Gene Symbol: CDKN2B
Description: cyclin dependent kinase inhibitor 2B
Alias: CDK4I, INK4B, MTS2, P15, TP15, p15INK4b, cyclin-dependent kinase 4 inhibitor B, CDK inhibitory protein, CDK4B inhibitor, MTS-2, cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4), cyclin-dependent kinases 4 and 6 binding protein, multiple tumor suppressor 2, p14-INK4b, p14_CDK inhibitor, p14_INK4B, p15 CDK inhibitor, p15-INK4b, p15_INK4B
Species: human
Products:     CDKN2B

Top Publications

  1. Cauchi S, Proenca C, Choquet H, Gaget S, De Graeve F, Marre M, et al. Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study. J Mol Med (Berl). 2008;86:341-8 pubmed publisher
    ..E.S.I.R. prospective cohort. However, in contrast to TCF7L2, the contribution of novel loci to T2D incidence seems only modest in the general middle-aged French population and should be replicated in larger cohorts. ..
  2. Horikawa Y, Miyake K, Yasuda K, Enya M, Hirota Y, Yamagata K, et al. Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan. J Clin Endocrinol Metab. 2008;93:3136-41 pubmed publisher
    ..groups have recently identified novel type 2 diabetes susceptibility genes, including FTO, SLC30A8, HHEX, CDKAL1, CDKN2B, and IGF2BP2, none of which were in the list of functional candidates...
  3. Paul T, Bies J, Small D, Wolff L. Signatures of polycomb repression and reduced H3K4 trimethylation are associated with p15INK4b DNA methylation in AML. Blood. 2010;115:3098-108 pubmed publisher
    DNA hypermethylation of the p15INK4b tumor suppressor gene is commonly observed in acute myeloid leukemia (AML)...
  4. Cho Y, Kim T, Lim S, Choi S, Shin H, Lee H, et al. Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population. Diabetologia. 2009;52:253-61 pubmed publisher
    ..SNPs) rs7756992 and rs7754840 in CDKAL1; rs564398, rs1333040, rs10757278 and rs10811661 in the CDKN2A-CDKN2B region; rs8050136 in FTO; rs1111875, rs5015480 and rs7923837 in HHEX; rs4402960 in IGF2BP2; and rs13266634 in ..
  5. Shete S, Hosking F, Robertson L, Dobbins S, Sanson M, Malmer B, et al. Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet. 2009;41:899-904 pubmed publisher
    ..50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1...
  6. McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox D, et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007;316:1488-91 pubmed
    ..This interval, which is located near the CDKN2A and CDKN2B genes, contains no annotated genes and is not associated with established CHD risk factors such as plasma ..
  7. Freathy R, Bennett A, Ring S, Shields B, Groves C, Timpson N, et al. Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes. 2009;58:1428-33 pubmed publisher
    ..Our results are in keeping with the fetal insulin hypothesis and provide robust evidence that common disease-associated variants can alter size at birth directly through the fetal genotype. ..
  8. Wanzel M, Kleine Kohlbrecher D, Herold S, Hock A, Berns K, Park J, et al. Akt and 14-3-3eta regulate Miz1 to control cell-cycle arrest after DNA damage. Nat Cell Biol. 2005;7:30-41 pubmed
  9. Grarup N, Rose C, Andersson E, Andersen G, Nielsen A, Albrechtsen A, et al. Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies. Diabetes. 2007;56:3105-11 pubmed publisher

More Information


  1. Ohsaka Y, Yogosawa S, Nakanishi R, Sakai T, Nishino H. Polymorphisms in promoter sequences of the p15 ( INK4B ) and PTEN genes of normal Japanese individuals. Biochem Genet. 2010;48:970-86 pubmed publisher
    Gene promoter regions of p15(INK4B), a cyclin-dependent kinase inhibitor, and phosphatase and tensin homolog (PTEN), a dual-function protein and lipid phosphatase, interact with regulatory factors for gene transcription and methylation...
