• The gene was screened for mutations by denaturing high-performance liquid chromatography. (nih.gov)
  • MODY can result from mutations in any one of the six different genes, one of which encodes the glycolytic enzyme Glucokinase, associated with MO-DY2 and the other five encode transcription factors HNF4-alpha associated with MODY 1, HNF1-alpha associated with MODY 3, IPF with MODY 4, HNF1-Beta with MODY 5 and NeuroD1 with MO-DY6. (scirp.org)
  • Studies related to mutations in the MODY genes have led to a better understanding of the genetic causes of the Beta cell dysfunction as genetic factors plays a great role in this disorder. (scirp.org)
  • Conclusions: Since maximum number of variations exists in exon 5 of the said gene, hence one can initially go for exon5 followed by other exons, while screening for pathogenic MODY 3 mutations in the responsible gene by PCR-SSCP method. (scirp.org)
  • 1999) High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. (scirp.org)
  • Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1]. (nih.gov)
  • Changes in these genes (also called 'variants' or 'mutations') can lead to BMFS. (petermac.org)
  • The significance of the PI3K deletion rather than the mutations affecting the gene opens novel opportunities for impacting life span. (farmavita.net)
  • In a study of more than 5,000 Kenyan children, Edinburgh researchers with colleagues from Oxford, Kenya and Mali examined two variations, or mutations - known as Sl2 and McCb - in a gene called CR1. (ed.ac.uk)
  • A 2023 study , for example, found a link between AUD and mutations in a group of genes previously identified for their role in neuronal plasticity and pain perception. (healthline.com)
  • They found that there are many genes that show these mutations, but in autistic children they cluster in three genes: KATNAL2, CHD8, and SCNAL2. (wesa.fm)
  • A common form of MODY is due to mutations in the HNF1A gene. (cdc.gov)
  • Although mutations in the gene underlying MODY were identified before the GWAS era, they could have important implications for patients and their relatives, as many patients with HNF1A‑MODY are better managed with sulphonylureas than with metformin or insulin. (cdc.gov)
  • The enormous variants and mutations found mean that we are still far from being able to concretely clarify a genotype-phenotype relationship. (bvsalud.org)
  • Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population. (nih.gov)
  • Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. (wakehealth.edu)
  • TCF7L2 was discovered as a type 2 diabetes susceptibility gene after a strong linkage signal was mapped to chromosome 10q in a Mexican-American population. (medscape.com)
  • [ 29 ] These data suggest that genetic susceptibility to T2DM as determined by TCF7L2 variants might prove an actionable indicator for early intervention and disease prevention. (medscape.com)
  • Another variation of the same gene can have the opposite effect of raising susceptibility to malaria - but it reduces the risk of other common childhood diseases, the study found. (ed.ac.uk)
  • Genetic susceptibility: Future human studies should include genotyping of GST variants. (cdc.gov)
  • Other candidate genes for genetic susceptibility includes those involve in regulating immune function. (cdc.gov)
  • Studies should also be conducted using entire genome scans to identify new susceptibility genes. (cdc.gov)
  • These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
  • The objective of this study (ClinTrials.gov identifier: NCT01045070) was to assess the prognostic impact of CRP protein levels and genetic variants of CRP gene events on cardiovascular (CV) outcome (10-year follow-up) in patients suffering from CVD. (uni-halle.de)
  • Ets variant 2 is a protein that in humans is encoded by the ETV2 gene. (wikipedia.org)
  • The gene, also found in humans, produces an important protein called ATM which senses DNA damage caused by reactive oxygen species and directs other proteins to repair it. (sciencedaily.com)
  • If future research found that humans had the same sort of ATM sensitivity as mice, he says, it would suggest the potential for diagnostic tests to determine if an embryo is at risk for birth defects because it lacks the gene and even for possible protein therapies to help counteract ATM deficits in embryos. (sciencedaily.com)
  • The ApoE gene codes for a protein that ferries fats around the body. (medicalnewstoday.com)
  • The mouse Pitx2 gene encodes three distinct protein isoforms (Pitx2a, b, c), and Pitx2c plays a determinant role in left-right atrium signaling from early somitogenesis onward 5 . (nature.com)
  • In this study, we found that NS1 protein inhibits IRF-3-dependent gene transcription in constitutively active IRF-3 overexpressing cells, demonstrating that NS1 directly targets IRF-3. (microbiologyresearch.org)
  • Rotavirus nonstructural protein 1 subverts innate immune response by inducing degradation of IFN regulatory factor 3. (microbiologyresearch.org)
