• Objective-Susceptibility to atherosclerosis is genetically complex, and modifier genes that do not operate via traditional risk factors are largely unknown. (scite.ai)
  • We suspect that genes or loci that contribute to coronary artery disease (CAD) may also play a role in the pathogenesis of gout, since hyperuricaemia leads to gout, and serum uric acid (SUA) levels are potential risk factors for CAD. (her2signaling.com)
  • The CDKN2A/B locus contains genes encoding cell cycle inhibitors, including p16 Ink4a , which have not yet been implicated in the control of hepatic glucose homeostasis. (diabetesjournals.org)
  • This result strengthens support for the hypothesis that shared susceptibility genes within this chromosomal locus might be involved in the pathogenesis of both CHD and gAgP. (biomedcentral.com)
  • Following on from the achievements in molecular studies of monogenic disorders, recent studies have used strategies of hypothesis-free fine mapping of genes and loci to identify underlying factors in common complex diseases with major impacts on public health. (biomedcentral.com)
  • Until recently, detection of the genes underlying these diseases met with only limited success, but the past two years have witnessed the identification of more than 100 well established loci. (biomedcentral.com)
  • A genetic aetiology has been identified in up to 20% of apparently "sporadic" and 60% of familial ALS cases, in which two or more family members are clinically affected, with at least 16 genes and genetic loci implicated in ALS pathogenesis. (acnr.co.uk)
  • All the four genes examined do not donate to the hereditary risk for Compact disc in the Dutch human population. (researchdataservice.com)
  • One branch from the category of serine protease inhibitors can be that of the Kazal type (genes on chromosome 5q32 that currently included and ABT-263 (Navitoclax) IC50 family 1, 2, and 4 possess a similar size and framework coded for by 4 exons with an individual Kazal type serine protease inhibitor site. (researchdataservice.com)
  • Using a new and powerful technology in the form of a genome-wide chip that genotypes up to hundreds of thousands of SNPs, Genome-Wide Association Studies (GWAS) have recently led to the discovery of a group of novel genes that were reproducibly associated with T2DM risk. (scialert.net)
  • INK4 locus is located on human chromosome 9p21 region and encodes three tumor suppressor genes, p15, p16 and ARF. (esmo.org)
  • So far, we revealed that a long non-coding RNA (lncRNA), ANRIL, transcribed from INK4 locus represses the transcription of p15 and p16 genes. (esmo.org)
  • The expression analysis of INK4 locus genes was performed by quantitative reverse transcription-polymerase chain reaction (Q-RT-PCR). (esmo.org)
  • Other mutations include mutations of CDKN2A on chromosome 9p21 - the gene encoding p16 (p161NK4a) and p14ARF - and mutations of CDKN2B - the gene encoding p15 (p151NK4b). (infinitypath.com.au)
  • Recent genome-wide association studies have revealed strong associations between the CDKN2A/B locus and T2D risk. (diabetesjournals.org)
  • Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). (escholarship.org)
  • Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke. (nature.com)
  • Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke. (nature.com)
  • Early studies used the candidate gene approach to identify rare genetic variants contributing to traditional risk factors including plasma levels of LDL/VLDL, HDL, lipoprotein (a), homocysteine, and blood pressure. (scite.ai)
  • The AUC for age, BMI, and sex was 0.78, and adding the genetic risk variants only marginally increased this to 0.80. (diabetesjournals.org)
  • New approaches, including identification of causal variants, rare variants and copy number variants, such as insertions and deletions, may improve genetic risk prediction for SAH and intracranial aneurysms. (biomedcentral.com)
  • T2DM is a complex trait where common genetic variants having modest individual effects act together and interact with environmental factors to modulate the risk of the disease. (scialert.net)
  • GAS5 is found on chromosome 1q25.1, with the gene containing 12 exons across a 4.087 kb region, coding for 29 different GAS5 splicing variants [ 11 ]. (hindawi.com)
