ABSTRACT: BACKGROUND: Recent advances in whole-genome association studies (WGASs) for human cancer risk are beginning to provide the part lists of low-penetrance susceptibility genes. However, statistical analysis in these studies is complicated by the vast number of genetic variants examined and the weak effects observed, as a result of which constraints must be incorporated into the study design and analytical approach. In this scenario, biological attributes beyond the adjusted statistics generally receive little attention and, more importantly, the fundamental biological characteristics of low-penetrance susceptibility genes have yet to be determined. METHODS: We applied an integrative approach for identifying candidate low-penetrance breast cancer susceptibility genes, their characteristics and molecular networks through the analysis of diverse sources of biological evidence. RESULTS: First, examination of the distribution of Gene Ontology terms in ordered WGAS results identified ...
Genetic predisposition to obesity is no barrier to successful weight management The benefits of sticking to a healthy diet to prevent long term weight gain are greater in people at high genetic risk for obesity than in those with low genetic risk, finds a study in The BMJ today. The researchers say their findings
At what age should preventive examinations be started with a hereditary predisposition to cancer? The head of the oncology department of MONICA, doctor Alexander Allahverdyan, claims that information about close relatives who have developed cancer diseases can help to figure this out.. Ten years should be taken away from the age of death of a relative who had cancer. It is during this period that regular examinations should begin. If, for example, the father died of cancer at the age of 56, a person needs to start an examination every year after 46 years, he said ...
Results An association between SNP rs3802842 on chromosome 11q23.1 and rs16892766 on chromosome 8q23.3 and the risk of developing CRC and age of diagnosis was found in MLH1 mutation carriers. Female MLH1 mutation carriers harbouring the homozygous variant genotype for SNP rs3802842 have the highest risk of developing CRC. When the number of risk alleles for the two SNPs combined was analysed, a difference of 24 years was detected between individuals carrying three risk alleles and those carrying no risk alleles. ...
Recent advances in human genome studies have opened new avenues for the identification of susceptibility genes for many complex genetic disorders, especially in the field of rare cancers such as glioma. To date, eight glioma susceptibility loci have been identified by candidate gene-association studies: PRKDC G6721T, XRCC1 W399R, PARP1 A762V, MGMT F84L, ERCC1 A8092C, ERCC2 Q751K, EGF +61 A/G, and IL13 R110G. Five loci have been identified by genome-wide association studies: TERT rs2736100, CCDC26 rs4295627, CDKN2A-CDKN2B rs4977756, PHLDB1 rs498872, and RTEL1 rs6010620. Using the Ingenuity Pathway Analysis tool, we investigated whether these 13 susceptibility genes are biologically related. Our data provide not only networks for understanding the biological properties of gliomagenesis but also useful pathway maps for future understanding of disease.. ...
Several lines of evidence exist that lend support to T790M as a putative susceptibility allele. T790M has been detected somatically in tumors that have not been treated with gefitinib or erlotinib, which may suggest that this mutant may have arisen during drug-free cancer progression ( 15). Furthermore, the NCI-H1975 BAC cell line, which has never undergone tyrosine kinase inhibitor treatment, has both activating L858R and resistant T790M mutations, suggestive that T790M may be growth promoting ( 5). Bell et al. ( 8) also have observed that the T790M mutation seems to occur in cis with the activating mutations. Perhaps more persuasive is that the analogous resistance mutation in CML patients, BCR-ABL-T315I, displays increased in vitro kinase activity ( 16). Similarly, the analogous mutations in Src (T341M) and FGFR1 (V561M) also result in increased phosphorylation and activation ( 10). Why T790M in EGFR does not reportedly function in a similar manner is unclear.. Our results suggest that the ...
OUTLINE: Patients undergo transvaginal ultrasonography of the ovaries (scheduled for the early follicular phase, day 3-6 of the menstrual cycle) and CA 125 measurement annually. Blood samples are collected every 4 months for analysis of CA 125 levels and novel markers.. Peer Reviewed and Funded or Endorsed by Cancer Research UK. PROJECTED ACCRUAL: A total of 5,000 patients will be accrued for this study. ...
Host genetic variation in components of both specific and innate immune responses affects susceptibility to viral infections. Innate immunity provides the first line of defense, and the development of adaptive immunity is stimulated by innate responses. Pathogen recognition receptors (PRRs) initiate signaling pathways that result in the production of antiviral interferons and cytokines. Mutations or genetic variants (polymorphisms) have been recognized in several factors of innate immunity. Notably, human populations from distinct geographic areas have different frequencies of immune gene variants. The genetic susceptibility may vary from life-threatening manifestations of specific virus infections to a moderately increased frequency of nonsevere infections. Although the innate immunity is nonspecific by nature, the reactions are stereotypic for viral infections compared with bacterial infections. Even infections caused by specific viruses can be differentiated from each other based on the innate immune
Attempting to classify patients into high or low risk for disease onset or outcomes is one of the cornerstones of epidemiology. For some (but by no means all) diseases, clinically usable risk prediction can be performed using classical risk factors such as body mass index, lipid levels, smoking status, family history and, under certain circumstances, genetics (e.g. BRCA1/2 in breast cancer). The advent of genome-wide association studies (GWAS) has led to the discovery of common risk loci for the majority of common diseases. These discoveries raise the possibility of using these variants for risk prediction in a clinical setting. We discuss the different ways in which the predictive accuracy of these loci can be measured, and survey the predictive accuracy of GWAS variants for 18 common diseases. We show that predictive accuracy from genetic models varies greatly across diseases, but that the range is similar to that of non-genetic risk-prediction models. We discuss what factors drive differences in
In mammalian cells the accumulation of repair proteins to double-strand breaks is a phosphorylation- and ubiquitylation-regulated process. Some of the genes that encode the kinases and ubiquitin ligases in this pathway are cancer predisposition genes, most prominently the breast cancer predisposition gene BRCA1, which encodes a ubiquitin ligase. How BRCA1 ligase activity was regulated following DNA damage was poorly understood. In this review I summarize new data that show a third post-translational modification, by the small ubiquitin like modifier SUMO, is part of the same cascade, enabling and activating DNA damage-regulated processes, including the BRCA1 ligase activity. Cancer Res; 70(10); OF1-3. ©2010 AACR. ...
