rs4977574
This is a intron variant variant in the CDKN2B-AS1 gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
▶Research that mentions this SNP (3)
▶Dietary patterns interact with chromosome 9p21 rs1333048 polymorphism on the risk of obesity and cardiovascular risk factors in apparently healthy Tehrani adultsAssociationN=265Mehdi Mollahosseini et al.(2020)· European Journal of Nutrition
This cross-sectional study of 265 healthy Tehrani adults examined interactions between the rs1333048 polymorphism on chromosome 9p21 and dietary patterns on obesity risk. The AA genotype of rs1333048 was associated with increased odds of general obesity (OR 3.11, p=0.048) and central obesity (OR 2.63, p=0.026). Significant gene-diet interactions were observed between legumes dietary pattern and rs1333048 on waist circumference (p=0.047), body fat percentage (p=0.048), BMI (p=0.073), waist-to-height ratio (p=0.063), and C-reactive protein (p=0.042).
▶A Genetic Variant in the Seed Region of miR-4513 Shows Pleiotropic Effects on Lipid and Glucose Homeostasis, Blood Pressure, and Coronary Artery DiseaseReviewMohsen Ghanbari et al.(2014)· Human Mutation
A comprehensive review of long non-coding RNA (lncRNA) genetic variants identified by GWAS studies in cardiometabolic diseases including coronary artery disease, myocardial infarction, type 2 diabetes, and blood pressure traits. The review highlights key lncRNA loci such as CDKN2B-AS1/ANRIL at 9p21.3 (rs10757278, rs2891168), MIAT (rs4977574, rs10811661), H19 (rs217727), LOC157273 (rs9987289, rs4841132), KCNQ1OT1 (rs231362), and LINC00243 (rs886424), discussing mechanisms of how genetic variants in non-coding RNA regions influence cardiovascular and metabolic disease risk.
▶Investigation of genetic risk factors for chronic adult diseases for association with preterm birthAssociationN=1,792Nadia Falah et al.(2013)· Human Genetics
Case-control study of 673 preterm birth (PTB) cases vs 1,119 controls across four maternal cohorts testing 35 SNPs in cardiovascular, inflammatory, and metabolic disease genes. Found 13 statistically significant associations with PTB (P<0.05), more than expected by chance (binomial P=0.02). Most significant was HLA-DQA1 rs9272346 G allele protective effect in US White mothers (P=0.02, OR=0.65, 95% CI 0.46-0.94), which nominally replicated in Danish cohort (P=0.02, OR=0.85, 95% CI 0.75-0.97) but lost significance after correction for multiple testing.
About CDKN2B-AS1
This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]
View all CDKN2B-AS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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