  2. Okamoto A, Hussain S, Hagiwara K, Spillare E, Rusin M, Demetrick D, et al. Mutations in the p16INK4/MTS1/CDKN2, p15INK4B/MTS2, and p18 genes in primary and metastatic lung cancer. Cancer Res. 1995;55:1448-51 pubmed
    We examined the genomic status of cyclin-dependent kinase-4 and -6 inhibitors, p16INK4,p15INK4B, and p18, in 40 primary lung cancers and 31 metastatic lung cancers...
  3. Stacey S, Sulem P, Masson G, Gudjonsson S, Thorleifsson G, Jakobsdottir M, et al. New common variants affecting susceptibility to basal cell carcinoma. Nat Genet. 2009;41:909-14 pubmed publisher
    ..35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6...
  4. Bilguvar K, Yasuno K, Niemela M, Ruigrok Y, von und zu Fraunberg M, van Duijn C, et al. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet. 2008;40:1472-7 pubmed publisher
    ..These findings have implications for the pathophysiology, diagnosis and therapy of intracranial aneurysm. ..
  5. Zeggini E, Weedon M, Lindgren C, Frayling T, Elliott K, Lango H, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science. 2007;316:1336-41 pubmed
    ..We detected diabetes susceptibility loci in and around the genes CDKAL1, CDKN2A/CDKN2B, and IGF2BP2 and confirmed the recently described associations at HHEX/IDE and SLC30A8...
  6. Meigs J, Shrader P, Sullivan L, McAteer J, Fox C, Dupuis J, et al. Genotype score in addition to common risk factors for prediction of type 2 diabetes. N Engl J Med. 2008;359:2208-19 pubmed publisher
    ..A genotype score based on 18 risk alleles predicted new cases of diabetes in the community but provided only a slightly better prediction of risk than knowledge of common risk factors alone. ..
  7. Basu S, Liu Q, Qiu Y, Dong F. Gfi-1 represses CDKN2B encoding p15INK4B through interaction with Miz-1. Proc Natl Acad Sci U S A. 2009;106:1433-8 pubmed publisher
    ..We report here an alternative mechanism by which Gfi-1 represses CDKN2B encoding p15(INK4B)...
  8. Pascoe L, Frayling T, Weedon M, Mari A, Tura A, Ferrannini E, et al. Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk alleles. Diabetologia. 2008;51:1989-92 pubmed publisher
    ..001 and p = 0.003, respectively). This study shows how individual type 2 diabetes-risk alleles combine in an additive manner to impact upon pancreatic beta cell function in non-diabetic individuals. ..
  9. Herder C, Rathmann W, Strassburger K, Finner H, Grallert H, Huth C, et al. Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies. Horm Metab Res. 2008;40:722-6 pubmed publisher
    ..We conclude that gene variants of CDKAL1, PPARG, IGF2BP2, HHEX, TCF7L2, and FTO predispose to type 2 diabetes in the German KORA 500 K study population. These associations appear to be independent of BMI. ..
  10. Hannon G, Beach D. p15INK4B is a potential effector of TGF-beta-induced cell cycle arrest. Nature. 1994;371:257-61 pubmed
    ..2), which are inhibited by the protein p16INK4. We have isolated a new member of the p16INK4 family, p15INK4B. p15 expression is induced approximately 30-fold in human keratinocytes by treatment with TGF-beta, suggesting ..
  11. Lango H, Palmer C, Morris A, Zeggini E, Hattersley A, McCarthy M, et al. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes. 2008;57:3129-35 pubmed publisher
    ..Further studies are needed to assess whether individuals with extreme numbers of risk alleles may benefit from genetic testing. ..
  12. Wahlstrand B, Orho Melander M, Delling L, Kjeldsen S, Narkiewicz K, Almgren P, et al. The myocardial infarction associated CDKN2A/CDKN2B locus on chromosome 9p21 is associated with stroke independently of coronary events in patients with hypertension. J Hypertens. 2009;27:769-73 pubmed publisher
    ..Genetic variation at the CDKN2A/CDKN2B locus predicts stroke in hypertensive patients...
  13. Cornelis M, Qi L, Zhang C, Kraft P, Manson J, Cai T, et al. Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry. Ann Intern Med. 2009;150:541-50 pubmed
    ..National Institutes of Health. ..