My laboratory focuses on understanding the genetic architecture of autism. We are working with genome-wide genetic data to identify additional susceptibility loci, the genetic mechanisms by which DNA variants influence autism risk, and the genetic and physiological pathways these risk loci implicate. We can use rich genetic datasets to ask questions about the role for copy number vs. SNP variation, rare vs. common variation, gene-sex interaction, gene-gene interaction, and gene-environment interaction.. We are also using human induced pluripotent stem cell (iPSC) models to study known mutations or copy number variants predisposing to autism. We will first identify the effects of genetic risk variants and then be able to ascertain whether the effects of genetic risk can be modified at the cellular level by environmental or pharmacological agents. These models will be used to test hypotheses emerging from our genetic datasets.. Our long term goals are to use genetic tools to improve understanding, ...
Using a range of experimental and bioinformatic procedures to overcome the barriers associated with the study of primary human GI T cells under homeostatic conditions, we report here unbiased expression microarray data for minimally manipulated T cells from the small intestine of tightly matched, healthy controls. We demonstrate that this approach allows the identification of genes upregulated in specific gut T cell subsets and that these genes cluster non-randomly around risk loci for inflammatory pathologies, thus providing an alternative novel approach to candidate gene identification at GWAS risk loci.. The only previously reported human intestinal T cell transcriptional studies used prolonged in vitro culture and expansion of clones derived from atypical IEL T cells associated with refractory CeD.46 ,47 Here, we used material from just eight ileal biopsies, allowing study of physiologically relevant tissue from healthy control individuals rather than dependence upon diseased explants. Low ...
Background: Epidemiologic studies have reported a positive association between type 2 diabetes (T2D) and breast cancer risk, independent of body weight. Methods: We investigated 40 genetic variants known to be associated with T2D in relation to breast cancer risk among 2651 breast cancer cases and 2520 controls of African or European ancestry that were pooled from seven studies. Results: We found that two T2D risk alleles in Caucasian women (rs5945326-G, rs12518099-C) and one in women of African ancestry (rs7578597-T) were positively associated with breast cancer risk at a nominal significance level of 0.05, whereas two T2D risk alleles were inversely associated with breast cancer risk in Caucasian women (rs1111875-C, rs10923931-T). The composite T2D susceptibility score (the number of risk allele) was not significantly associated with breast cancer risk. Conclusion: The association between established T2D genetic susceptibility variants and breast cancer risk in women of African or European ...
Causes of pancreatic cancer include various known and unknown factors. The incidence of pancreatic cancer increases with age. African Americans tend to be more likely to acquire cancer of the pancreas. Cigarette smoking, recent onset diabetes, chronic pancreatitis, obesity, heavy drinking, and family genetics may be risk factors.
I refer all women diagnosed with a HGSC of the ovary, fallopian tube or the peritoneum, irrespective of age, to the Hereditary Cancer Program for genetic counseling and for BRCA mutation testing.
OBJECTIVE: The UCHL-1 gene is widely cited as a susceptibility factor for sporadic Parkinsons disease (PD). The strongest evidence comes from a meta-analysis of small studies that reported the S18Y polymorphism as protective against PD, after pooling studies of white and Asian subjects. Here, we present data that challenge this association. METHODS: In a new large case-control study in white individuals (3,023 subjects), the S18Y variant was not protective against PD under any genetic model of inheritance. Similarly, a more powerful haplotype-tagging approach did not detect other associated variants. RESULTS: Finally, in an updated S18Y-PD meta-analysis (6,594 subjects), no significant association was observed under additive, recessive, or dominant models (odds ratio = 1.00 [95% confidence interval: 0.74-1.33]; odds ratio = 1.01 [95% confidence interval: 0.76-1.35]; and odds ratio = 0.96 [95% confidence interval: 0.86-1.08], respectively), and a cumulative meta-analysis showed a trend toward a ...
The Liver Diseases Genetics and Genomics program supports research to identify genes that influence normal development, function, and diseases of the liver
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We have found a substantial number of reports of studies that have investigated candidate genes for low-penetrance breast cancer susceptibility alleles. Despite this research effort, there is no clear evidence that any of these polymorphisms are strongly associated with breast cancer risk. Of the individual studies, few of the reported associations have been statistically significant, and no significant association has been reported by more than one study. In some cases, this might be due to a lack of statistical power in individual studies. Even among the significant associations, the magnitude of the effect found is rarely greater than 2.5-fold increased risk. If the rare allele frequency is 0.2, 315 cases and 315 controls would be required to detect this magnitude of risk for a rare allele homozygote with 90% power at the 5% significance level: 10 of the 46 studies reported were larger than this.. We have attempted to reduce this lack of power by combining results in meta-analyses, but even ...
Our data demonstrate that polymorphisms in the AKT2 gene are significantly associated with PCOS. The minor alleles of rs3730051 and rs8100018 were associated with PCOS, and the corresponding haplotype was also associated with PCOS. We used independent, additive, and combined logistic regression models to demonstrate that the association between AKT2 haplotype T-G-C-T and PCOS was independent of the GSK3B risk haplotype, but PCOS risk was increased when both were present. These data offer two potential susceptibility loci from the insulin signaling pathway that may confer increased PCOS risk and suggest that the presence of multiple lesions in a single pathway confers increased risk.. The significant association of rs3735001 and rs8100018 with PCOS extends to a haplotype that includes the minor alleles of these two AKT2 SNPs. Carriers of both minor alleles, in a haplotype, had the same OR as carriers of either risk allele alone, as a SNP. This finding suggests that these alleles are markers ...
Although the recent evidence for individual differences in plasticity is quite compelling, the authors are very tentative and cautious in their papers, which I suppose is necessary when youre proposing something new. You dont want to scare anyone off. So they are keen to point out that the evidence is not quite solid as yet, and there is more work to be done.. This line of work is only beginning, and there are many unknowns. Much the same as in priming research, the evidence of the effect is running a little ahead of the understanding of the mechanisms involved, and researchers are unclear on whether differential susceptibility stems mostly from nature or nurture, or on the breadth of the phenomena that it applies to. Having said that, the idea that that the people most susceptible to negative symptoms and experiences might be the people most susceptible to positive symptoms and experiences, is quite a cheerful thought.. References:. (1) Belsky, J., & Pluess, M. (2009). Beyond diathesis ...
