Gene: CDKN2B-AS1

Alternate names for this Gene: ANRIL|CDKN2B-AS|CDKN2BAS|NCRNA00089|PCAT12|p15AS

Gene Summary: 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).

Gene is located in Chromosome: 9

Location in Chromosome : 9p21.3

Description of this Gene: CDKN2B antisense RNA 1

Type of Gene: ncRNA

rs1011970 in CDKN2B-AS1 gene and Adenocarcinoma of large intestine PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1011970 in CDKN2B-AS1 gene and Adenocarcinoma of lung (disorder) PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs1537372 in CDKN2B-AS1 gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs17694493 in CDKN2B-AS1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1004638 in CDKN2B-AS1 gene and Ankle brachial pressure index (observable entity) PMID 22199011 2012 Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.

PMID 22199011 2012 In the discovery meta-analysis, rs10757269 on chromosome 9 near CDKN2B had the strongest association with ABI (β=-0.006, P=2.46×10(-8)).

PMID 31285632 2019 Genome-wide association study of peripheral artery disease in the Million Veteran Program.

rs10757274 in CDKN2B-AS1 gene and Aortic Aneurysm, Abdominal PMID 27899403 2017 Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.

PMID 20622881 2010 Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.

PMID 27418160 2016 Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

rs7866503 in CDKN2B-AS1 gene and Aortic Aneurysm, Thoracic PMID 27418160 2016 Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

rs1333048 in CDKN2B-AS1 gene and Atrial Fibrillation PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs2151280 in CDKN2B-AS1 gene and Basal Cell Cancer PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs2151280 in CDKN2B-AS1 gene and Basal Cell Neoplasm PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

rs2151280 in CDKN2B-AS1 gene and Basal cell carcinoma PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs1333049 in CDKN2B-AS1 gene and Body mass index PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs1011970 in CDKN2B-AS1 gene and Breast Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

rs1011970 in CDKN2B-AS1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1011970 in CDKN2B-AS1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1011970 in CDKN2B-AS1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1011970 in CDKN2B-AS1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1333049 in CDKN2B-AS1 gene and CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs1004638 in CDKN2B-AS1 gene and Calcification of coronary artery PMID 23394302 2013 Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study.

PMID 22144573 2011 Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.

PMID 23727086 2013 Candidate gene association study of coronary artery calcification in chronic kidney disease: findings from the CRIC study (Chronic Renal Insufficiency Cohort).

PMID 22144573 2011 Genome-wide significant associations with CAC for SNPs on chromosome 9p21 near CDKN2A and CDKN2B (top SNP: rs1333049; P=7.58×10(-19)) and 6p24 (top SNP: rs9349379, within the PHACTR1 gene; P=2.65×10(-11)) replicated for CAC and for MI.

PMID 23561647 2013 The 9p21 locus was significantly associated with coronary artery calcification (rs1537370, P = 2.3 × 10(-11)).

PMID 23394302 2013 The 9p21 variant, rs1537373, was most strongly associated (Beta=0.30; 95% confidence interval (CI)=0.21-0.39; p=4.05x10-11) with quantitative CAC.

rs1011970 in CDKN2B-AS1 gene and Carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs2151280 in CDKN2B-AS1 gene and Carcinoma, Basal Cell PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

rs9632884 in CDKN2B-AS1 gene and Carotid Atherosclerosis PMID 30510157 2018 GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.

rs1412829 in CDKN2B-AS1 gene and Central Nervous System Neoplasms PMID 19578366 2009 Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

PMID 21531791 2011 Chromosome 7p11.2 (EGFR) variation influences glioma risk.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 22886559 2012 Genome-wide association study of glioma and meta-analysis.

PMID 19578367 2009 Genome-wide association study identifies five susceptibility loci for glioma.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs1333048 in CDKN2B-AS1 gene and Cerebrovascular accident PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs1011970 in CDKN2B-AS1 gene and Colorectal Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1011970 in CDKN2B-AS1 gene and Colorectal Neoplasms PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs10738607 in CDKN2B-AS1 gene and Coronary Artery Disease PMID 26708285 2016 Among the four variants reaching GWAS significance in the present study, the rs10738607_G [0.78(0.71-0.85); p = 2.17E-08] in CDNK2A/B gene was associated with CAD.

PMID 17634449 2007 Genomewide association analysis of coronary artery disease.