  • The GWAS approach also demonstrated associations of common variants in HNF1A with levels of C-reactive protein, which is a potential biomarker of the condition. (cdc.gov)
  • NRL interacts with homeodomain protein CRX and numerous other regulatory factors to control expression of most rod-expressed genes. (nih.gov)
  • The impor- objectives of determining the frequencies tance of FVII in normal haemostasis is il- of these gene polymorphisms in the popula- lustrated by the severe bleeding diathesis tion and clarifying the genotype association associated with low plasma levels of the of the R353Q and 0/10 bp insertion poly- protein [ 3 ]. (who.int)
  • We propose to test our hypotheses that severity/course of PTSD can predict the risk of CKD and to identify gene/protein variants that link the pathogenesis of PTSD and CKD in WTC responders. (cdc.gov)
  • The sequence of the SzP protein gene, or szP, has been shown to vary greatly between different strains of S. zooepidemicus and the variable regions of szP can be used to genetically differentiate strains within the subspecies. (cdc.gov)
  • Even when the effects of disease-linked rare genetic variants are factored in, most of schizophrenia's known high inheritance remains unexplained. (nih.gov)
  • This resource, provided to the scientific community, will allow the most rigorous tests to-date of the roles of these variants in behavioral and psychiatric phenotypes. (nature.com)
  • Our findings demonstrate how the local environment directly affects disease risk phenotypes and that genetic variation, including less common variants, can modulate individual's response to environmental challenges. (nature.com)
  • These genes were selected based on their role in asthmatic inflammatory processes and History previously reported associations with asthma phenotypes. (cdc.gov)
  • Of these mediators, cytokines play a single nucleotide polymorphisms (SNP) in pro-inflammatory cytokine genes and asthma phenotypes (Che et al. (cdc.gov)
  • Objective: To investigate the mutation pattern in the different transcription factor genes with special reference to HNF1-alpha which are highly penetrant with 63% mutation carriers manifesting clinical diabetes by the age of 25 years. (scirp.org)
  • Using real-time quantitative reverse transcription PCR assays, we measured mRNA concentrations of total HIF-1α and 4 variants in breast tissue specimens in a series of 29 normal tissues or benign lesions (normal/benign) and 53 primary carcinomas. (biomedcentral.com)
  • These subunits are members of the basic helix-loop-helix (bHLH) transcription factor superfamily containing a PAS [PER (Period Clock) -ARNT-SIM (Single-minded)] domain [ 2 ]. (biomedcentral.com)
  • It is a transcription factor and also plays a role in vascular endothelial cell development. (wikipedia.org)
  • The transcription factor RBPJ is an integral part of the Notch signaling cascade. (mdpi.com)
  • The PITX gene encode the paired-like homeodomain transcription factor family. (nature.com)
  • The transcription factor interferon regulatory factor (IRF)-3 is essential for viral-induced IFN-β synthesis. (microbiologyresearch.org)
  • Transcription factor 7-like 2 ( TCF7L2 ) variants have been associated with type 2 diabetes mellitus (T2DM) in multiple ethnic groups. (medscape.com)
  • We previously discovered that that Maf-family bZIP transcription factor NRL is critical for rod photoreceptor fate and functional differentiation, and that loss of NRL leads to S-cones instead of rods. (nih.gov)
  • We are now focused on delineating the transcription factors and signaling pathways that are responsible for generating photoreceptors from retinal progenitor cells. (nih.gov)
  • 2018) Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk. (harvard.edu)
  • Methods: In our study enzyme amplification (PCR) of the 10 target exons of the said gene with simultaneous mutation detection in them by PCR-SSCP (Polymerase chain reaction-single strand conformational polymorphism) reaction analysis method was attempted by screening of exon 1 - 10 with respect to normal healthy controls without Diabetes Mellitus. (scirp.org)
  • 2001) Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. (scirp.org)
  • After attributing a regional and/or continental ancestry to each individual using genome-wide polymorphism data, we are able to capture the effect of different environmental exposures on gene expression and health-related traits, while simultaneously controlling for genetic relatedness and migration. (nature.com)
  • The Q353 allele of the factor VII gene polymorphism is associated with decreased factor VII and could be protective against cardiovascular disease. (who.int)
  • Some of the most widely studied variants in psychiatric genetics include variable number tandem repeat variants (VNTRs) in SLC6A3, DRD4, SLC6A4 , and MAOA . (nature.com)