Online supplementary table 1 summarises terms used to describe sequence variants, and their association with or relevance to disease, and to patient clinical management. The information was derived from a combination of knowledge from the literature, usage in verbal and written project reporting across ENIGMA, in clinical reports generated or viewed by ENIGMA members and documentation/terms described by the Human Variome Project (HVP; http://www.humanvariomeproject.org), ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) and International Society for Gastrointestinal Hereditary Tumours (InSiGHT; https://www.insight-group.org/). The content was presented to ENIGMA members at several consecutive consortium meetings, and also circulated in document form, to invite feedback and additions. While not claiming to be an exhaustive list of terms and their meanings, it is clear that a single term/phrase can be used to describe different aspects relating to a variant (different intent), and that multiple ...
Genetic Predisposition News. Find breaking news, commentary, and archival information about Genetic Predisposition From The tribunedigital-sunsentinel
The current explosion of GWAS, driven in part by falling genotyping costs, has revealed some causal variants and others that have failed to replicate. In some cases, the observed linkage of associated SNPs to coding genes suggests that the associated variant might alter risk by regulating gene expression. cis-linked noncoding sequences often contain consensus binding sites for transcription factors [ENCODE Project Consortium, 2007], and recently, a causal variant for colorectal cancer was shown to be a cis-eQTL for SMAD7 expression [Pittman et al., 2009], suggesting that other associated variants might alter disease predisposition by affecting expression levels of key signaling molecules. Although not all causal variants are likely to regulate expression levels of protein-coding genes, such evidence for an associated SNP can be useful information. Assuming that the associated variant somehow regulates the expression levels of a coding gene, existing prior biological
TY - JOUR. T1 - Investigating the viability of genetic screening/testing for RA susceptibility using combinations of five confirmed risk loci. AU - McClure, Annie. AU - Lunt, Mark. AU - Eyre, Steve. AU - Ke, Xiayi. AU - Thomson, Wendy. AU - Hinks, Anne. AU - Bowes, John. AU - Gibbons, Laura. AU - Plant, Darren. AU - Wilson, Anthony G. AU - Marinou, Ioanna. AU - Morgan, Ann W. AU - Emery, Paul. AU - Steer, Sophia. AU - Hocking, Lynne. AU - Reid, David M. AU - Wordsworth, Paul. AU - Harrison, Pille. AU - Worthington, Jane. AU - Barton, Anne. AU - BIRAC consortium. PY - 2009. Y1 - 2009. N2 - OBJECTIVE: Five loci-the shared epitope (SE) of HLA--DRB1, the PTPN22 gene, a locus on 6q23, the STAT4 gene and a locus mapping to the TRAF1/C5 genetic region--have now been unequivocally confirmed as conferring susceptibility to RA. The largest single effect is conferred by SE. We hypothesized that combinations of susceptibility alleles may increase risk over and above that of any individual locus alone. ...
Cancer incidence varies markedly by ethnicity and geographic location. Ethnic variation in cancer occurrence has traditionally been ascribed to differences in social, cultural, economic, and physical environments. However, this interpretation of the epidemiologic evidence may need to be revised as a result of new biological evidence and theories of carcinogenesis. Carcinogenesis is now recognized
New Delhi, Nov 30 (IANS) The good news: Healthy behaviour appears to slash the risk of coronary disease in people at high genetic risk for events. The bad...
The discovery of inherited gene mutations that increase the risk of certain cancers could greatly expand the use of predictive genetic testing in healthy individuals. In families with hereditary forms of cancer, the use of genetic tests to determine whether family members have inherited suseptibility mutations (ISMs} may improve out come. 1
Genetic testing and counseling is available for patients at risk for breast, ovarian and colon cancer. BRCA1 and BRCA2 testing is available.
A woman who discovers she is at risk for developing breast cancer may wonder if someone else in her family is also at risk. That very thought can help save a life. An estimated 10 percent of women diagnosed with breast cancer have a hereditary predisposition to the disease and are at substantial risk for…
(HealthDay)-For patients with type 2 diabetes (T2D), having a genetic predisposition towards the disease is associated with an increased risk of cardiovascular disease (CVD), according to a study published online Oct. 15 ...
Kevin Light MD offers EstroGenomic Profile genetic testing for breast cancer, osteoporosis, and heart disease predispositions for clients at his Texas medical center
One of the reasons I asked for the kit is because their results, in addition to ancestry, gave information relative to genetic disease predisposition. Id already asked for the kit for xmas when it was announced that the FDA had made them stop giving out that info pending its approval. They have promised that IF they get that approval theyll provide that portion of the data to anyone who tested after the stop date, sometime last November ...
We provide Genetic and Hormone Testing for Disease Predisposition which also known as DNA genetic screening test, donor screening test and more.
E-cigarette vapour may increase susceptibility to pneumonia-causing bacteria, a new study published in the European Respiratory Journal has found.
TY - JOUR. T1 - microRNA多态与肺癌遗传易感性关联Meta分析. AU - Sun, Song Zan. AU - Huang, Hai Rong. AU - Long, Wen Fang. AU - Liu, Yun Ru. AU - Yang, Jian Jun. AU - Liu, Yu Mei. AU - Yan, Zhen. AU - Yu, De E.. AU - Zhou, Jing. AU - Xiao, Sha. PY - 2019/8/14. Y1 - 2019/8/14. N2 - OBJECTIVE: Reports show that microRNAs polymorphism is related to the genetic susceptibility to lung cancer,while the conclusions are inconsistent.In this study,meta analysis was performed on related literatures published from January 2007 to April 2017 to evaluate the association between polymorphism at miRNA-196a2 rs11614913 and miRNA-146a rs2910164 and genetic susceptibility to lung cancer.METHODS: The databases of PubMed,CNKI,cqVIP,CBM or wanfang were retrieved to search for publications about case-control study,which studied on the relationship between rs11614913 or rs2910164 polymorphisms of miRNA and genetic susceptibility to lung cancer.According to the inclusion criteria and exclusion ...