  14. Stanganelli C, Arbelbide J, Fantl D, Corrado C, Slavutsky I. DNA methylation analysis of tumor suppressor genes in monoclonal gammopathy of undetermined significance. Ann Hematol. 2010;89:191-9 pubmed publisher
    ..We have analyzed methylation status of p15 INK4B , p16 INK4A , ARF, SOCS-1, p27 KIP1 , RASSF1A, and TP73 genes in bone marrow DNA samples from 21 MGUS and 44 MM ..
  15. Hu C, Zhang R, Wang C, Wang J, Ma X, Lu J, et al. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. PLoS ONE. 2009;4:e7643 pubmed publisher
    ..We confirmed the effects of SNPs from PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 on risk for type 2 diabetes, with odds ratios ranging from 1.114 to 1...
  16. Congrains A, Kamide K, Oguro R, Yasuda O, Miyata K, Yamamoto E, et al. Genetic variants at the 9p21 locus contribute to atherosclerosis through modulation of ANRIL and CDKN2A/B. Atherosclerosis. 2012;220:449-55 pubmed publisher
    ..Overall, our results suggest that several CVD-associated SNPs in the 9p21 locus affect the expression of ANRIL, which, in turn modulate cell growth, possibly via CDKN2A/B regulation. ..
  17. Motterle A, Pu X, Wood H, Xiao Q, Gor S, Ng F, et al. Functional analyses of coronary artery disease associated variation on chromosome 9p21 in vascular smooth muscle cells. Hum Mol Genet. 2012;21:4021-9 pubmed publisher
    ..This genomic region contains the CDKN2A and CDKN2B genes which encode the cell cycle regulators p16(INK4a), p14(ARF) and p15(INK4b) and the ANRIL gene which encodes ..
  18. Liu Z, Wang L, Wang L, Lu K, Mills G, Bondy M, et al. Methylation and messenger RNA expression of p15INK4b but not p16INK4a are independent risk factors for ovarian cancer. Clin Cancer Res. 2005;11:4968-76 pubmed
    The purpose of this research was to compare methylation status and mRNA expression of p15INK4b and p16INK4a in serous epithelial ovarian cancer tissues and normal ovarian tissues...
  19. Saxena R, Voight B, Lyssenko V, Burtt N, de Bakker P, Chen H, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007;316:1331-6 pubmed
    ..and WTCCC/UKT2D), we identified and confirmed three loci associated with T2D-in a noncoding region near CDKN2A and CDKN2B, in an intron of IGF2BP2, and an intron of CDKAL1-and replicated associations near HHEX and in SLC30A8 found by a ..
  20. Staller P, Peukert K, Kiermaier A, Seoane J, Lukas J, Karsunky H, et al. Repression of p15INK4b expression by Myc through association with Miz-1. Nat Cell Biol. 2001;3:392-9 pubmed
    ..Miz-1 upregulates expression of the cyclin-dependent kinases (CDK) inhibitor p15INK4b by binding to the initiator element of the p15INK4b promoter...
  21. Horikoshi M, Hara K, Ito C, Shojima N, Nagai R, Ueki K, et al. Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. Diabetologia. 2007;50:2461-6 pubmed
    ..subunit associated protein 1-like 1 (CDKAL1), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B) and insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), which had not been in the list of functional ..
  22. Gayther S, Song H, Ramus S, Kjaer S, Whittemore A, Quaye L, et al. Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer. Cancer Res. 2007;67:3027-35 pubmed 13 genes involved in cell cycle control-CCND1, CCND2, CCND3, CCNE1, CDK2, CDK4, CDK6, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, and CDKN2D-and risk of invasive epithelial ovarian cancer...
  23. Scott L, Mohlke K, Bonnycastle L, Willer C, Li Y, Duren W, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007;316:1341-5 pubmed the identification of T2D-associated variants near the genes IGF2BP2 and CDKAL1 and the region of CDKN2A and CDKN2B, and confirm that variants near TCF7L2, SLC30A8, HHEX, FTO, PPARG, and KCNJ11 are associated with T2D risk...
  24. Bei J, Li Y, Jia W, Feng B, Zhou G, Chen L, et al. A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. Nat Genet. 2010;42:599-603 pubmed publisher
    ..53x10(-9), odds ratio (OR)=1.20), MDS1-EVI1 on 3q26 (rs6774494, Pcombined=1.34x10(-8), OR=0.84) and the CDKN2A-CDKN2B gene cluster on 9p21 (rs1412829, Pcombined=4.84x10(-7), OR=0.78)...