  • Several risk factors may play a role in the development of anorexia nervosa, including social pressures, other mental health conditions, and family history and genetics. (medicalnewstoday.com)
  • New research published in the journal Nature Genetics provides a big step in figuring out why some people suffer from depression while others don't, identifying 44 genetic variants that are risk factors for major depression, 30 of which are new. (mentalfloss.com)
  • Your genetics can influence how likely you are to develop AUD, but there's currently no evidence of a specific gene that directly causes AUD once you start drinking. (healthline.com)
  • While genetics can play a significant role in your overall AUD risk assessment, it isn't the only factor that can elevate your chances of developing AUD. (healthline.com)
  • Kihiczak et al report that KTWS may result from a pathogenic gene for vascular and tissue overgrowth. (medscape.com)
  • Hence study of mutation pattern in this gene is essential in our population i.e . (scirp.org)
  • Scientists also revealed that the impact of both gene variations is linked to whether or not individuals carry a third genetic mutation. (ed.ac.uk)
  • By studying the complex relationships between the gene variants, researchers found that the Sl2 mutation in the CR1 gene protects against cerebral malaria and death - but only if children did not carry a third gene mutation, known as alpha-thalassaemia. (ed.ac.uk)
  • A genetic mutation causes increased plasma levels of prothrombin (factor II), predisposing to venous thrombosis. (msdmanuals.com)
  • Direct oral anticoagulants (DOACs) or warfarin can be used for prevention and treatment of venous thrombosis in patients with one (heterozygosity) or two (homozygosity) copies of the prothrombin 20210 gene mutation. (msdmanuals.com)
  • Hypoxia-inducible factor 1 (HIF-1) is a master transcriptional regulator of genes regulating oxygen homeostasis. (biomedcentral.com)
  • How do distinct transcriptional regulatory proteins coordinate their job with extrinsic factors and the microenvironment? (nih.gov)
  • Do disease-associated non-coding variants primarily reside in transcriptional control elements? (nih.gov)
  • Your genetic risk refers to the likelihood that specific genes or genetic variants passed down to you will lead to a particular condition. (healthline.com)
  • In a study published online by the FASEB Journal in March, researchers at U of T's Leslie Dan Faculty of Pharmacy found that mice embryos genetically engineered to lack one or both copies of the ATM gene and then exposed to ionizing radiation and a subsequent overload of reactive oxygen species were at increased risk for dying in utero, developing birth defects or experiencing other developmental problems after birth. (sciencedaily.com)
  • We describe the imputation procedures of these candidate variants in 486,551 UK Biobank individuals, and have made the imputed variant data available to UK Biobank researchers. (nature.com)
  • After analyzing health data on many older people who were followed for years, Stanford researchers in the US concluded that carrying a copy of the ApoE4 gene variant gives women a much higher risk for developing Alzheimer's than it does men. (medicalnewstoday.com)
  • But when they looked more closely, the researchers found among those without MCI when they started being monitored, men with the ApoE4 variant had only a slightly higher risk, whereas women carrying the gene version had nearly double the risk of progressing to MCI or Alzheimer's, compared with non-carriers. (medicalnewstoday.com)
  • The researchers found that all humans carry some of the 44 risk factors identified. (mentalfloss.com)
  • Some of the risk factors the researchers identified are also involved in other psychiatric disorders, like schizophrenia, which isn't entirely surprising-a 2007 study from the Psychiatric Genomics Consortium found that people with depression, bipolar disorder, and schizophrenia as well as developmental disorders like ADHD and autism share the same variations in four locations in their genetic code. (mentalfloss.com)
  • Researchers have discovered that gene expression regulators work together to raise an individual's risk of developing schizophrenia . (nih.gov)
  • The researchers used the model to take a closer look at the downstream molecular consequences of gene expression changes known to occur in schizophrenia, and compared them with changes seen in postmortem brains and similarly modeled neurons of people with the illness. (nih.gov)
  • The researchers experimentally mimicked the interaction of multiple risk genes thought to contribute to schizophrenia. (nih.gov)
  • Researchers have believed that children inherit genes from their parents that cause autism. (wesa.fm)
  • Its still too early to know how those genes might be connected to autism, but the researchers say these discoveries will play a key role in finding more autism genes. (wesa.fm)