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Even in older adults with a high genetic risk for developing dementia, a positive attitude toward aging can reduce the risk of developing it by nearly 50 ...
Proceeding/Conference:Croucher Foundation ASI Conference on Statistical Genetics: From Haplotype Maps to Disease Susceptibility Genes ...
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We have also not recognized as well as we ought to the difference between what must be the distinct processes involved in the immature central nervous system developing a basic capacity (such as mobility or communication), and those involved in improving or repairing ones skills in those aspects of function once it has emerged.5 A powerful example of how the brain is wired to accommodate and develop inputs from the outside world is the recognition of the sensitive periods for vision to develop normally.6 It appears that development requires, in addition to neurological integration, genetic predisposition and opportunities to work at the emergence of the function. Rehabilitation involves working with people who have acquired a functional problem, in order to help them recover their established but impaired capacities. It almost certainly requires and uses very different brain mechanisms than those that are involved in the development of these capacities in the first place. These ...
Many scientists now suspect that a vast majority of Parkinsons cases are caused by interplay between an inherited genetic susceptibility and environm
Genome-wide association studies (GWAS) of chronic lymphocytic leukemia (CLL) have shown that common genetic variation contributes to the heritable risk of CLL. To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1,739 individuals with CLL (cases) and 5,199 controls with validation in an additional 1,144 cases and 3,151 controls. A combined analysis identified new susceptibility loci mapping to 3q26.2 (rs10936599, P =...
Uncovering common genetic risk factors for Parkinsons disease Introduction. Mutations in the so called PARK genes lead to rare familial forms of Parkinsons disease (PD). However the extent to which common genetic variability around these genes alters risk for common PD remains unclear. The Australian Parkinsons Project is analysing genetic variability around the PARK loci in a large PD case-control sample recruited from three Australian states. The emphasis is on gene-gene and gene-environment interactions between commonly occurring variables. Aim. To report on a pilot PD association analysis of 87 polymorphisms around13 PARK genes in an initial case-control sample recruited during 2006. Methods. PD cases (n=326) and unaffected control subjects (n=298) of white European ancestry were recruited from three specialist clinics in Brisbane and the Australian Electoral Roll. Common genetic variables (86 SNPs genotyped on the TaqMan platform and 1 STR variable genotyped using standard methods) were ...
The survival of breast cancer patients is largely influenced by tumor characteristics, such as TNM stage, tumor grade and hormone receptor status. However, there is growing evidence that inherited genetic variation might affect the disease prognosis and response to treatment. Several lines of evidence suggest that alleles influencing breast cancer risk might also be associated with breast cancer survival. We examined the associations between 35 breast cancer susceptibility loci and the disease over-all survival (OS) in 10,255 breast cancer patients from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3) of which 1,379 died, including 754 of breast cancer. We also conducted a meta-analysis of almost 35,000 patients and 5,000 deaths, combining results from BPC3 and the Breast Cancer Association Consortium (BCAC) and performed in silico analyses of SNPs with significant associations. In BPC3, the C allele of LSP1-rs3817198 was significantly associated with improved OS ...
Introduction Systemic Lupus Erythematosus (SLE) shows a spectrum of clinical manifestations that complicate its diagnosis, treatment and research. This variability is likely related with environmental exposures and genetic factors among which known SLE susceptibility loci are prime candidates. The first published analyses seem to indicate that this is the case for some of them, but results are still inconclusive and we aimed to further explore this question. Methods European SLE patients, 1444, recruited at 17 centres from 10 countries were analyzed. Genotypes for 26 SLE associated SNPs were compared between patients with and without each of 11 clinical features: ten of the American College of Rheumatology (ACR) classification criteria (except ANAs) and age of disease onset. These analyses were adjusted for centre of recruitment, top ancestry informative markers, gender and time of follow-up. Overlap of samples with previous studies was excluded for assessing replication. Results There were three
A recent genome-wide association study (GWAS) conducted by the International Multiple Sclerosis Genetics Consortium (IMSGC) identified a number of putative MS susceptibility genes. Here we have performed a replication study in 1134 Australian MS cases and 1265 controls for 17 risk-associated single nucleotide polymorphisms (SNPs) reported by the IMSGC. Of 16 SNPs that passed quality control filters, four, each corresponding to a different non-human leukocyte antigen (HLA) gene, were associated with disease susceptibility: KIAA0350 (rs6498169) P=0.001, IL2RA (rs2104286) P=0.033, RPL5 (rs6604026) P=0.041 and CD58 (rs12044852) P=0.042. There was no association (P=0.58) between rs6897932 in the IL7R gene and the risk of MS. No interactions were detected between the replicated IMSGC SNPs and HLA-DRB1*15, gender, disease course, disease progression or age-at-onset. We used a novel Bayesian approach to estimate the extent to which our data increased or decreased evidence for association with the six ...
The recognition that prostate cancer has a strong familial component has led to the search for prostate cancer susceptibility genes. Localization of these genes through linkage studies, however, has become a particularly formidable task. Prostate cancer is the most common cancer affecting American men; this high background rate of sporadic cancer obscures the ability to identify families with true genetic predisposition. Prostate cancer is also a late-onset disease. Thus, it is often difficult to identify and collect samples from individuals in several generations. Despite these problems, linkage studies have identified three autosomal putative prostate cancer susceptibility loci, namely, HPC1, PCAP, and CAPB. The likelihood of locus heterogeneity further complicates prostate cancer linkage studies and necessitates large sample sizes.. To localize HPCX, Xu et al. (16) studied 360 prostate cancer families with an average of 4.3 affected men/family obtained from research studies from two ...
TY - JOUR. T1 - Multivariate logistic regression for familial aggregation in age at disease onset. AU - Matthews, Abigail G.. AU - Finkelstein, Dianne M.. AU - Betensky, Rebecca. PY - 2007/6/1. Y1 - 2007/6/1. N2 - Familial aggregation studies seek to identify diseases that cluster in families. These studies are often carried out as a first step in the search for hereditary factors affecting the risk of disease. It is necessary to account for age at disease onset to avoid potential misclassification of family members who are disease-free at the time of study participation or who die before developing disease. This is especially true for late-onset diseases, such as prostate cancer or Alzheimers disease. We propose a discrete time model that accounts for the age at disease onset and allows the familial association to vary with age and to be modified by covariates, such as pedigree relationship. The parameters of the model have interpretations as conditional log-odds and log-odds ratios, which can ...