  25. Kotake Y, Nakagawa T, Kitagawa K, Suzuki S, Liu N, Kitagawa M, et al. Long non-coding RNA ANRIL is required for the PRC2 recruitment to and silencing of p15(INK4B) tumor suppressor gene. Oncogene. 2011;30:1956-62 pubmed publisher
    A 42?kb region on human chromosome 9p21 encodes for three distinct tumor suppressors, p16(INK4A), p14(ARF) and p15(INK4B), and is altered in an estimated 30-40% of human tumors...
  26. Lauenborg J, Grarup N, Damm P, Borch Johnsen K, Jørgensen T, Pedersen O, et al. Common type 2 diabetes risk gene variants associate with gestational diabetes. J Clin Endocrinol Metab. 2009;94:145-50 pubmed publisher
    ..This supports the hypothesis that GDM and type 2 diabetes are two of the same entity. ..
  27. Endo M, Kobayashi C, Setsu N, Takahashi Y, Kohashi K, Yamamoto H, et al. Prognostic significance of p14ARF, p15INK4b, and p16INK4a inactivation in malignant peripheral nerve sheath tumors. Clin Cancer Res. 2011;17:3771-82 pubmed publisher
    p14(ARF), p15(INK4b), and p16(INK4a) are tumor suppressor genes that are located closely at 9p21 and are often coinactivated by genetic or epigenetic alterations...
  28. Cauchi S, Meyre D, Durand E, Proenca C, Marre M, Hadjadj S, et al. Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value. PLoS ONE. 2008;3:e2031 pubmed publisher
    ..Genes expressed in the pancreas interact together and their combined effect dramatically increases the risk for T2D, opening avenues for the development of genetic prediction tests. ..
  29. Kamb A, Gruis N, Weaver Feldhaus J, Liu Q, Harshman K, Tavtigian S, et al. A cell cycle regulator potentially involved in genesis of many tumor types. Science. 1994;264:436-40 pubmed
    ..These findings suggest that MTS1 mutations are involved in tumor formation in a wide range of tissues. ..
  30. Moore A, Jablonski K, McAteer J, Saxena R, Pollin T, Franks P, et al. Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program. Diabetes. 2008;57:2503-10 pubmed publisher
  31. Groenewoud M, Dekker J, Fritsche A, Reiling E, Nijpels G, Heine R, et al. Variants of CDKAL1 and IGF2BP2 affect first-phase insulin secretion during hyperglycaemic clamps. Diabetologia. 2008;51:1659-63 pubmed publisher
    ..Variants of the HHEX/IDE, CDKAL1, SLC30A8, IGF2BP2 and CDKN2A/CDKN2B genes were genotyped in a cohort of 146 participants with NGT and 126 with IGT from the Netherlands and Germany, ..
  32. Wu Y, Li H, Loos R, Yu Z, Ye X, Chen L, et al. Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Diabetes. 2008;57:2834-42 pubmed publisher
    ..33). Our results indicate that in Chinese Hans, common variants in CDKAL1, CDKN2A/B, IGF2BP2, and SLC30A8 loci independently or additively contribute to type 2 diabetes risk, likely mediated through beta-cell dysfunction. ..
  33. Wrensch M, Jenkins R, Chang J, Yeh R, Xiao Y, Decker P, et al. Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. Nat Genet. 2009;41:905-8 pubmed publisher
    ..On 9p21, rs1412829 near CDKN2B had discovery P = 3.4 x 10(-8), replication P = 0.0038 and combined P = 1.85 x 10(-10). On 20q13...
  34. Goode E, Fridley B, Vierkant R, Cunningham J, Phelan C, Anderson S, et al. Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk. Cancer Epidemiol Biomarkers Prev. 2009;18:935-44 pubmed publisher
    ..CDKN2C, CDKN1A, CCND3, CCND1, CCND2, CDKN1B, CDK2, CDK4, RB1, CDKN2D, and CCNE1) and one gene region (CDKN2A-CDKN2B)...
