CDKN2B-AS1

General Information

Full gene name:CDKN2B antisense RNA 1 (non-protein coding) Entrez Gene ID:100048912 Location:9p21.3 Synonyms:CDKN2BAS, ANRIL, CDKN2B-AS, NCRNA00089, RP11-145E5.4, p15AS Type:miscRNA

User SNPs

SNPs given by the user that are near or inside this gene:

SNP	Distance (bp)	Direction
rs10811661	13001	downstream

NCBI Summary

This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21 locus, which is the strongest genetic susceptibility locus for cardiovascular diseases, and also linked to several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer’s disease, endometriosis, frailty in the elderly, and glaucoma. Many disease-associated single-nucleotide polymorphisms in this locus affect the structure and expression of this gene, suggesting that modulation of this gene expression mediates disease susceptibility. This gene interacts with both polycomb repressive complex-1 (PRC1) and -2 (PRC2), and may function as a regulator for epigenetic transcriptional repression. Multiple alternatively spliced transcript variants have been generated from this gene, and all of them are long non-coding RNAs. It has been found that some of splice variants are tissue specific, and different splice variants may have distinct roles in cell physiology. [provided by RefSeq, Jun 2012]

OMIM

No OMIM data available for this gene.

NCBI Phenotypes

• A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
• Genome-wide association study identifies five new breast cancer susceptibility loci.
• Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.
• A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese.
• Genome-wide association study of intracranial aneurysm identifies three new risk loci.
• Genome-wide association study of coronary artery disease in the Japanese.
• Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.
• Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
• Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
• Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
• Susceptibility loci for intracranial aneurysm in European and Japanese populations.
• Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese.
• Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
• A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
• Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
• Chromosome 7p11.2 (EGFR) variation influences glioma risk.
• Genome-wide association study identifies five susceptibility loci for glioma.
• A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
• NHGRI GWA Catalog
• Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
• Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.

Gene Ontology

No GO terms found linked to this gene.

KEGG Pathways

No pathways found linked to this gene.

GeneRIFs

• Observational study of gene-disease association. (HuGE Navigator) [PMID 20574843]
• ANRIL on 9p21 and BRAP were both associated with ankle brachial index in a Taiwanese population. [PMID 22122968]
• CDKN2A CDKN2B and ANRIL is the susceptibility locus for coronary heart disease (CHD) and periodontitis. [PMID 19214202]
• Results indicate that co-regulation of ANRIL and p14ARF could be coupled by their unique intergenic region potentially through E2F1. [PMID 20664976]
• Suggest that several atherosclerosis-associated SNPs in the 9p21 locus affect the expression of ANRIL, which, in turn modulate cell growth, possibly via CDKN2A/B regulation. [PMID 22178423]
• ANRIL splicing variants play a role in coordinating tissue remodeling, by modulating the expression of genes involved in cell proliferation, apoptosis, extra-cellular matrix remodeling and inflammatory response to finally impact in the risk of cardiova... [PMID 22382030]
• Data show that chromobox 7 (CBX7) within the polycomb repressive complex 1 binds to ANRIL, and both CBX7 and ANRIL are found at elevated levels in prostate cancer tissues. [PMID 20541999]
• results suggest a model in which ANRIL binds to and recruits PRC2 to repress the expression of p15(INK4B) locus [PMID 21151178]
• ANRIL splice variants have a role in cardiovascular disease [PMID 19888323]
• study suggests that modulation of ANRIL expression mediates susceptibility to several important human diseases. [PMID 20386740]
• We report a genome-wide association study for open-angle glaucoma (OAG) blindness showing an association at cdkn2b locus [PMID 21532571]
• genome wide association study identified association of endometriosis with rs10965235 which is located in CDKN2BAS; SNP showing strongest association was located in intron 16 of CDKN2BAS and was implicated in regulating expression of p15, p16 and p14 [PMID 20601957]
• Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) [PMID 20601957]
• in neurofibromatosis type 1(NF1)-associated plexiform neurofibromas(PNFs),rs2151280 was associated with number of PNFs in NF1; allele T associated with reduced ANRIL transcript levels suggesting modulation of ANRIL expression mediates PNF susceptibility [PMID 22034633]

PubMed Articles

Recent articles:

• Guil S et al. “Intronic RNAs mediate EZH2 regulation of epigenetic targets.” Nat Struct Mol Biol. 2012 Jun 3;19(7):664-70. PMID 22659877
• Low SK et al. “Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.” Hum Mol Genet. 2012 May 1;21(9):2102-10. PMID 22286173
• Wiggs JL et al. “Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.” PLoS Genet. 2012;8(4):e1002654. PMID 22570617
• Congrains A et al. “CVD-associated non-coding RNA, ANRIL, modulates expression of atherogenic pathways in VSMC.” Biochem Biophys Res Commun. 2012 Mar 23;419(4):612-6. PMID 22382030
• Nakano M et al. “Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese.” PLoS One. 2012;7(3):e33389. PMID 22428042
• Murabito JM et al. “Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.” Circ Cardiovasc Genet. 2012 Feb 1;5(1):100-12. PMID 22199011
• Congrains A et al. “Genetic variants at the 9p21 locus contribute to atherosclerosis through modulation of ANRIL and CDKN2A/B.” Atherosclerosis. 2012 Feb;220(2):449-55. PMID 22178423
• Holdt LM et al. “Recent studies of the human chromosome 9p21 locus, which is associated with atherosclerosis in human populations.” Arterioscler Thromb Vasc Biol. 2012 Feb;32(2):196-206. PMID 22258902
• Tsai PC et al. “Additive effect of ANRIL and BRAP polymorphisms on ankle-brachial index in a Taiwanese population.” Circ J. 2012;76(2):446-52. PMID 22122968
• Pasmant E et al. “Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.” J Natl Cancer Inst. 2011 Nov 16;103(22):1713-22. PMID 22034633

Top Pubmed articles linked to gene CDKN2B-AS1 matching any search term:

• Congrains A et al. “CVD-associated non-coding RNA, ANRIL, modulates expression of atherogenic pathways in VSMC.” Biochem Biophys Res Commun. 2012 Mar 23;419(4):612-6. PMID 22382030
• Harismendy O et al. “9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response.” Nature. 2011 Feb 10;470(7333):264-8. PMID 21307941
• Pasmant E et al. “ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS.” FASEB J. 2011 Feb;25(2):444-8. PMID 20956613
• Popov N et al. “Epigenetic regulation of the INK4b-ARF-INK4a locus: in sickness and in health.” Epigenetics. 2010 Nov-Dec;5(8):685-90. PMID 20716961
• Gretarsdottir S et al. “Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.” Nat Genet. 2010 Aug;42(8):692-7. PMID 20622881
• Cunnington MS et al. “Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.” PLoS Genet. 2010 Apr 8;6(4):e1000899. PMID 20386740
• Liu Y et al. “INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis.” PLoS One. 2009;4(4):e5027. PMID 19343170
• Schaefer AS et al. “Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis.” PLoS Genet. 2009 Feb;5(2):e1000378. PMID 19214202
• Broadbent HM et al. “Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p.” Hum Mol Genet. 2008 Mar 15;17(6):806-14. PMID 18048406
• McPherson R et al. “A common allele on chromosome 9 associated with coronary heart disease.” Science. 2007 Jun 8;316(5830):1488-91. PMID 17478681
• Zeggini E et al. “Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.” Science. 2007 Jun 1;316(5829):1336-41. PMID 17463249