TY - CHAP. T1 - Complex Genetics of Alcoholism. AU - Edenberg, Howard. AU - Foroud, Tatiana. PY - 2014/2. Y1 - 2014/2. N2 - Genetic factors play a significant role in the risk for alcoholism, although environmental influences are also important. Alcohol use disorders are defined by symptomology and are heterogeneous, making the identification of specific genes that affect risk difficult. Several strategies have been applied to identify genes that contribute to alcoholism and alcohol-related phenotypes, including candidate gene studies, family-based linkage studies, and genome-wide association studies. Variants in the alcohol metabolizing genes ALDH2 and ADH1B confer some protection against alcohol dependence. Common variants in other genes, including ADH4, ADH1C, GABRA2, GABRG1, CHRNA5, CHRNA3, CHRM2, PECR, AUTS2, PDYN, OPRK1, and KCNJ6, have been associated with alcohol dependence or other alcohol-related phenotypes. Many of these results await further replication. Meta-analysis of large ...
Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p ...
Berndt, Sonja I.; Camp, Nicola J.; Skibola, Christine F.; Vijai, Joseph; Wang, Zhaoming; Gu, Jian; Nieters, Alexandra; Kelly, Rachel S.; Smedby, Karin E.; Monnereau, Alain; Cozen, Wendy; Cox, Angela; Wang, Sophia S.; Lan, Qing; Teras, Lauren R.; Machado, Moara; Yeager, Meredith; Brooks-Wilson, Angela R.; Hartge, Patricia; Purdue, Mark P.; Birmann, Brenda M.; Vajdic, Claire M.; Cocco, Pierluigi; Zhang, Yawei; Giles, Graham G.; Zeleniuch-Jacquotte, Anne; Lawrence, Charles; Montalvan, Rebecca; Burdett, Laurie; Hutchinson, Amy; Ye, Yuanqing; Call, Timothy G.; Shanafelt, Tait D.; Novak, Anne J.; Kay, Neil E.; Liebow, Mark; Cunningham, Julie M.; Allmer, Cristine; Hjalgrim, Henrik; Adami, Hans-Olov; Melbye, Mads; Glimelius, Bengt; Chang, Ellen T.; Glenn, Martha; Curtin, Karen; Cannon-Albright, Lisa A.; Diver, W Ryan; Link, Brian K.; Weiner, George J.; Conde, Lucia; Bracci, Paige M.; Riby, Jacques; Arnett, Donna K.; Zhi, Degui; Leach, Justin M.; Holly, Elizabeth A.; Jackson, Rebecca D.; Tinker, Lesley ...
Relief is when you and the right researcher find each other Finding the right clinical trial for Multiple sclerosis susceptibility can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
Using the candidate gene approach (discussed earlier in this chapter), many genes have been associated with asthma or asthma-related traits such as allergy and high concentrations of immunoglobulin E (IgE) in serum (table 2). Not all of these suspected asthma susceptibility genes have been replicated in multiple independent studies. One group of (allergic) asthma susceptibility genes is involved in innate immunity responses, encompassing pattern-recognition receptors, immunoregulatory cytokines and molecules involved in antigen presentation. A second group of asthma susceptibility genes are key players in T-helper type 2 (Th2)-cell differentiation and Th2- cell effector function. Th2 cells are T-lymphocytes that drive the production of allergic immunoglobulins (IgE) and the chronic airway inflammation in (allergic) asthma.. Linkage studies in families have discovered several novel asthma susceptibility genes that are expressed in epithelial cells and/or smooth muscle cells in the airways (table ...
Chromosome 5p15.33 has been identified as a lung cancer susceptibility locus, however the underlying causal mechanisms were not fully elucidated. Previous fine-mapping studies of this locus have relied on imputation or investigated a small number of known, common variants. This study represents a significant advance over previous research by investigating a large number of novel, rare variants, as well as their underlying mechanisms through telomere length. Variants for this fine-mapping study were identified through a targeted deep sequencing (average depth of coverage greater than 4000x) of 576 individuals. Subsequently, 4652 SNPs, including 1108 novel SNPs, were genotyped in 5164 cases and 5716 controls of European ancestry. After adjusting for known risk loci, rs2736100 and rs401681, we identified a new, independent lung cancer susceptibility variant in LPCAT1: rs139852726 (OR = 0.46, P = 4.73x10(-9)), and three new adenocarcinoma risk variants in TERT: rs61748181 (OR = 0.53, P = ...
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.
NIH Funding Opportunities and Notices in the NIH Guide for Grants and Contracts: Ancillary Studies to the NIDDK Inflammatory Bowel Disease Genetics Consortium (R01- Clinical Trial Optional) RFA-DK-17-017. NIDDK
OLIVEIRA, Martha Maria de et al. Single Nucleotide Polymorphisms (SNPs) of the TNF-a (-238/-308) gene among TB and nom TB patients: susceptibility markers of TB occurrence?. J. bras. pneumol. [online]. 2004, vol.30, n.4, pp.371-377. ISSN 1806-3713. https://doi.org/10.1590/S1806-37132004000400012.. BACKGROUND: Host genetic factors may play a role in the susceptibility to active tuberculosis (TB), and several polymorphisms in different cytokine coding genes have been described and associated with diseases to date. OBJECTIVES: To investigate whether polymorphisms within the promoter region of the TNF-a (-238/-308) coding genes are associated to the occurrence of active TB. METHODS: SNPs within the TNF-a gene were analyzed by PCR-RFLP among two groups of individuals: patients with TB (n = 234, and patients non TB (n = 113). RESULTS: In this study, the presence of the -238A allele was associated with susceptibility to TB disease occurrence and severity (p = 0,00002; OR = 0,15; IC = 0,06-0,36. On the ...