  • All studies reported a strong association of a region of elevated linkage disequilibrium (LD) on human chromosome 9p21.3 with CHD. (biomedcentral.com)
  • The chromosome 9p21.3 coronary heart disease risk allele is associated with altered gene expression in normal heart and vascular tissues. (cdc.gov)
  • A recent genome-wide association study of intracranial aneurysms in Finnish, Dutch and Japanese cohorts totaling 5,891 cases and 14,181 controls identified three new loci strongly associated with intracranial aneurysms on chromosomes 18q11.2 and 10q24.32, and replicated two previously found loci on chromosomes 8q11.23-q12.1 and 9p21.3. (biomedcentral.com)
  • Improvement in metabolic risk factors for coronary heart disease associated with cilazapril treatment. (nhri.edu.tw)
  • Thus, the LM stenosis localized patients at the higher risk of cardiovascular events because of the extent of jeopardized myocardium and, therefore, has been considered as the most prognostically important coronary lesion. (biomedcentral.com)
  • Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events: A GENIUS-CHD Study of Individual Participant Data. (krakow.pl)
  • Subsequent Event Risk in Individuals with Established Coronary Heart Disease: Design and Rationale of the GENIUS-CHD Consortium. (krakow.pl)
  • Genome-wide association studies (GWAS) in Iceland, Australia, New Zealand, and Finland have indicated a possible susceptibility locus on chromosome 2 although complete agreement does not exist as to the specific location. (mhmedical.com)
  • This area provides the CELIAC2 susceptibility locus that surfaced frequently in linkage research (Babron et al. (researchdataservice.com)
  • RESEARCH DESIGN AND METHODS- We assessed index single nucleotide polymorphisms (SNPs) for the 18 independent loci in 2,598 control subjects and 2,309 case subjects from the Genetics of Diabetes Audit and Research Tayside Study. (diabetesjournals.org)
  • MethodsTo evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12599 BRCA1 and 7132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. (escholarship.org)
  • In addition, a number of different genetic determinants of IS risk have been identified in genome-wide association studies, with single-nucleotide polymorphisms (SNPs) in 9p21, PITX2, HDAC9, ABO, NINJ2, ALDH2, and TSPAN2, all being linked with stroke susceptibility [ 2 ]. (hindawi.com)
  • We now report confirmation of this locus in congenic strains carrying the MOLF-derived susceptibility allele in the C57BL/6J-Ldlr Ϫ/Ϫ genetic background. (scite.ai)
  • 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). (escholarship.org)
  • In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. (escholarship.org)
  • ResultsOnly SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele Hazard Ratio (HR)= 0.87, 95%CI:0.81-0.94, P-trend=3x10^-4). (escholarship.org)
  • A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). (nih.gov)
  • When study participants were stratified according to environmental factors, we found that the rs145204276 del allele was correlated with a higher risk of IS in male, smokers, hypertensive, and those ≥65 years old. (hindawi.com)
  • Additional stratification conforming to IS subtypes exhibited that individuals carrying the rs145204276 del allele conferred a higher risk of expanding a larger artery atherosclerosis stroke subset. (hindawi.com)
  • However, these five intracranial aneurysm risk loci identified so far explain only up to 5% of the familial risk of intracranial aneurysms, which makes genetic risk prediction tests currently unfeasible for intracranial aneurysms. (biomedcentral.com)
  • However, other loci have been reported from GWAS of populations including 10q21.3, 2p25.1, 9p21, 2p11.2, and 4q34 reflecting the multifactorial nature of pre-eclampsia and limitations of GWAS applications. (mhmedical.com)
  • Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. (wikipedia.org)
  • There was a significantly Vorinostat order increased risk of gout in carriers of the CC genotype (odds ratio = 1.43, 95% CI 1.07, 1.91). (her2signaling.com)
  • Association of haptoglobin genotype and common cardiovascular risk factors with the amount of iron in atherosclerotic carotid plaques. (cdc.gov)
  • Mutations in SPAG8 were not encountered in 34 other unexplained ALS pedigrees, including 1 with linkage to chromosome 9p13.223.3. (cdk-receptor.com)
