• The single nucleotide polymorphism (SNP) rs1333049 (C/ G) on chromosome 9p21 has been implicated in previous studies to be associated with CAD. (her2signaling.com)
  • There are several approaches to this problem, including the use of chip based single nucleotide polymorphism (SNP) arrays to interrogate a large number of genes simultaneously, and preselecting candidate genes of interest. (bmj.com)
  • 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)
  • These SNPs, however, are still thought to account for less than half of all genetic susceptibility to IS, with a number of yet to be discovered genes also contributing to the development of IS. (hindawi.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)
  • 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)
  • Through reviewing genetic and epigenetic studies, we identified more than 40 sex-differential candidate genes (13 within known CAD loci) that may explain, at least in part, sex differences in vascular remodeling, lipid metabolism and endothelial dysfunction. (bvsalud.org)
  • Genome-wide association studies (GWAS) identified 346 loci near 495 genes associated with WHRadjBMI. (bvsalud.org)
  • This leads to transcriptional de-repression of PRC1-target genes and mitotic chromosome segregation errors. (escholarship.org)
  • 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)
  • 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)
  • Recent genome-wide association studies have revealed strong associations between the CDKN2A/B locus and T2D risk. (diabetesjournals.org)
  • Recent studies by the IGAP consortium have identified over 27 new susceptibility loci for AD. (cardiff.ac.uk)
  • These similarities point towards the possibility that both diseases have common underlying pathogenic mechanisms, modulated by shared genetic susceptibility loci. (biomedcentral.com)
  • 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)
  • 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)
  • Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke. (nature.com)
  • We analyzed our cohort consisting of patients suffering from the most severe form of AgP, generalized AgP (gAgP) (n = 130) and appropriate periodontally healthy control individuals (n = 339) by genotyping four tagging SNPs (rs2891168, rs1333042, rs1333048 and rs496892), located in the chromosomal region 9p21.3 , that have been associated with AgP. (biomedcentral.com)
  • All studies reported a strong association of a region of elevated linkage disequilibrium (LD) on human chromosome 9p21.3 with CHD. (biomedcentral.com)
  • Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke. (nature.com)
  • 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)
  • The aim of this study was to evaluate the relationship between this SNP and gout pathogenesis. (her2signaling.com)
  • 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)
  • To estimate the genome-wide pattern of mutations at STR loci, we analyze blood-derived whole-genome sequencing data for 544 individuals from 29 three-generation CEPH pedigrees. (biomedcentral.com)
  • Typically, only 13 loci are needed to have high statistical power to distinguish among individuals [ 17 ]. (biomedcentral.com)
  • 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)
  • Figure 3: Genetic heterogeneity of different stroke subtypes for the four loci with significant associations. (nature.com)
  • 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)
  • According to these results, the most plausible genetic model for the association of all four tested SNPs with gAgP seems to be the multiplicative one. (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)
  • We replicated previous associations for cardioembolic stroke near PITX2 and ZFHX3 and for large vessel stroke at a 9p21 locus. (nature.com)
  • 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)
  • Here we show that missegregation of mitotic chromosomes, their sequestration in micronuclei 5,6 and subsequent rupture of the micronuclear envelope 7 profoundly disrupt normal histone post-translational modifications (PTMs), a phenomenon conserved across humans and mice, as well as in cancer and non-transformed cells. (escholarship.org)
  • The results confirmed significant associations between three of the four SNPs and gAgP. (biomedcentral.com)
  • Figure 1: Genome-wide association results at autosomal SNPs in combined UK and German discovery samples. (nature.com)
  • The combination of our results with those from the study which described this association for the first time in a meta-analysis of the four tagging SNPs produced clearly lower p-values compared with the results of each individual study. (biomedcentral.com)
  • Improving our understanding of these mutations would increase our knowledge of the mutational dynamics of the genome and may uncover additional loci that contribute to disease. (biomedcentral.com)
  • Single nucleotide polymorphisms (SNPs) which alter the expression of CDKN2B-AS are associated with human healthy life expectancy, as well as with multiple diseases, including coronary artery disease, diabetes and many cancers. (wikipedia.org)
  • Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
  • Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.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)
  • Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL) was found in PBTL of individuals harboring a common SNP (rs10757278) associated with increased risk of coronary artery disease, stroke and aortic aneurysm. (nih.gov)
  • PMID 18048766 ] This SNP was also associated with increased risk for coronary artery disease in a Korean population. (snpedia.com)
  • Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. (snpedia.com)
  • Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. (snpedia.com)
  • Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetes. (snpedia.com)
  • The 9p21 susceptibility locus for coronary artery disease and the severity of coronary atherosclerosis. (snpedia.com)
  • Association of variation in the chromosome 9p21 locus with myocardial infarction versus chronic coronary artery disease. (snpedia.com)
  • Single nucleotide polymorphisms (SNPs) which alter the expression of CDKN2B-AS are associated with human healthy life expectancy, as well as with multiple diseases, including coronary artery disease, diabetes and many cancers. (wikipedia.org)
  • A) polymorphism at 9p21.3 locus with the occurrence and severity of coronary artery disease in an Iranian population. (cdc.gov)
  • The SNP rs7865618 of 9p21.3 locus emerges as the most promising marker of coronary artery disease in the southern Indian population. (cdc.gov)
  • Association Study Between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population. (cdc.gov)
  • Recent genome-wide association studies (GWASs) on coronary artery disease (CAD) and MI implicated chromosome 9 on p21.3 locus in increasing susceptibility to MI [ 12 ]. (biomedcentral.com)
  • Genome-wide association studies (GWAS) have linked common single nucleotide polymorphisms (SNPs) on chromosome 9p21 near the INK4/ARF (CDKN2A/B) tumor suppressor locus with risk of atherosclerotic diseases and type 2 diabetes mellitus. (nih.gov)
  • The Genome-Wide Association Study (GWAS) approach has proven quite fruitful, identifying multiple SNPs for numerous common diseases that have been confirmed in independent samples, indicating that such findings are genuine novel associations. (medscape.com)
  • About 68% of associated SNPs in GWAS are in or near a protein-coding gene, implicating the nearby gene(s) in the disease association, but the remaining associated SNPs are quite distant from any known protein-coding gene. (medscape.com)
  • Among the first major discoveries for any disease using a GWAS approach was the report from two groups, led by McPherson and colleagues (2007) and Helgadottir and colleagues (2007), of the same locus on 9p21 that is strongly associated with MI. (medscape.com)
  • The CAD association with 9p21 represents one of the most consistent and robust SNP-disease associations in the GWAS era, having been replicated in several independent samples in numerous ethnicities including European, Korean, and Japanese populations. (medscape.com)
  • As a consequence of differing SNP panels among genotyping chips, imputation is the method of choice within GWAS consortia to avoid losing too many SNPs in a MA. (biomedcentral.com)
  • Therefore, imputation is used to unify the available marker panels of GWAS and to avoid loss of SNPs that are present in one study but not in another. (biomedcentral.com)
  • GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. (sun.ac.za)
  • This SNP alone accounted for 21% of the population attributable fraction and was independent of traditional risk factors, myocardial infarction risk, and the extent of disease. (snpedia.com)
  • Little is known about alterations of cyclin dependent kinase inhibitors p15INK4B, p16INK4A and of MDM2 inhibitor p14ARF due to single nucleotide polymorphisms (SNPs) located within the CDKN2A/B genes and/or neighbouring loci. (nih.gov)
  • 7. A genetic variant in CDKN2A/2B locus was associated with poor prognosis in patients with esophageal squamous cell carcinoma. (nih.gov)
  • To explore the mechanism of this association, we investigated whether expression of proximate transcripts (p16(INK4a), p15(INK4b), ARF, ANRIL and MTAP) correlate with genotype of representative 9p21 SNPs.We analyzed expression of 9p21 transcripts in purified peripheral blood T-cells (PBTL) from 170 healthy donors. (nih.gov)
  • Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. (snpedia.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)
  • 14. Chromosome 9p21 primary open-angle glaucoma susceptibility locus: a review. (nih.gov)
  • Disease-associated polymorphisms in 9p21 are not associated with extreme longevity. (cdc.gov)
  • No association of any these transcripts was noted with five other tested 9p21 SNPs.Genotypes of rs10757278 linked to increased risk of atherosclerotic diseases are also associated with decreased expression in PBTL of the INK4/ARF locus, which encodes three related anti-proliferative transcripts of known importance in tumor suppression and aging. (nih.gov)
  • This SNP, rs10757278 , is one of several clustered together in a region of chromosome 9 that has been linked to increased risk for heart disease and potentially diabetes . (snpedia.com)
  • We aimed to evaluate the association of chromosome 9p21 single nucleotide polymorphisms (SNPs): rs2383207, rs10757278, and rs10757274 with the risk and severity of CAD among Arab population. (edu.qa)