This course focuses on the fundamental research methods and applications in the dynamic field of genetic epidemiology. To help students obtain a basic understanding of the field, the course includes topics such as assessing genetic influences on disease; advances in genomics technology; family based study designs for linkage, exome sequencing and case-parent trios; candidate gene and genome-wide association studies of both common and rare genetic variants; gene-environment interactions, epistasis and non-Mendelian genetics; software and web-based data resources; ethical issues in genetic epidemiology; and applications of genetic epidemiology to clinical practice and public health. Students will be exposed to a range of research approaches in genetic epidemiology, to examples of these approaches from the literature and from ongoing studies, and will have an opportunity to apply these methods by writing a grant application or human genome epidemiology review in their area of research ...
Finally, a risk score consisting of 47 T2D susceptibility gene variants showed a strong association with fasting glucose, T2D and HOMA-B. Interaction analysis suggested that its effect on fasting glucose levels might be modulated by BMI. The score was associated with greater increase in fasting glucose in obese individuals compared to overweight or normal individuals. The same effect was not observed for T2D risk, possibly because of reduced statistical power. When the variants were partitioned by their proposed physiologic mechanism in the disease, a strong association was found with decreased HOMA-B for one set of SNPs and with increased HOMA-IR for another. The genetic risk score associated with IR, but not the other genetic risk scores, showed a strong association with chronic kidney disease (CKD). Mendelian randomization analysis suggested a causal effect of IR on impaired glomerular filtration rate. The association was statistically significant after the exclusion of diabetic individuals ...
Alzheimers Disease Susceptibility Genes APOE and TOMM40, and Hippocampal Volumes in the Lothian Birth Cohort 1936. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
The purpose of the Alzheimers Disease Genetics Study is to help identify the genes that may be responsible for causing Alzheimers Disease (AD) by collecting genetic material from families with multiple members diagnosed with AD. Qualifying families will have two living blood-related individuals who have been diagnosed with or are showing symptoms of AD or dementia. Local study sites are located all over the United States, and arrangements may be made for eligible families who do not live near a participating site. The biological samples and data from these families will be made available to qualified researchers, who must sign a Materials Transfer Agreement (MTA) in order to protect the privacy rights of study participants before receiving DNA and data ...
BACKGROUND: Several genes encoding for DNA repair molecules implicated in maintaining genomic integrity have been proposed as cancer-susceptibility genes. Although efforts have been made to create synopses for specific fields that summarize the data from genetic association studies, such an overview is not available for genes involved in DNA repair. METHODS: We have created a regularly updated database of studies addressing associations between DNA repair gene variants (excluding highly penetrant mutations) and different types of cancer. Using 1087 datasets and publicly available data from genome-wide association platforms, meta-analyses using dominant and recessive models were performed on 241 associations between individual variants and specific cancer types that had been tested in two or more independent studies. The epidemiological strength of each association was graded with Venice criteria that assess amount of evidence, replication, and protection from bias. All statistical tests were ...
Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. We aimed to assess all two-way interactions in breast cancer susceptibility between 70 917 single nucleotide polymorphisms (SNPs) selected primarily based on prior evidence of a marginal effect. Thirty-eight international studies contributed data for 46 450 breast cancer cases and 42 461 controls of European origin as part of a multi-consortium project (COGS). First, SNPs were preselected based on evidence (P , 0.01) of a per-allele main effect, and all two-way combinations of those were evaluated by a per-allele (1 d.f.) test for interaction using logistic regression. Second, all 2.5 billion possible two-SNP combinations were evaluated using Boolean operation-based screening and testing, and SNP pairs with the strongest evidence of interaction (P , 10(-4)) were selected for ...
Three common mutations in the CARD15 (NOD2) gene are known to be associated with susceptibility to Crohn disease (CD), and genetic data suggest a gene dosage model with an increased risk of 2-4-fold in heterozygotes and 20-40-fold in homozygotes. However, the discovery of numerous rare variants of CARD15 indicates that some heterozygotes for the common mutations have a rare mutation on the other CARD15 allele, which would support a recessive model for CD. We addressed this issue by screening CARD15 for mutations in 100 CD patients who were heterozygous for one of the three common mutations. We also developed a strategy for evaluating potential disease susceptibility alleles (DSAs) that involves assessing the degree of evolutionary conservation of involved residues, predicted effects on protein structure and function, and genotyping in a large sample of cases and controls. The evolutionary analysis was aided by sequencing the entire coding region of CARD15 in three primates (chimp, gibbon, and ...
Other research groups also have found the G2385R mutation is at a higher frequency in Asian patients with Parkinsons disease, than in matched control subjects. These types of case and control genetic studies provide a powerful tool for researchers to find disease genes and risk factors in homogeneous or isolated populations where there has been little immigration. Interestingly, the present papers authors found evidence to suggest G2385R carriers share a common ancestor. They performed a genetic analysis looking at the inheritance pattern of a specific DNA sequence along chromosome 12 that includes the LRRK2 gene. Examining known genetic markers, which are short stretches of repeated DNA subject to variation in the number of times they repeat, their analysis showed a unique pattern of these DNA sequence markers is almost always passed from generation to generation along with the G2385R variant. Researchers used genetic theory to estimate the level of variation at these genetic markers between ...
Rare variants as low-penetrance alleles Rare variants will not be detectable by population association studies based on the use of linked polymorphic markers, even with very large case/control cohort studies. This is because of low allelic frequency and individually small contributions to the overall inherited susceptibility of a disease. These variants are less common…
As a first step into whole-genome sequencing, a division of Johnson & Johnson is sequencing 450 rheumatoid arthritis patients from a clinical trial of its approved drug Simponi (golimumab) with the goal of identifying disease predisposition genes and markers that correlate wi
Strong evidence that rare variants of relatively high penetrance are involved in the etiology of schizophrenia is currently restricted to the data from studies investigating copy number variants and major structural re-arrangements in that disorder. Global tests of the hypothesis of the involvement of fairly high penetrance rare single nucleotide changes or small insertion deletion events await the genesis of data from large-scale sequencing studies, meanwhile, a pragmatic approach to trying to detect such alleles is to target sequencing efforts on genes for which there is compelling evidence from other sources for their involvement in this disorder. We have undertaken a study, which aimed to identify whether rare (frequency ∼0.001%) coding variants in the schizophrenia susceptibility gene ZNF804A are involved in this disorder. We screened the coding regions of the gene in 517 schizophrenic cases and 501 controls, and genotyped rare non-synonymous variants in a case-control sample powered to ...