PMID 30003307 2018 We found genome-wide significant evidence for association with CAD at the previously well-established LPA locus (lead variant: rs74617384; OR 1.38 [95% CI 1.26, 1.51], p = 3.2 × 10<sup>-12</sup>) and at 9p21 (lead variant: rs10811652; OR 1.19 [95% CI 1.13, 1.26], p = 6.0 × 10<sup>-11</sup>).

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

PMID 29472232 2018 Genome-Wide Association and Functional Studies Identify SCML4 and THSD7A as Novel Susceptibility Genes for Coronary Artery Disease.

PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.

PMID 29263402 2017 Genome-wide association study identifies a missense variant at APOA5 for coronary artery disease in Multi-Ethnic Cohorts from Southeast Asia.

PMID 28714974 2017 Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.

rs10217586 in CDKN2B-AS1 gene and Coronary heart disease PMID 23364394 2013 A genome-wide association study of a coronary artery disease risk variant.

PMID 22751097 2012 Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.

PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PMID 21606135 2011 A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.

PMID 21966275 2011 Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 21626137 2011 Two-marker association tests yield new disease associations for coronary artery disease and hypertension.

PMID 17554300 2007 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

PMID 22319020 2012 A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

PMID 17634449 2007 Of thousands of chromosomal loci studied, the same locus had the strongest association with coronary artery disease in both the WTCCC and the German studies: chromosome 9p21.3 (SNP, rs1333049) (P=1.80x10(-14) and P=3.40x10(-6), respectively).

PMID 21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

PMID 21239051 2011 Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.

PMID 21378988 2011 A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.

PMID 29615537 2018 Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.

PMID 21971053 2012 Genome-wide association study of coronary artery disease in the Japanese.

rs10811652 in CDKN2B-AS1 gene and Diabetes PMID 30003307 2018 Genome-wide association study of coronary artery disease among individuals with diabetes: the UK Biobank.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs10811652 in CDKN2B-AS1 gene and Diabetes Mellitus PMID 30003307 2018 Genome-wide association study of coronary artery disease among individuals with diabetes: the UK Biobank.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs564398 in CDKN2B-AS1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 17463249 2007 Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

rs1333049 in CDKN2B-AS1 gene and Diastolic blood pressure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs1011970 in CDKN2B-AS1 gene and Endometrioid carcinoma ovary PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs10757272 in CDKN2B-AS1 gene and Endometriosis PMID 28537267 2017 Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.

PMID 20601957 2010 Through a genome-wide association study and a replication study using a total of 1,907 Japanese individuals with endometriosis (cases) and 5,292 controls, we identified a significant association of endometriosis with rs10965235 (P = 5.57 x 10(-12), odds ratio = 1.44), which is located in CDKN2BAS on chromosome 9p21, encoding the cyclin-dependent kinase inhibitor 2B antisense RNA.

rs10120688 in CDKN2B-AS1 gene and Glaucoma PMID 22792221 2012 Common variants on chromosome 9p21 are associated with normal tension glaucoma.

PMID 21532571 2011 Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

PMID 22792221 2012 The SNPs near rs523096 were recently reported to be associated with OAG associated with elevated IOP in primary open-angle glaucoma (POAG), the predominant subtype of glaucoma in Caucasian populations.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

rs1008878 in CDKN2B-AS1 gene and Glaucoma, Open-Angle PMID 22570617 2012 Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.

PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

PMID 22428042 2012 Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese.

PMID 25861811 2015 A common variant near TGFBR3 is associated with primary open angle glaucoma.

PMID 25173105 2014 Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.

PMID 27623284 2016 Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium.

PMID 29452408 2018 Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.

rs145929329 in CDKN2B-AS1 gene and Glioblastoma PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 30152087 2018 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.

rs145929329 in CDKN2B-AS1 gene and Glioblastoma Multiforme PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 30152087 2018 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.

rs10116277 in CDKN2B-AS1 gene and Glioma PMID 21531791 2011 Chromosome 7p11.2 (EGFR) variation influences glioma risk.

PMID 19578367 2009 Genome-wide association study identifies five susceptibility loci for glioma.

PMID 19578366 2009 Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 22886559 2012 Genome-wide association study of glioma and meta-analysis.

PMID 19578367 2009 We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 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 = 1.07 x 10(-8)).

PMID 29743610 2018 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs1333049 in CDKN2B-AS1 gene and Glucose measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs1333048 in CDKN2B-AS1 gene and Heart failure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs1333049 in CDKN2B-AS1 gene and Hematocrit procedure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs1333049 in CDKN2B-AS1 gene and High density lipoprotein measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs1333047 in CDKN2B-AS1 gene and Hypertensive disease PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs10733376 in CDKN2B-AS1 gene and Intracranial Aneurysm PMID 25256182 2014 Genome-wide evidence of association was detected in the discovery sample on chromosome 9 (CDKN2BAS; rs10733376: P<1.0×10(-11)), in a gene previously associated with IA.