  • After researchers accounted for baseline differences in socio-demographic factors such as age, race, ethnicity, language and insurance status, Black kids were 30 percent less likely to get treated by a doctor for the condition. (realhealthmag.com)
  • Researchers tested the association between millions of genetic variants with dyslexia status and found 42 significant variants. (livemint.com)
  • Single nucleotide polymorphisms (SNPs) in various genes have been shown to associate with COPD, suggesting a role in disease pathogenesis. (lu.se)
  • ABSTRACT Single nucleotide polymorphisms (SNPs) in the Interleukin (IL)-28B gene, namely rs12979860, could predict response to pegylated interferon--ribavirin (PR) therapy in hepatitis C virus genotype 1 (HCV-1)-infected patients. (who.int)
  • We've been slowly blinking away at different genes. (wesa.fm)
  • Although these pathways have not been investigated in the human embryo, these findings in mice provide new insights into how the embryo protects itself from oxidative stress and the associated risk factors for embryonic death and abnormal development," says senior author Professor Peter Wells. (sciencedaily.com)
  • If all the bad lemons lined up - if you had a lot of risk factors, such as no ATM gene combined with exposure to certain drugs and lack of other pathways that protect against reactive oxygen species - you'd be in big trouble, according to our theory in mice. (sciencedaily.com)
  • In this article, we will discuss if anorexia is hereditary, risk factors for anorexia, treatment for anorexia, and when a person needs to consider consulting a doctor. (medicalnewstoday.com)
  • This makes TCF7L2 variants the strongest known genetic risk factors for T2DM. (medscape.com)
  • By identifying genetic risk factors associated with major depressive disorder, the scientists hope to increase our understanding of why depression strikes some people and not others. (mentalfloss.com)
  • What are the risk factors for AUD? (healthline.com)
  • Just as risk factors increase your chance of experiencing a condition, protective factors lower your risk. (healthline.com)
  • The DeNovo sequence variants are risk factors for autism. (wesa.fm)
  • Editorial on the Research Topic Inflammation and aging in chronic and degenerative diseases: Current and future therapeutic strategies Inflammation and aging represent the most common risk factors for several chronic and degenerative disorders (Furman et al. (researchgate.net)
  • In addition, GWAS have not fully addressed interactions of genes with disease risk factors such as diet, environmental exposures and infectious diseases. (cdc.gov)
  • This gene encodes one of the mitochondrial translation elongation factors. (nih.gov)
  • Clinical trial of gene-disease association and gene-environment interaction. (nih.gov)
  • Early genetic association studies of psychiatric traits were predicated on optimism regarding the existence of common variants with substantial effects on disease liability [ 1 ]. (nature.com)
  • Our study showed that, among healthy older controls, having one copy of the ApoE4 variant confers a substantial Alzheimer's disease risk in women, but not in men," Prof. Greicius says. (medicalnewstoday.com)
  • http://www.partnershipfortomorrow.ca ) is a cohort comprising over 315,000 Canadians, and captures over 700 variables, ranging from longitudinal health information to environmental exposures, to determine genetic and environmental factors contributing to chronic disease. (nature.com)
  • Genes have complex effects on one another and on the chances of disease. (ed.ac.uk)
  • The genes were selected because they were deemed most likely to confer disease risk by regulating gene expression. (nih.gov)
  • These interactions emphasize the importance of considering the complex nature of schizophrenia and other psychiatric disorders, where a combination of gene variants contributes to disease. (nih.gov)
  • Genome-wide association studies (or GWAS) are large-scale genetic investigations of human disease that measure simultaneously hundreds of thousands of genetic variants scattered throughout the human genome. (cdc.gov)
  • 50 variants) are the highest known for any disease . (cdc.gov)
  • 2018). Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. (harvard.edu)
  • On 09/13/17, NIH grant R01 MH101244 "Rare and common variants in complex disease" (4 PIs: Sunyaev/Price/Kraft/Neale) was awarded to Alkes Price as a subcontract with BWH (Shamil Sunyaev)/NIMH. (harvard.edu)
  • 10976 in exon 8 in the catalytic region of ing factors that may increase cardiovascu- the FVII gene and an insertion of a decanu- lar disease. (who.int)
  • An intronic variant ( Int7G24A ) of TGF-β receptor type I ( TGFBR1 ) is associated with kidney and bladder cancers in our recent study. (aacrjournals.org)
  • Title : An intronic variant in the CELF4 gene is associated with risk for colorectal cancer Personal Author(s) : Teerlink, Craig C.;Stevens, Jeff;Hernandez, Rolando;Facelli, Julio C.;Cannon-Albright, Lisa A. (cdc.gov)