Menu location: Analysis_Sample Size_Independent Case-Control.. This function gives the minimum number of case subjects required to detect a real odds ratio or case exposure rate with power POWER and two sided type I error probability ALPHA. This sample size is also given as a continuity-corrected value intended for use with corrected chi-square and Fishers exact tests (Schlesselman, 1982; Casagrande et al. 1978; Dupont, 1990).. Information required ...
1.7 for common variations in the principal analysis. Conclusions Reasonably large additive relationships between common SNPs in genes highly relevant to cardiovascular disease usually do not may actually play a significant role in hereditary predisposition to CAD. The part of genetic relationships amongst much less common SNPs and with moderate and little magnitude effects stay to become investigated. Introduction Recent years have observed a major achievement in determining buy 6485-79-6 common alleles connected with coronary artery disease (CAD) risk through genome wide association research (GWAS) [1,2]. Oddly enough, the identified variations to date clarify no more than 10% from the heritable element of inter-individual variant in CAD risk [1]. Amongst feasible systems that may take into account a number of the lacking heritability, gene-gene relationships are attractive [3] intuitively. The biological mechanisms mediating genetic effects involve several genes usually. Strategies separately ...
The Major Histocompatibility Complex (MHC) is a gene-dense region located on the short arm of chromosome 6 (6p21.31). This region contains the highly polymorphic HLA genes as well as many other genes with immunological and non-immunological function. The susceptibility genes of many human disorders have been mapped to genes within the MHC. However, the genes themselves and indeed the locations of the genes, for many of the disorders, remain a mystery. This is a result of the high degree of linkage disequilibrium (LD) that exists between loci within the MHC. The high LD is explained by the genomic structure of the MHC. The MHC contains several blocks of DNA within which recombination is extremely rare, whereas the boundaries of the blocks are defined as "hotspots" of recombination. Most disease association studies have used the highly polymorphic HLA class I and class II genes which are separated by an, as yet, undefined number of blocks and several hundred kilobases of DNA. The MHC gamma block ...
Genome-wide meta-analyses of breast, ovarian, and prostate cancer association studies identify multiple new susceptibility loci shared by at least two cancer types
Current extensive genetic research into common complex diseases, especially with the completion of genome-wide association studies, is bringing to light many novel genetic risk loci. These new discoveries, along with previously known genetic risk variants, offer an important opportunity for researchers to improve health care. We describe a relatively fast method, using a Mann-Whitney U-statistic and based on the concept of the optimal receiver operating characteristic (ROC) curve, to build a test with many ideal properties (e.g., having the highest overall discriminative ability), to estimate its classification accuracy, and to determine the sample size required for the verification of this accuracy. The proposed predictive test is asymptotically more powerful than tests built on other existing methods, can handle a large number of genetic and environmental risk predictors, and allows for loci that interact. The method uses an efficient procedure to handle missing data. Simulations indicate that ...
PISA is the Prospective Imaging Study of Ageing: Genes, Brain and Behaviour.. QIMR Berghofer is leading an internationally collaborative, long-term study to identify healthy middle-aged Australians at high genetic risk of dementia.. PISA studies the interplay between genetic, epigenetic and environmental factors for dementia, and also aims to identify risk factors that could be modified through intervention - such as lifestyle choices.. The study is a unique international research resource, providing new links to studies into the causes of dementia, assisting clinical trials in dementia prevention, and bringing about new possibilities for translational research into this important public health issue.. PISA uses cutting edge imaging technologies to examine the neurobiological features associated with high risk for dementia, and identify the changes that lead to a patients transition from high risk to cognitive impairment.. The combined use of genetic risk scores and neurobiological markers ...
Identification of a new prostate cancer susceptibility locus on chromosome 8q24 (P = 1.3 x 10(-10), heterozygote OR = 1.17, 95% CI 1.10-1.24; homozygote OR = 1.33, 95% CI 1.21-1.45). See the entry for rs4242382, which states, "A joint-odds analysis indicates that rs4242382(A;A) individuals have increased prostate cancer odds of 3.15x or 1.77x if they are also carrying 2 or 1 rs620861(C) alleles, respectively." ...
Health,Genetic factors play an important role in the continuing addiction to ...Results of two studies show that certain genetic variations can infl...Scientists suggest that these smoking-related genes may facilitate c... Individuals with a specific variation in the gene show a two-fold r... CHRNA5 is from a class of receptors that plays a role in dopamine p...,Genes,for,Nicotine,Dependence,Identified,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
A new study into the genetics underlying restless legs syndrome has identified 13 previously-unknown genetic risk variants, while helping inform potential new treatment options for the condition.
A high percentage of African American women with breast cancer who were evaluated at a university cancer-risk clinic were found to carry inherited genetic mutations that increase their risk for breast cancer.
A healthy diet can help people at high genetic risk for obesity control their weight even more than those at low genetic risk, according to a study in BMJ.
Systemic Lupus Erythematous (SLE) is a systemic autoimmune disease with a strong genetic component. Over 50 risk genes have been associated with SLE, many with no immediate biological connection to disease. We previously identified one such gene, PXK, as being a candidate gene associated with SLE in women of European descent. These findings have since been replicated. PXK has additionally been identified as a risk gene for RA as well, suggesting that PXK may have a broad role in the pathobiology of autoimmune disease. In this work we undertake the fine mapping of the PXK genetic locus in an effort to refine the association signal. We identify one independent effect in the region occurring strictly in individuals of European ancestry. In an attempt to capture more of the potential variation in the region, we performed imputation, which confirmed our findings of a single associated region found only in Europeans. In tandem with refinement of the genetic signal, we also attempt to identify the SLE ...
The best advantage that this brings though is that it allows you to develop certain lifestyle choices to drastically reduce the chances of them getting ill, and this is something that could not be done before. An example would be not smoking when they get older if they have a genetic predisposition to cancer.. By finding out this information it gives you the upper hand and allows you to make preparations for if the worst were to happen. It can reduce a lot of stress and will ensure early detection can be made if there is a predisposition, so it is certainly something worth considering if you have history of it in the family.. The testing is simple and straightforward, and with reputable home DNA testing companies, like easyDNA, you will get completely accurate results too.. This testing gives you an advantage in the fight against cancer, as having knowledge is key and early detection can give you a great chance to beat it and lead a healthy lifestyle.. ...