  • The shared haplotype containing the SPAG8 variant selleck products in this small pedigree was 22.7 Mb and overlapped with the core 9p21 linkage locus for ALS and frontotemporal dementia. (cdk-receptor.com)
  • 2005). Also, is situated on chromosome 9p13.3 and resides within a linkage area (9p21-13) where we previously identified a ABT-263 (Navitoclax) IC50 book Compact disc locus that segregated within a four-generation Dutch family members (vehicle Belzen et al. (researchdataservice.com)
  • Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. (nih.gov)
  • Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma The locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. (nih.gov)
  • The familial preponderance suggests a genetic component in the risk for SAH. (biomedcentral.com)
  • For presence of aneurysms, atherosclerosis, a familial preponderance and polycystic kidney disease are the main risk factors. (biomedcentral.com)
  • A novel rare coding variant in SPAG8 on chromosome 9p13.3 segregated with the disease and was not observed in controls. (cdk-receptor.com)
  • CDKN2B-AS, also known as ANRIL (antisense non-coding RNA in the INK4 locus) is a long non-coding RNA consisting of 19 exons, spanning 126.3kb in the genome, and its spliced product is a 3834bp RNA. (wikipedia.org)
  • ANRIL associates with polycomb protein complexes and recruits them on INK4 locus, leading to the transcriptional repression. (esmo.org)
  • In this study, we showed that LION is involved in the transcriptional regulation of INK4 locus and cell proliferation. (esmo.org)
  • Q-RT-PCR analysis showed that silencing LION increases the p15 and p16 mRNA, suggesting that LION is involved in the transcriptional repression of INK4 locus. (esmo.org)
  • Vysis® UroVysion® is a molecular cytology test that detects aneuploidy of chromosomes 3, 7, and 17 and deletion of the 9p21 locus via fluorescence in situ hybridization in urine specimens. (healthybladderclub.com)
  • Methods and Results-We previously identified atherosclerosis susceptibility QTL (Athsq1) on chromosome 4 acting independently of systemic risk factors. (scite.ai)
  • Conducting studies in mice with atherosclerosis, the researchers showed that loss of a candidate gene at this locus leads to impaired "efferocytosis" - from the Latin for "take to the grave" - the process by which dead or necrotic cells are removed. (stanford.edu)
  • Homozygous loss of band 9p21, the site for the tumor suppressor gene P16, is a known early genetic event in the development of papillary carcinoma and urothelial carcinoma in situ (CIS). (medscape.com)
  • For intermediate-risk patients whose first surveillance cystoscopy is negative for tumor, perform subsequent cystoscopy with cytology every 3-6 months for 2 years, then 6-12 months for years 3 and 4, and then annually thereafter. (medscape.com)
  • Interestingly, comparative mapping revealed that the Athsq1 congenic interval contains the mouse region homologous to a widely-replicated CHD locus on human chromosome 9p21. (scite.ai)
  • And all of your bricks are neatly organized into 23 pairs of brick pileseach pile is one of your paired homologous chromosomes, more or less. (healthybladderclub.com)
  • BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. (escholarship.org)
  • You can be a non-smoker, be thin, have low blood pressure, and still be at risk for a heart attack if you were born with this variant. (stanford.edu)
  • Our study supports a model wherein the rs145204276 variant in the GAS5 lncRNA is associated with IS risk, thus representing a potentially viable biomarker for IS prevention and treatment. (hindawi.com)
  • Conventional stroke risk factors such as hypertension, atrial fibrillation, cigarette smoking, diabetes mellitus and obesity are well established. (bmj.com)
  • However, these factors do not entirely account for the occurrence of stroke in unexposed populations and also fail to explain the incidence of stroke in select individuals within a population that is uniformly exposed to environmental risk factors. (bmj.com)
  • Genetic factors have been implicated in stroke risk, but few replicated associations have been reported. (nature.com)