  • [ 28 ] In fact, the predictive power of TCF7L2 variants disappears with lifestyle modifications or metformin treatment, although improved insulin sensitivity resulting from these changes directly opposes the pathologic influence of TCF7L2 variants. (medscape.com)
  • They play important roles in the pain pathway where in concert with proinflammatory factors such as leukotrienes they mediate sensitization and hyperalgesia. (researchgate.net)
  • This pathway, and this gene, is known to limit lifespan on C. elegans and, with lesser evidence, thought to affect life span in dipteran insects and mammals. (farmavita.net)
  • The transforming growth factor-β (TGF-β) signaling pathway has been frequently implicated in breast cancer. (aacrjournals.org)
  • To investigate sequence variations in the optineurin (OPTN) gene and their association with TNF-alpha polymorphisms in Japanese patients with glaucoma. (nih.gov)
  • This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
  • The isolates were analyzed using pulsed-field gel electrophoresis, multilocus sequence typing and sequencing of the szP gene. (cdc.gov)
  • The impact of HIF-1α alternative splice variant expression on breast cancer prognosis in terms of metastasis risk is not well known. (biomedcentral.com)
  • Our results show for the first time that mRNA expression of a HIF-1α TAG splice variant reflects a stage of breast cancer progression and is associated with a worse prognosis. (biomedcentral.com)
  • Upon depletion of RBPJ using CRISPR/Cas9, we observed specific upregulation of Notch target gene expression. (mdpi.com)
  • Oxidant tone regulates RANTES gene expression in airway epithelial cells infected with respiratory syncytial virus. (microbiologyresearch.org)
  • We used an integrative approach to comprehensively assess the interactions between 1.6 million data points, encompassing a range of environmental exposures, health, and gene expression levels, coupled with whole-genome genetic variation. (nature.com)
  • Air pollution impacts gene expression and pathways affecting cardio-metabolic and respiratory traits, when controlling for genetic ancestry. (nature.com)
  • Modeled gene expression changes match those found in patients' brains. (nih.gov)
  • Schizophrenia-like gene expression changes modeled in human neurons matched changes found in patients' brains. (nih.gov)
  • One possible clue: more than 40% of the suspect chromosomal sites contain regulators, called expression quantitative trait loci, or eQTLs, that govern the expression of multiple genes. (nih.gov)
  • They used the gene editing tool CRISPR to simultaneously increase or decrease expression of four schizophrenia-implicated genes known to harbor eQTLs. (nih.gov)
  • To trigger changes in the direction predicted to heighten risk for schizophrenia, expression was increased for three of the genes and decreased for one. (nih.gov)
  • Manipulating expression of the four genes altered expression of 1,261 other genes - 665 increased and 596 decreased. (nih.gov)
  • The experimentally induced gene expression changes mirrored those seen in postmortem brains of people with the three mental illnesses. (nih.gov)
  • This study demonstrates for the first time that alcohol exposure can cause rapid changes in microRNA levels, altering gene expression, and perhaps behavior," added Antonio Noronha, Ph.D., director of NIAAA's Division of Neuroscience and Behavior. (nih.gov)
  • How do numerous non-coding variations in the human genome affect gene expression in the retina? (nih.gov)
  • Despite broad and continued interest in contributions of these variants to psychiatric outcomes, the validity of much of the research supporting their relevance remains controversial. (nature.com)
  • A much smaller overlap of the genes associated with dyslexia was found for psychiatric, lifestyle, and health conditions. (livemint.com)
  • An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes. (tripod.com)
  • A genomic analysis can identify gene variants whose pathogenicity. (pasteur.fr)
  • In breast cancers HIF-1α splice variant levels were compared to clinicopathological parameters including tumour microvessel density and metastasis-free survival. (biomedcentral.com)
  • Result: It was observed that maximum number of variations exist in exon 5 of HNF1-alpha gene which may be referred to as "Mutational Hotspot" in our Eastern Indian population. (scirp.org)
  • If a person inherits atypical variations of certain genes, they may be more likely to develop anorexia. (medicalnewstoday.com)
  • These gene variations, common in African populations, were believed to have evolved in response to malaria, but previous studies have been unable to confirm this. (ed.ac.uk)
  • This unexpected synergy between gene variants demonstrated how even subtle genetic variations can impact neuronal function," said Brennand. (nih.gov)