  • All subjects were genotyped for SNPs (rs2383207, rs2383206, rs10757274 and rs10757278) using allele-specific real-time polymerase chain reaction. (edu.qa)
  • The other SNPs (rs10757274 and rs10757278) showed no significant association with the risk of CAD or its severity. (edu.qa)
  • Conclusion: Among Arab population in Qatar, only G allele of rs2483207 SNP is significantly associated with risk of CAD and its severity. (edu.qa)
  • Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. (snpedia.com)
  • Single nucleotide polymorphisms (SNPs) in the peroxisome proliferator-activated receptor ( PPARG ) gene have been associated with cardiovascular risk factors, particularly obesity and diabetes. (hindawi.com)
  • Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest). (snpedia.com)
  • Two other SNPs in this region with similar reports are rs10757274 and rs2383206 . (snpedia.com)
  • Because of these correlations, a limited number of SNPs (500,000 to 1,000,000) describe the majority of common genetic variation in human populations. (medscape.com)
  • Samples were genotyped for six selected disease-related SNPs spanning the INK4/ARF locus. (nih.gov)
  • We aimed to investigate whether there is an association between the cyclin-dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1) rs1333049 and zinc finger homeobox 3 (ZFHX3) rs2106261 single nucleotide polymorphisms (SNPs) and the degree of COVID-19 severity. (biomedcentral.com)
  • PMID 18757290 ] Associations between single nucleotide polymorphisms on chromosome 9p21 and risk of coronary heart disease in Chinese Han population. (snpedia.com)
  • Recently, single nucleotide polymorphisms (SNP) were found as another, in this case inherited, factor that can have an impact on a patient´s prognosis and treatment response. (csnn.eu)
  • A genetic variant on chromosome 9p21 and incident heart failure in the ARIC study. (snpedia.com)
  • Also, 152 healthy volunteers were studied to determine if SNPs are associated with risk of CAD. (edu.qa)
  • 1. Genetic polymorphisms in the 9p21 region associated with risk of multiple cancers. (nih.gov)
  • Altogether, these observations suggest that genetic variability at the PPARG locus could affect cardiovascular risk. (hindawi.com)
  • Therefore, the goal of the present study was to explore the association between 4 PPARG SNPs, including the Pro12Ala SNP, and CHD risk in two independent studies among white subjects. (hindawi.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)
  • The results confirmed significant associations between three of the four SNPs and gAgP. (biomedcentral.com)
  • Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. (sun.ac.za)
  • A genome-wide association strategy consists of determining whether a disease is statistically associated with any of the ~500,000 SNPs tested. (medscape.com)
  • 10. Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma. (nih.gov)
  • MA is conducted by combining association effect estimates of a SNP and those of its proxy-SNPs. (biomedcentral.com)
  • Early studies analyzed the association between the PPARG Pro12Ala SNP and coronary heart disease (CHD) in cohorts from North America. (hindawi.com)
  • The combination of our results with those from the study which described this association for the first time in a meta-analysis of the four tagging SNPs produced clearly lower p-values compared with the results of each individual study. (biomedcentral.com)
  • According to these results, the most plausible genetic model for the association of all four tested SNPs with gAgP seems to be the multiplicative one. (biomedcentral.com)
  • Prior investigations have analyzed the relationship between common PPARG SNPs and various metabolic disorders. (hindawi.com)
  • These similarities point towards the possibility that both diseases have common underlying pathogenic mechanisms, modulated by shared genetic susceptibility loci. (biomedcentral.com)
  • For example, the main marker of the conventional RC is the loss of the short (p) arm of chromosome 3, eventually the gain of chromosome 5q along with the deletion of some of chromosomes 6q, 8p. (biopticka.cz)
  • SNPs located in proximity to each other are highly correlated (are in "linkage disequilibrium") and are transmitted together through successive generations on small segments of chromosomes known as haplotypes. (medscape.com)
  • YAMAS is an efficient and fast meta-analysis program which offers various methods, including conventional MA as well as inserting proxy-SNPs for missing markers to avoid unnecessary power loss. (biomedcentral.com)
  • For the analysis of LOH when investigating the state of chromosomes 1 and 3, we use microsatellite markers D1S1656 (1q), D3S1300 (3p) and D3S1768 (3p). (biopticka.cz)
  • We assessed the relationship between 4 PPARG SNPs (C-681G, C-689T, Pro12Ala, and C1431T) and coronary heart disease (CHD) in the PRIME (249 cases/494 controls, only men) and ADVANCE (1,076 cases/805 controls, men or women) studies. (hindawi.com)
  • Works based on molecular genetic and cytogenetic data, constitute the classification of each RC type according to changes in the number of individual parts or whole chromosomes. (biopticka.cz)
  • Here we present a fast method to avoid forfeiting SNPs present in only a subset of studies, without relying on imputation. (biomedcentral.com)