Lung Cancer Susceptibility 4 information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Chronic lymphocytic leukemia (CLL) is the most common hematological malignancy in Western countries. Using DNA analysis techniques developed in recent years, researchers have so far been able to identify 24 different genetic variants that contribute to an increased risk to develop CLL. In a recent study published in Nature Genetics, the scientists have expanded the DNA analyses and thereby been able to discover four novel DNA variants that can be linked to genetic susceptibility in CLL. The results were verified in a Swedish sample collection of CLL patients. Richard Rosenquist and Larry Mansouri have been involved in the collection of the Swedish material and contributed to the data analysis.. - Our results show that there are several low-risk DNA variants that contribute to the development of CLL. It is likely that there are a large number of such common variants that are still unknown. In addition, it would be interesting to study how these variations are distributed in different disease ...
However, ASCO also acknowledges that emerging technologies, like genomic profiling for low penetrance genetic variants (markers of very low disease risk), may be appropriate for some patients who do not have a personal or family history that suggests a higher risk of cancer. People may undergo genetic testing using direct-to-consumer (DTC) tests, but they may ask their health care providers for help in interpreting the test results and obtaining follow-up care. For any genetic test, ASCO urges doctors and other health care providers to recommend follow-up care that is based on established cancer risk factors such as family history, behavioral factors, environmental exposures, and scientifically-validated tests for cancer risks.. ASCO further states that although the list of genes for cancer susceptibility syndromes continues to grow, the ever-changing nature of the field highlights the importance of getting genetic counseling both before and after doing genetic testing. Companies that offer DTC ...
Are diabetes, heart disease and cancer risk determined by our genes? The other night I went to a little presentation by Navigenics, where the topic of the evening centered around predictive genomics testing, genetic predisposition and the idea of personalized medicine. To my mind, the subject is not so easy to discuss because how genes […]. ...
Germline mutations in the CDH1 (E-cadherin gene) gene have been reported in families with a hereditary predisposition to breast cancer and gastric cancer. Sequencing and deletion/duplication analyses of the CDH1 gene will identify individuals at risk for CHD1-related cancers ...
Natural selection weeds out highly deleterious mutations from a population. Thus, the genetic changes with the biggest impact on disease risk tend to occur infrequently. GWAS chips only capture SNPs found in at least a few percent of the population and thus miss rare variants-precisely those that may offer the most exciting biological insights. Some scientists even believe that these neglected rare variants explain much of the "missing heritability" of complex diseases.. "Its not clear how much of the inter-individual variability in risk for disease is driven by rare variation," Cox says. "But when we can find that variation-really rare stuff with big effects-it often gives us a disproportionate understanding of the biology.". To find rare variants, scientists must compare entire gene sequences between cases and controls. In the past, this has meant looking at only a handful of genes at once. But with the advent of next-generation sequencing, scientists are beginning to look for rare variants ...
Some genetic mutations are due to a change in only one base of the genetic code, while others involve large regions of the genome. | Genetics And Genomics
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Pharmacogenomics is a key component of personalized medicine (1). Therapy targeted to a specific patient based on his or her genetically determined pathophysiology responsible for the disease offers the possibility of significantly improving patient care and reducing costs. However, despite the clear public health and economic benefits that would be attained by such an approach, this paradigm has not been successfully applied to a common disease.. Cardiovascular disease (CVD) is responsible for 75% of deaths among individuals with diabetes, and yearly expenditures for CVD in diabetes exceed $200 billion (2). Neither conventional risk factors nor the degree of glycemic control adequately predict which individuals with diabetes develop CVD, suggesting the existence of genetic susceptibility factors.. A polymorphism in the haptoglobin (Hp) gene may define which individuals with diabetes are at greatest risk of CVD. There exist two classes of alleles at the Hp locus denoted 1 and 2 with three ...
Introduction to Genetics and Evolution is a college-level class being offered simultaneously to new students at Duke University. The course gives interested people a very basic overview of some principles behind these very fundamental areas of biology. We often hear about new genome sequences, commercial kits that can tell you about your ancestry (including pre-human) from your DNA or disease predispositions, debates about the truth of evolution, why animals behave the way they do, and how...
Association of RNASEL and 8q24 variants with the presence and aggressiveness of hereditary and sporadic prostate cancer in a hispanic population ...
NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity (pages 750-755). L. M. Dibbens, ,, J. Ekberg, I. Taylor, B. L. Hodgson, S.-J. Conroy, I. L. Lensink, S. Kumar, M. A. Zielinski, L. A. Harkin, , G. R. Sutherland, , D. J. Adams, S. F. Berkovic, I. E. Scheffer, , J. C. Mulley and , P. Poronnik. Version of Record online: 9 JAN 2007 , DOI: 10.1111/j.1601-183X.2007.00305.x. ...
During the last cycle of this Program Project (PPG), genome-wide association study (GWAS) technology has created a revolution in complex genetics. We have contr...
Video created by Novosibirsk State University for the course From Disease to Genes and Back. In contrast to Mendelian disorders that are controlled by a mutation in one gene, the multifactorial disorders are more complex, thus the name. These ...
Abstract. The traditional method for creating a gene score to predict a given outcome is to use the most statistically significant single nucleotide polymorphisms (SNPs) from all SNPs which were tested. There are several disadvantages of this approach such as excluding SNPs that do not have strong single effects when tested on their own but do have strong joint effects when tested together with other SNPs. The interpretation of results from the traditional gene score may lack biological insight since the functional unit of interest is often the gene, not the single SNP. In this paper we present a new gene scoring method, which overcomes these problems as it generates a gene score for each gene, and the total gene score for all the genes available. First, we calculate a gene score for each gene and second, we test the association between this gene score and the outcome of interest (i.e. trait). Only the gene scores which are significantly associated with the outcome after multiple testing ...
Our division studies the causes of cancer in population groups with the aim of identifying and, if possible, avoiding risk factors so as to prevent cancer. Our key focus is on the quantification of risks associated with lifestyle, nutrition and metabolism, and immune factors. In addition, we address the question of how lifestyle may interact with genetic susceptibility factors in cancer development, as well as in cancer survival ...