rs1412829

This is a intron variant variant in the CDKN2B-AS1 gene.

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Research that mentions this SNP (4)

Genome-wide association study and meta-analysis of intraocular pressure
Meta-analysisN=6,236Ozel AB et al.(2014)· Human Genetics

Genome-wide association study and meta-analysis of intraocular pressure (IOP) in 6,236 European ancestry subjects from three cohorts (NEIGHBOR, GLAUGEN, AMD-MMAP MI). Meta-analysis identified a significant association at TMCO1 (rs7518099-G, beta = 0.76 mmHg/allele, p = 8.0 × 10−8). The study replicated previously reported associations at TMCO1, CDKN2B-AS1, GAS7, CAV1/CAV2, and SIX1/SIX6 loci with consistent effect sizes and directions. Results show gender-specific effects and age-dependent trends for IOP association with common variants.

Traits studied:Intraocular pressurePrimary open-angle glaucoma
Genome-wide association study of glioma and meta-analysis
AssociationN=6,811Rajaraman P. et al.(2012)· Human Genetics

Genome-wide association study of glioma in 1,856 cases and 4,955 controls that confirmed seven previously reported susceptibility loci. Strong replication was found for rs2736100 (TERT, OR=0.72), rs4977756 (CDKN2BAS, OR=1.35), and rs6010620 (RTEL1, OR=0.66). Consistent associations were observed for loci at EGFR, CCDC26, and PHLDB1. Meta-analysis of 85 candidate loci in 5,015 cases and 11,601 controls identified no novel genome-wide significant associations, suggesting glioma genetic architecture may involve fewer common variants than other cancers.

Traits studied:GlioblastomaGliomaHigh-grade gliomaLow-grade gliomaOligodendroglioma
Genome‐wide association study of theta band event‐related oscillations identifies serotonin receptor geneHTR7influencing risk of alcohol dependence
AssociationN=2,159Mark Zlojutro et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This genome-wide association study identified four genes influencing theta band event-related oscillations, a heritable neuroelectrical trait associated with alcohol dependence. The strongest association for alcohol dependence risk was rs7916403 in serotonin receptor gene HTR7 on chromosome 10q23 (combined P = 1.53 × 10⁻⁴), with a recessive effect (OR = 1.32–1.37, P = 0.031–0.042). Other significant markers included rs4907240 in ARID5A (P = 3.68 × 10⁻⁶), rs13831 in GNAS1, and non-synonymous rs2294015 in ANXA13.

Traits studied:Alcohol dependenceTheta band event-related oscillations
New Insights Into Susceptibility to Glioma
ReviewYanhong Liu et al.(2010)· Archives of Neurology

This review discusses recent genome-wide association studies (GWAS) that identified five susceptibility loci for glioma: TERT rs2736100 (OR=1.27), CCDC26 rs4295627 (OR=1.36), CDKN2A/CDKN2B rs4977756 (OR=1.24), RTEL1 rs6010620 (OR=1.18), and PHLDB1 rs498872 (OR=1.28). The combined effect shows that individuals with 8 or more risk alleles have over 3-fold increased glioma risk compared to those with median alleles (OR=1.31 per allele, p=1.39×10^-74). These common low-risk variants represent the strongest evidence to date for inherited susceptibility to glioma, with shared associations across multiple cancer types.

Traits studied:Anaplastic astrocytomaBasal cell carcinomaBladder cancerBreast cancerCervical cancerColorectal cancerGlioblastoma multiformeGliomaHigh-grade gliomaLung cancerMelanomaNeuroblastomaProstate cancerSystemic lupus erythematosus

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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