  • [ 44 ] Most studies on the GSK3B gene in bipolar disorder have been negative, but one study reported an increased number of copy-number variations (deletions or duplications) within the gene in a small sample of bipolar disorder patients. (medscape.com)
  • Genetic variations within telomere maintenance genes may influence the risk of developing NSCLC. (bvsalud.org)
  • Further, in order to capture gene-by-environment interactions through eQTL analyses, we combine whole-transcriptome RNA-Sequencing profiles with whole-genome genotyping and extensive fine-scale environmental exposure data. (nature.com)
  • There is an overwhelming need for future studies to similarly model such multi-gene interactions in complex cells and circuits. (nih.gov)
  • Third, for drug development and toxicities, GWAS continues to provide valuable information on gene-drug interactions with the potential to develop safer and more effective drugs as well as to reduce toxicities in the clinical use of existing medications. (cdc.gov)
  • This seminar will provide an introduction to Big Data and machine learning and potential public health applications, including examples from large scale analyses using National Health and Nutrition Examination Survey data to look at gene-environment interactions. (cdc.gov)
  • These findings demonstrated that the OPTN gene is associated with POAG rather than NTG in the Japanese. (nih.gov)
  • The findings in C. elegans are that the deletion of a specific domain of the phosphoinositol-3-kinase (PI3K) gene results in a 10-fold increase in life span. (farmavita.net)
  • These findings point towards avenues for further research in understanding factors that influence life-threatening illness in African children. (ed.ac.uk)
  • [ 33 ] Findings of circadian rhythm- elated genes support the continued study of these genes in bipolar disorder and lithium response. (medscape.com)
  • Our findings suggest that TERT and POT1 gene variants, along with telomere length, may serve as potential biomarkers and therapeutic targets for NSCLC in this population . (bvsalud.org)
  • A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)
  • ABSTRACT Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant (FVIIc) levels that have been associated with cardiovascular risk. (who.int)
  • Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
  • To investigate the gene frequency of the T235 allele and its relationship with hypertension in two Japanese populations. (lww.com)
  • Working closely with other collaborators active in this field, we aim to identify specific genetic variants that cause this predisposition and to investigate the kinds of biological processes that they take part in. (brookes.ac.uk)
  • The present study aimed to evaluate the genetic associations of select variants within telomere maintenance genes in a population from Jammu and Kashmir, North India , and to investigate the relationship between telomere length and NSCLC risk . (bvsalud.org)
  • Sulfatase modifying factor (SUMF1) is a key modifier in connective tissue remodelling, and we have shown previously that several SNPs in SUMF1 are associated with COPD. (lu.se)
  • Several SNPs in the SUMF1 gene are shown to be associated with COPD and impaired lung function. (lu.se)
  • No single gene or genetic variant is solely responsible for AUD risk. (healthline.com)
  • [ 6 ] This theory suggests that KTWS is produced by a single gene defect lethal in individuals who are homozygous for this gene. (medscape.com)
  • We hypothesize that this germline variant may be involved in development and progression of breast cancer. (aacrjournals.org)
  • These data suggest that the germline Int7G24A variant may represent a risk factor for invasive breast cancer and a marker for breast cancer progression. (aacrjournals.org)
  • The T235 angiotensinogen allele was more common in Japanese than in Caucasians, and was a predisposing factor for hypertension. (lww.com)
  • Prothrombin (factor II) is a vitamin. (msdmanuals.com)
  • The diagnosis is made by genetic analysis of the prothrombin 20210 gene using blood samples. (msdmanuals.com)
  • Geographic distribution of the 20210 G to A prothrombin variant. (msdmanuals.com)
  • Environmental factors cause these variants. (petermac.org)
  • Environmental factors include exposure to elevated levels of radiation. (petermac.org)
  • Presbycusis, or age-related hearing loss, involves genetic and environmental factors. (pasteur.fr)
  • Genetic factors levels vary significantly in the general pop- contribute significantly to the development ulation and are influenced by environmental of these diseases. (who.int)
  • Numerous genetic, acquired, and environmental factors can tip. (msdmanuals.com)
  • There is no doubt that the entity is oligogenetic associated with environmental factors. (bvsalud.org)
  • The prevalence of humans missing one copy of the ATM gene is relatively common, around one to two per cent of the population, says Wells. (sciencedaily.com)
  • [ 7 ] Common AGGF1 variants may confer risk of KTWS. (medscape.com)