  • In addition to age, epidemiologic studies have revealed multiple risk factors for the condition including elevated intraocular pressure (IOP), African-American race, family history and low ocular perfusion pressure [3] - [5] . (prolekarniky.cz)
  • The genetic factors associated with an increased risk for the development of AK are those that result in constitutional sensitivity to sunlight, such as childhood freckling, blue eyes, and blond or red hair. (infinitypath.com.au)
  • The objective of the current retrospective study LDK378 was to compare the epidemiology of candidemia and its risk factors in patients who had hematologic malignancies(HM) with those in patients who had solid tumors (ST).\n\nMETHODS. (cdk-receptor.com)
  • Recently, this region has also been shown to be associated with Aggressive Periodontitis (AgP), strengthening the hypothesis that the established epidemiological association between periodontitis and CHD is caused by a shared genetic background, in addition to common environmental and behavioural risk factors. (biomedcentral.com)
  • As for AgP, it has been known for a long time that CHD is strongly influenced by genetic factors [ 6 ], but it was not until recently that genetic risk loci contributing to the development of the disease were identified. (biomedcentral.com)
  • It is assumed that, in addition to common environmental and behavioural risk factors, this association might also be based on a shared genetic background. (biomedcentral.com)
  • Environmental and genetic risk factors both have a role in SAH. (biomedcentral.com)
  • Therefore, prevention seems an attractive option to reduce the burden of SAH, and knowledge on risk factors is essential for the development of preventive measures. (biomedcentral.com)
  • Risk factors for SAH can be divided into modifiable - or environmental - and non-modifiable risk factors. (biomedcentral.com)
  • It therefore seems relevant to discriminate risk factors for SAH into risk factors for the presence of an aneurysm and risk factors for rupture of aneurysms. (biomedcentral.com)
  • On the other hand, only the size and site of the aneurysm, age and gender have been consistently identified as risk factors for rupture of aneurysm. (biomedcentral.com)
  • All in all, our knowledge of risk factors for both the development and rupture of intracranial aneurysms remains rather meager, and hopes are high that genetic research will further increase our understanding of such risk factors. (biomedcentral.com)
  • Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting. (krakow.pl)
  • 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. (escholarship.org)
  • All four loci exhibited evidence for heterogeneity of effect across the stroke subtypes, with some and possibly all affecting risk for only one subtype. (nature.com)
  • Figure 3: Genetic heterogeneity of different stroke subtypes for the four loci with significant associations. (nature.com)
  • showed that the GAS5 rs55829688 promoter polymorphism alters the ability of the Yin-Yang 1 (YY1) transcription factor to bind to this region, thereby increasing GAS5 expression and elevated colorectal cancer risk [ 13 ]. (hindawi.com)
  • A possible clinical use of this information is to identify individuals at high risk of developing the disease, so that preventative measures may be more effectively targeted. (diabetesjournals.org)
  • The discriminatory ability of the combined SNP information was assessed by grouping individuals based on number of risk alleles carried and determining relative odds of type 2 diabetes and by calculating the area under the receiver-operator characteristic curve (AUC). (diabetesjournals.org)
  • RESULTS- Individuals carrying more risk alleles had a higher risk of type 2 diabetes. (diabetesjournals.org)
  • This may lead to diagnostic tools for identifying individuals at increased risk for aneurysm formation and rupture of aneurysms. (biomedcentral.com)
  • These findings indicate that the TaqIB polymorphism may have potential importance in screening individuals at high risk for developing CAD. (biomedcentral.com)
  • However, there is no clear consensus on the association between hypertension and the risk of diabetes. (bvsalud.org)
  • Because both loci influence transforming growth factor beta (TGF-beta) signaling, we performed a genomic pathway analysis that showed an association between the TGF-beta pathway and NPG (permuted p = 0.009). (prolekarniky.cz)
