CDKN2B Antisense RNA

Alternative Names

  • CDKN2BAS
  • CDKN2B-AS1
  • Antisense Noncoding RNA in the INK4 Locus
  • ANRIL
Back to search Result
OMIM Number

613149

NCBI Gene ID

100048912

Length

126,307 bases

No. of Exons

21

Genomic Location

chr9:21,994,790-22,121,096

Gene Map Locus
9p21.3

Description

The CDKN2BAS gene is located near the CDKN2A-CDKN2B gene and codes for an antisense non-coding RNA.  Although the exact function of this gene and the ncRNA it codes for is unknown, there is evidence pointing to the fact that it may regulate the expression of nearby protein coding genes, including CDKN2A, CDKN2B, and ARF.  Functionally, this regulation may come about through its interaction with Polycomb Repressive Complex-1 (PRC1) and -2 (PRC2), resulting in epigenetic silencing of other genes in this cluster. The gene is expressed in a range of tissue types, including vascular endothelial cells and smooth coronary muscle cells.

This region, at chromosome 9p21, is a significant genetic susceptibility locus for cardiovascular disease, several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NR_003529.3:n.2449-316A>GUnited Arab EmiratesNC_000009.12:g.22096056A>GRisk factorLikely BenignType 2 Diabetes MellitusNR_003529.3:n.2449-316A>G10757274812640
NR_003529.3:n.2698+1211A>GLebanon; United Arab E...NC_000009.12:g.22098575A>GRisk factorAssociation, Likely BenignType 2 Diabetes Mellitus; Myocardial Infarction, Susceptibility to, 1NR_003529.3:n.2698+1211A>G4977574812644
NR_003529.3:n.2908+1228A>GUnited Arab EmiratesNC_000009.12:g.22115027A>GLikely BenignType 2 Diabetes MellitusNR_003529.3:n.2908+1228A>G2383206

Other Reports

Saudi Arabia

Abdulazeez et al. (2016) performed a case-control study in order to investigate the association of 12 risk variants located at 9p21.3 with myocardial infarction (MI) in Saudi Arabian population.  The study included 250 Saudi patients with CAD who had experienced an MI and 252 age matched healthy controls with no history of CAD.  Results showed a significant difference in the genotypic distribution of four SNPs (rs564398, rs4977574, rs2891168, and rs1333042) in the CDKN2B-AS1 gene between cases and controls.  The study identified three protective haplotypes (TAAG, AGTA and GGGCC) and a risk haplotype (TGGA) for the development of CAD.  This study was in line with previous studies conducted worldwide indicating that the SNPs located in the intronic region of the CDKN2B-AS1 gene were associated with CAD.

© CAGS 2024. All rights reserved.