  • In vitro studies have suggested that the p.Lys155Gln substitution reduces C3b binding to complement factor H, potentially creating resistance to inhibition by this factor. (nih.gov)
  • Additionally, other research indicates that genetic factors may predispose people to anorexia and other eating disorders . (medicalnewstoday.com)
  • However, the failure to examine the role of many candidate repeat variants in GWAS has been a long-standing complaint of GWAS critics [ 16 ], and the absence of these variants within large GWAS datasets has prevented direct replication attempts of several prominent candidate VNTRs using GWAS data. (nature.com)
  • The genes a person inherits may play an important role in the development of anorexia . (medicalnewstoday.com)
  • Role in viral-induced interferon regulatory factor activation. (microbiologyresearch.org)
  • There are indications that this gene may play a role in cancer as well as in diabetes. (medscape.com)
  • [ 16 ] Potential mechanisms through which TCF7L2 variants influence T2DM include its role in adipogenesis, myogenesis, and pancreatic islet development, as well as in beta-cell survival and insulin secretory granule function. (medscape.com)
  • In our lab, we are trying to identify genetic factors that might play a role in these disorders. (brookes.ac.uk)
  • Although there is strong evidence for the role of a genetic component in language disorder, we do not know which genes contribute to this disorder or how the inheritance of language problems work. (brookes.ac.uk)
  • Many of the genetic variants identified by this study are linked to targets of current antidepressant medications, like serotonin. (mentalfloss.com)
  • There are likely even more gene variants related to depression risk, as well, but they might have too small of an effect to be identified by this study. (mentalfloss.com)
  • Many people of African heritage are protected against malaria by inheriting a particular version of a gene, a large-scale study has shown. (ed.ac.uk)
  • A separate study showed that the Sl2 variant helped prevent clumps of cells called rosettes, found in severe malaria. (ed.ac.uk)
  • This study is a missing piece in the puzzle of how genes protect people against malaria. (ed.ac.uk)
  • We have added several of them to a list of genes worthy of further study for possible involvement in schizophrenia. (nih.gov)
  • Another finding of the study is that there are 500-1,000 genes that affect risk for autism. (wesa.fm)
  • The nice thing about this study is that this is a tool by which we are now going to harvest many more autism genes," said Devlin. (wesa.fm)
  • A large-scale candidate gene association study of age at menarche and age at natural menopause. (atlasgeneticsoncology.org)
  • As per a new study, around a third of the 42 genetic variants identified have been previously linked to general cognitive ability and educational attainment. (livemint.com)
  • This study highlights the crucial interplay between genetic variation in telomere maintenance genes , telomere attrition, and NSCLC risk in the Jammu and Kashmir population of North India . (bvsalud.org)
  • Many of the genes affected downstream contained variants that had been linked to autism spectrum disorder or bipolar disorder , in addition to schizophrenia - consistent with other research suggesting genetic overlap across mental disorders. (nih.gov)
  • The rate of finding these variants in subjects with autism is slightly elevated over what we would expect from the population in general. (wesa.fm)
  • Genes consist of strings of DNA found in our bodies. (petermac.org)
  • This region was later fine-mapped in the Icelandic population and confirmed in US and Danish cohorts, where the risk locus was found to be located in intron 3 of the TCF7L2 gene. (medscape.com)
  • A review of studies from 2020 , which looked at a genome-wide analysis of more than 435,000 people, found 29 different genetic variants that increased the risk of problematic drinking. (healthline.com)
  • Among them, variants at 4q25, located upstream of PITX2 , far exceeded the preset threshold for genome-wide significance and demonstrate strong association with AF in both Europeans and Japanese popupations. (nature.com)
  • The use of state-of-the-art genetic approaches (including transcriptomics, phenomics, epigenomics, whole genome association studies, next generation sequ encing, exome sequencing, & systems biology) to identify and validate (including in vitro models, animal models, & human samples) viral and host genetic factors which influence the pathophysiology of HAND are encouraged. (nih.gov)
  • Recently several reports have cleotide (designated as 0/10 bp) in the pro- focused on the association between the moter region of the gene at position -323 factor VII of the cascade coagulation and [ 13,14 ]. (who.int)
  • The association between the angiogenic factor gene AGGF1 and KTS appears to be significant. (medscape.com)