  • We used Mendelian randomization approaches to evaluate the association of height and BMI on breast cancer risk, using data from the Consortium of Investigators of Modifiers of BRCA1/2 with 14 676 BRCA1 and 7912 BRCA2 mutation carriers, including 11 451 cases of breast cancer. (escholarship.org)
  • BACKGROUND: The coexistence of hypertension and type 2 diabetes mellitus (T2DM) may largely increase the risk for cardiovascular disease. (bvsalud.org)
  • Leeper, a physician and assistant professor of vascular surgery, and colleagues Yoko Kojima, MD, Tom Quertermous , MD, and others set out to discover why genetic variation at the chromosome 9p21 location has been repeatedly identified as the most important commonly inherited DNA sequence for a wide range of cardiovascular diseases including stroke, heart attacks and aneurysms. (stanford.edu)
  • Patients affected by the normal-pressure form of glaucoma are more likely to harbor risk alleles for glaucoma-related optic nerve disease. (prolekarniky.cz)
  • 24 risk alleles had an odds ratio of 4.2 (95% CI 2.11-8.56) against the 1.8% with 10-12 risk alleles. (diabetesjournals.org)
  • AbstractIntroductionSeveral common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. (escholarship.org)
  • The fairly high rate of progression to muscle-invasive disease (30%) in patients with high-risk NMIBC require more frequent monitoring by urine cytology and cystoscopy, the gold standard for detection of bladder cancer recurrence. (medscape.com)
  • For all NMIBC risk levels, the NCCN recommends baseline upper tract and abdominal/pelvic imaging in year 1, then imaging as clinically indicated. (medscape.com)
  • If you were born with genetic variation at the 9p21 locus, your risk of heart disease is elevated, though we haven't understood why. (stanford.edu)
  • This work may help explain that inherited risk factor, and more importantly help develop a new therapy to prevent the heritable component of cardiovascular disease. (stanford.edu)
  • ConclusionsThe present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers. (escholarship.org)
  • The high rate of recurrence (70%) is the key clinical concern in low- and intermediate-risk disease. (medscape.com)
  • Since then, the consortium she leads, GERAD (Genetic and Environmental Risk in Alzheimer's Disease), has continued the momentum and has played a leading role in further discoveries. (cardiff.ac.uk)
  • No prior knowledge of gene or gene effects is necessary, but the genetic locus must have sufficient impact on the disease susceptibility to be detectable. (scialert.net)
  • Lifetime risk of T2DM development is 40% in offspring of one T2DM parent and increases up to 70% if both parents have T2DM ( Groop and Tuomi, 1997 ). (scialert.net)
  • These similarities point towards the possibility that both diseases have common underlying pathogenic mechanisms, modulated by shared genetic susceptibility loci. (biomedcentral.com)
  • In asymptomatic patients with a history of low-risk NMIBC, do not perform routine surveillance upper tract imaging. (medscape.com)
  • For intermediate- or high-risk patients, consider performing surveillance upper tract imaging at 1- to 2-year intervals. (medscape.com)
  • 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). (escholarship.org)
  • Recent studies by the IGAP consortium have identified over 27 new susceptibility loci for AD. (cardiff.ac.uk)
  • Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains unclear. (escholarship.org)
  • and CMM10 (615848), caused by mutation in the POT1 gene (606478) on chromosome 7q31. (nih.gov)
  • We replicated previous associations for cardioembolic stroke near PITX2 and ZFHX3 and for large vessel stroke at a 9p21 locus. (nature.com)
  • In European-based population studies the incidence of ALS appears uniform at 2.16 per 100,000 person-years with a prevalence of 4-6 per 100,000, 6 with a lifetime risk of developing ALS being 1 in 400, where the incidence is slightly higher in males [1.2-1.5:1]. (acnr.co.uk)
  • During recent years, he was often admitted for dyspnea, dizziness, or edema and was advised to undergo intracardiac repair, but he rejected this due to the high risk of the surgery. (bvsalud.org)