  35. Hearle N, Damato B, Humphreys J, Wixey J, Green H, Stone J, et al. Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma. Invest Ophthalmol Vis Sci. 2003;44:458-62 pubmed
    ..of somatic deletions of the INK4A-ARF locus in uveal melanomas, strongly suggests that mutations in P16(INK4A) and P15 account for a proportion of uveal melanomas...
  36. Pulizzi N, Lyssenko V, Jonsson A, Osmond C, Laakso M, Kajantie E, et al. Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes. Diabetologia. 2009;52:825-9 pubmed publisher
    ..Low birthweight might affect the strength of the association of some common variants (HHEX, CDKN2A/2B and JAZF1) with type 2 diabetes. These findings need to be replicated in independent cohorts. ..
  37. McKeown P, Merlini P, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet. 2009;41:334-41 pubmed publisher
    ..SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk. ..
  38. Yang X, Liang X, Pfeiffer R, Wheeler W, Maeder D, Burdette L, et al. Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. Fam Cancer. 2010;9:625-33 pubmed publisher
    ..These genetic variants may, at least partially, exert their effects through nevi and tanning ability. ..
  39. Lin X, Song K, Lim N, Yuan X, Johnson T, Abderrahmani A, et al. Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study. Diabetologia. 2009;52:600-8 pubmed publisher
    ..In this population, a simple weighted 15 SNP-based genetic score provides additional information over clinical predictors of prevalent diabetes. At this stage, however, the clinical benefit of this genetic information is limited. ..
  40. Holdt L, Sass K, Gäbel G, Bergert H, Thiery J, Teupser D. Expression of Chr9p21 genes CDKN2B (p15(INK4b)), CDKN2A (p16(INK4a), p14(ARF)) and MTAP in human atherosclerotic plaque. Atherosclerosis. 2011;214:264-70 pubmed publisher
    ..e. cyclin-dependent kinase inhibitors CDKN2B (p15(INK4b)), CDKN2A (p16(INK4a), p14(ARF)) and methylthioadenosine phosphorylase (MTAP) were expressed in human ..
  41. Kudoh K, Ichikawa Y, Yoshida S, Hirai M, Kikuchi Y, Nagata I, et al. Inactivation of p16/CDKN2 and p15/MTS2 is associated with prognosis and response to chemotherapy in ovarian cancer. Int J Cancer. 2002;99:579-82 pubmed
    To define the involvement of p16/CDKN2 and p15/MTS2 tumor-suppressor genes for response to chemotherapy in primary epithelial ovarian cancer, we analyzed alterations of the gene in 45 patients who were treated with primary cytoreductive ..
  42. Thillainadesan G, Isovic M, Loney E, Andrews J, Tini M, Torchia J. Genome analysis identifies the p15ink4b tumor suppressor as a direct target of the ZNF217/CoREST complex. Mol Cell Biol. 2008;28:6066-77 pubmed publisher
    ..Our results establish p15(ink4b) as a direct target of the ZNF217 complex...
  43. van Hoek M, Dehghan A, Witteman J, van Duijn C, Uitterlinden A, Oostra B, et al. Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes. 2008;57:3122-8 pubmed publisher
    ..Combining genetic variants has low predictive value for future type 2 diabetes at a population-based level. The genetic polymorphisms only marginally improved the prediction of type 2 diabetes beyond clinical characteristics. ..
  44. Ramdas W, van Koolwijk L, Ikram M, Jansonius N, De Jong P, Bergen A, et al. A genome-wide association study of optic disc parameters. PLoS Genet. 2010;6:e1000978 pubmed publisher
    ..They revealed two genome-wide significant loci for VCDR, rs1063192 on chromosome 9p21 (p = 6.15x10(-11)) in the CDKN2B gene and rs10483727 on chromosome 14q22.3-q23 (p = 2.93x10(-10)) within 40 kbp of the SIX1 gene...
  45. Ng M, Park K, Oh B, Tam C, Cho Y, Shin H, et al. Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians. Diabetes. 2008;57:2226-33 pubmed publisher
    ..We confirmed the associations of TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/CDKN2B, IGF2BP2, and FTO with risk for type 2 diabetes, with odds ratios ranging from 1.13 to 1.35 (1...