PMID 22286173 2012 Additionally, we successfully replicated and validated rs10757272 on CDKN2BAS at chromosome 9p21.3 (combined P-value = 1.55 × 10(-7); odds ratio = 1.21) to be significantly associated with IA as previously reported.

PMID 18997786 2008 Susceptibility loci for intracranial aneurysm in European and Japanese populations.

PMID 20364137 2010 Genome-wide association study of intracranial aneurysm identifies three new risk loci.

PMID 22961961 2012 However, the metaanalysis yielded genomewide significance for SNP on chromosome 9p (CDKN2BAS; rs6475606; P=3.6×10(-8)) and provided further evidence to support the previously reported association of IA with SNP in SOX17 on chromosome 8q (rs1072737; P=8.7×10(-5)).

PMID 27418160 2016 Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

rs7859727 in CDKN2B-AS1 gene and Ischemic stroke PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs7039467 in CDKN2B-AS1 gene and Longevity PMID 31413261 2019 A meta-analysis of genome-wide association studies identifies multiple longevity genes.

rs1333037 in CDKN2B-AS1 gene and Low Tension Glaucoma PMID 26752265 2016 Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

rs7036489 in CDKN2B-AS1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10757278 in CDKN2B-AS1 gene and Major Depressive Disorder PMID 23377640 2013 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.

rs1333048 in CDKN2B-AS1 gene and Malignant Neoplasms PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs8181047 in CDKN2B-AS1 gene and Malignant neoplasm of anterior portion of floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1011970 in CDKN2B-AS1 gene and Malignant neoplasm of breast PMID 20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs8181047 in CDKN2B-AS1 gene and Malignant neoplasm of floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1011970 in CDKN2B-AS1 gene and Malignant neoplasm of large intestine PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs8181047 in CDKN2B-AS1 gene and Malignant neoplasm of lateral floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs8181047 in CDKN2B-AS1 gene and Malignant neoplasm of mouth PMID 27749845 2016 Oral cancer was associated with two new regions, 2p23.3 (rs6547741, GPN1) and 9q34.12 (rs928674, LAMC3), and with known cancer-related loci-9p21.3 (rs8181047, CDKN2B-AS1) and 5p15.33 (rs10462706, CLPTM1L).

rs8181047 in CDKN2B-AS1 gene and Malignant neoplasm of other sites within the lip and oral cavity PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs8181047 in CDKN2B-AS1 gene and Malignant neoplasm of other specified parts of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1011970 in CDKN2B-AS1 gene and Malignant tumor of colon PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs10116277 in CDKN2B-AS1 gene and Myocardial Infarction PMID 17478679 2007 A common variant on chromosome 9p21 affects the risk of myocardial infarction.

PMID 26708285 2016 A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs.

PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

PMID 19198609 2009 Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

rs1412829 in CDKN2B-AS1 gene and Nasopharyngeal Neoplasms PMID 26545403 2016 A GWAS Meta-analysis and Replication Study Identifies a Novel Locus within CLPTM1L/TERT Associated with Nasopharyngeal Carcinoma in Individuals of Chinese Ancestry.

PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs1412829 in CDKN2B-AS1 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs1011970 in CDKN2B-AS1 gene and Ovarian Serous Adenocarcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs1537372 in CDKN2B-AS1 gene and Peripheral Arterial Diseases PMID 31285632 2019 Genome-wide association study of peripheral artery disease in the Million Veteran Program.

rs1011970 in CDKN2B-AS1 gene and Prostate carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 25217961 2014 A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.

PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

rs1333049 in CDKN2B-AS1 gene and Pseudocholinesterase Measurement PMID 21239051 2011 Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.

rs17694493 in CDKN2B-AS1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs7036489 in CDKN2B-AS1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10738607 in CDKN2B-AS1 gene and Serum total cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 31201950 2019 Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation, and plasma lipids in the Health and Retirement Study.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs1011970 in CDKN2B-AS1 gene and Squamous cell carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs1333045 in CDKN2B-AS1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs1333049 in CDKN2B-AS1 gene and Triglycerides measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs1333049 in CDKN2B-AS1 gene and elevated blood glucose level PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs1011970 in CDKN2B-AS1 gene and ovarian neoplasm PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.