LongevityMap Gene

Gene details

HGNC symbol
CDKN2B-AS1 
Aliases
ANRIL; p15AS; PCAT12; CDKN2BAS; CDKN2B-AS; NCRNA00089 
Common name
CDKN2B antisense RNA 1 
Description
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]
Cytogenetic Location
9p21.3
UCSC Genome Browser
View 9p21.3 on the UCSC genome browser
OMIM
613149
Ensembl
ENSG00000240498
UniProt/Swiss-Prot
Entrez Gene
100048912
UniGene
493614
1000 Genomes
1000 Genomes

Homologs in model organisms

No homologs found

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association
Non-significant
Population
Dutch
Study Design
A set of alleles associated with age-related diseases was tested for association with human longevity in 723 nonagenarian siblings and 721 unrelated younger controls plus 979 singleton individuals >85 years of age and 1,167 younger controls
Conclusions
No differences were observed in disease risk allele frequency between long-lived individuals and controls. No individual allele was significantly associated with survival to old age after controlling for multiple testing.
Indentifier
rs564398
Reference

    Study 2

    Longevity Association
    Significant
    Population
    American (Caucasian)
    Study Design
    Genome-wide association study in 801 centenarians and 914 healthy controls
    Conclusions
    281 SNPs were found to discriminate between cases and controls
    Indentifier
    rs4977756
    Reference