  46. Thillainadesan G, Chitilian J, Isovic M, Ablack J, Mymryk J, Tini M, et al. TGF-?-dependent active demethylation and expression of the p15ink4b tumor suppressor are impaired by the ZNF217/CoREST complex. Mol Cell. 2012;46:636-49 pubmed publisher
    In this study we examine the mechanisms of dynamic DNA methylation of the p15(ink4b) tumor suppressor gene...
  47. Zhao J, Li M, Bradfield J, Wang K, Zhang H, Sleiman P, et al. Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes. 2009;58:2414-8 pubmed publisher
    ..Our data show that the same genetic locus that has been identified as a marker for type 2 diabetes in previous studies also influences birth weight. ..
  48. Burd C, Jeck W, Liu Y, Sanoff H, Wang Z, Sharpless N. Expression of linear and novel circular forms of an INK4/ARF-associated non-coding RNA correlates with atherosclerosis risk. PLoS Genet. 2010;6:e1001233 pubmed publisher
    ..Although this locus encodes three well-characterized tumor suppressors, p16(INK4a), p15(INK4b), and ARF, the SNPs most strongly associated with ASVD are ?120 kb from the nearest coding gene within a long non-..
  49. Stancakova A, Kuulasmaa T, Paananen J, Jackson A, Bonnycastle L, Collins F, et al. Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men. Diabetes. 2009;58:2129-36 pubmed publisher
    ..Oral glucose tolerance tests and genotyping of SNPs in or near PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, LOC387761, CDKN2B, IGF2BP2, CDKAL1, HNF1B, WFS1, JAZF1, CDC123, TSPAN8, THADA, ADAMTS9, NOTCH2, KCNQ1, and MTNR1B were performed...
  50. Haupt A, Guthoff M, Schäfer S, Kirchhoff K, Machicao F, Gallwitz B, et al. The inhibitory effect of recent type 2 diabetes risk loci on insulin secretion is modulated by insulin sensitivity. J Clin Endocrinol Metab. 2009;94:1775-80 pubmed publisher
    ..Effective compensatory mechanisms may exist in subjects with high insulin sensitivity that limit the impact of these genes. ..
  51. Hertel J, Johansson S, Raeder H, Midthjell K, Lyssenko V, Groop L, et al. Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study). Diabetologia. 2008;51:971-7 pubmed publisher
    ..single nucleotide polymorphisms (SNPs) in PKN2, IGFBP2, FLJ39370 (also known as C4ORF32), CDKAL1, SLC30A8, CDKN2B, HHEX and FTO using a Norwegian population-based sample of 1,638 patients with type 2 diabetes and 1,858 non-..
  52. Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, Jonasdottir A, et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007;316:1491-3 pubmed
    ..The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with the disease with high significance...
  53. Pascoe L, Tura A, Patel S, Ibrahim I, Ferrannini E, Zeggini E, et al. Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function. Diabetes. 2007;56:3101-4 pubmed
    ..studies have identified common, novel type 2 diabetes susceptibility loci within the FTO, CDKAL1, CDKN2A/CDKN2B, IGF2BP2, HHEX/IDE, and SLC30A8 gene regions...
  54. Melzer D, Frayling T, Murray A, Hurst A, Harries L, Song H, et al. A common variant of the p16(INK4a) genetic region is associated with physical function in older people. Mech Ageing Dev. 2007;128:370-7 pubmed
    p16(INK4a) is active in cell senescence, ageing and tumor suppression. Deletion of the small p16(INK4a)/ARF/p15(INK4b) region occurs in many cancers...
  55. Rong R, Hanson R, Ortiz D, Wiedrich C, Kobes S, Knowler W, et al. Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians. Diabetes. 2009;58:478-88 pubmed publisher
    In recent genome-wide association studies, variants in CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, CDKN2B, LOC387761, and FTO were associated with risk for type 2 diabetes in Caucasians...
  56. Lyssenko V, Jonsson A, Almgren P, Pulizzi N, Isomaa B, Tuomi T, et al. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med. 2008;359:2220-32 pubmed publisher
    ..The value of genetic factors increased with an increasing duration of follow-up. ..
  57. Horswell S, Fryer L, Hutchison C, Zindrou D, Speedy H, Town M, et al. CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients. J Lipid Res. 2013;54:3491-505 pubmed publisher
    ..Expression values for the cell-cycle inhibitor CDKN2B were increased, replicating data from an independent FCHL cohort...
  58. Zeggini E, Scott L, Saxena R, Voight B, Marchini J, Hu T, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet. 2008;40:638-45 pubmed publisher
    ..1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D. ..
  59. Ramdas W, van Koolwijk L, Lemij H, Pasutto F, Cree A, Thorleifsson G, et al. Common genetic variants associated with open-angle glaucoma. Hum Mol Genet. 2011;20:2464-71 pubmed publisher
    ..The loci studied include ATOH7, CDC7/TGFBR3 and SALL1 for optic disc area, and CDKN2B, SIX1, SCYL1/LTBP3, CHEK2, ATOH7 and DCLK1 for VCDR...
  60. Duesing K, Fatemifar G, Charpentier G, Marre M, Tichet J, Hercberg S, et al. Strong association of common variants in the CDKN2A/CDKN2B region with type 2 diabetes in French Europids. Diabetologia. 2008;51:821-6 pubmed publisher
    Genome-wide association studies (GWASs) recently identified common variants in the CDKN2A/CDKN2B region on chromosome 9p as being strongly associated with type 2 diabetes...
  61. Driver K, Song H, Lesueur F, Ahmed S, Barbosa Morais N, Tyrer J, et al. Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population. Carcinogenesis. 2008;29:333-41 pubmed publisher
    ..evaluate 240 common SNPs found in the genes: CCND1, CCND2, CCND3, CCNE1, CDK2, CDK4, CDK6, CDKN1A, CDKNIB, CDKN2A/CDKN2B, CDKN2C and CDKN2D...
  62. Omori S, Tanaka Y, Takahashi A, Hirose H, Kashiwagi A, Kaku K, et al. Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Diabetes. 2008;57:791-5 pubmed
    ..We have identified 6 of the 11 loci that were identified by genome-wide association studies in white populations, and these loci are considered strong candidates for type 2 diabetes susceptibility across different ethnicities. ..
  63. Popov N, Gil J. Epigenetic regulation of the INK4b-ARF-INK4a locus: in sickness and in health. Epigenetics. 2010;5:685-90 pubmed
    The INK4b-ARF-INK4a locus encodes for two cyclin-dependent kinase inhibitors, p15(INK4b) and p16(INK4a) and a regulator of the p53 pathway, ARF. In addition ANRIL, a non-coding RNA, is also transcribed from the locus...
  64. Schaefer A, Richter G, Groessner Schreiber B, Noack B, Nothnagel M, El Mokhtari N, et al. Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. PLoS Genet. 2009;5:e1000378 pubmed publisher
    ..of the large antisense noncoding RNA ANRIL, which partly overlaps regulatory and coding sequences of CDKN2A/CDKN2B. A closely located diabetes-associated variant was independent of the CHD and periodontitis risk haplotypes...
  65. Han X, Luo Y, Ren Q, Zhang X, Wang F, Sun X, et al. Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population. BMC Med Genet. 2010;11:81 pubmed publisher
    ..Our findings support the important contribution of these genetic loci to susceptibility for T2D in the Chinese Han population in Beijing of China. ..
  66. Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, Maranian M, et al. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet. 2010;42:504-7 pubmed publisher
  67. Cunnington M, Santibanez Koref M, Mayosi B, Burn J, Keavney B. Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. PLoS Genet. 2010;6:e1000899 pubmed publisher
    ..the association between 56 SNPs in this region and peripheral blood expression of the three nearest genes CDKN2A, CDKN2B, and ANRIL using total and allelic expression in two populations of healthy volunteers: 177 British Caucasians and ..
  68. Healy J, Belanger H, Beaulieu P, Larivière M, Labuda D, Sinnett D. Promoter SNPs in G1/S checkpoint regulators and their impact on the susceptibility to childhood leukemia. Blood. 2007;109:683-92 pubmed
    ..of promoter single-nucleotide polymorphisms (pSNPs) in the cyclin-dependent-kinase inhibitor genes CDKN2A, CDKN2B, CDKN1A, and CDKN1B in the etiology of childhood pre-B acute lymphoblastic leukemia (ALL)...