Gene: CDKAL1

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: CDK5 regulatory subunit associated protein 1 like 1

Type of Gene: protein-coding

rs9295482 in CDKAL1 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs114158228 in CDKAL1 gene and Age at menopause PMID 23424626 2013 Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study.

rs62400067 in CDKAL1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs2328530 in CDKAL1 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs6908425 in CDKAL1 gene and Asthma PMID 21150878 2011 Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.

rs7741604 in CDKAL1 gene and Autistic Disorder PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.

rs4712523 in CDKAL1 gene and Autoantibody measurement PMID 19734900 2009 Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.

rs35261542 in CDKAL1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.

PMID 23202124 2013 New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.

rs2206734 in CDKAL1 gene and Body mass index PMID 22344221 2012 Here we report a genome-wide association study and replication studies with 62,245 east Asian subjects, which identified two new body mass index-associated loci in the CDKAL1 locus at 6p22 (rs2206734, P = 1.4 × 10(-11)) and the KLF9 locus at 9q21 (rs11142387, P = 1.3 × 10(-9)), as well as several previously reported loci (the SEC16B, BDNF, FTO, MC4R and GIPR loci, P < 5.0 × 10(-8)).

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

PMID 22344219 2012 Meta-analysis identifies common variants associated with body mass index in east Asians.

PMID 24861553 2014 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

rs2206734 in CDKAL1 gene and Body mass index procedure PMID 22344221 2012 Here we report a genome-wide association study and replication studies with 62,245 east Asian subjects, which identified two new body mass index-associated loci in the CDKAL1 locus at 6p22 (rs2206734, P = 1.4 × 10(-11)) and the KLF9 locus at 9q21 (rs11142387, P = 1.3 × 10(-9)), as well as several previously reported loci (the SEC16B, BDNF, FTO, MC4R and GIPR loci, P < 5.0 × 10(-8)).

PMID 22344219 2012 Meta-analysis identifies common variants associated with body mass index in east Asians.

PMID 24861553 2014 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

rs2223621 in CDKAL1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs4510656 in CDKAL1 gene and Carcinoma of bladder PMID 24163127 2014 Genome-wide association study identifies multiple loci associated with bladder cancer risk.

rs9368222 in CDKAL1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9465922 in CDKAL1 gene and Cerebrovascular accident PMID 22384361 2011 Genome-wide association analysis of ischemic stroke in young adults.

rs9350272 in CDKAL1 gene and Chloride measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2328530 in CDKAL1 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs10946398 in CDKAL1 gene and Coronary heart 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.

rs2328530 in CDKAL1 gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 18587394 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs6914598 in CDKAL1 gene and Cutaneous Melanoma PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs1040558 in CDKAL1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 22158537 2011 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.

PMID 23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

PMID 20581827 2010 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.

PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

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

PMID 17463249 2007 Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

PMID 19056611 2009 Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.

PMID 20818381 2010 A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.

PMID 17460697 2007 A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.

PMID 29358691 2018 Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

PMID 26818947 2016 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.

PMID 19401414 2009 Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.

PMID 19734900 2009 Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.

PMID 18711366 2008 SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.

PMID 18372903 2008 Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.

PMID 17463248 2007 A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.

PMID 23945395 2014 Genome-wide association study identifies three novel loci for type 2 diabetes.

PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

PMID 22961080 2013 A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.

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

PMID 22325160 2012 Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

PMID 21647700 2011 Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.

PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

PMID 26961502 2016 Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 22693455 2012 Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.

PMID 25483131 2014 T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.

PMID 27189021 2016 Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility.

PMID 23575436 2013 New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.

PMID 31118516 2019 Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

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

PMID 28406950 2017 A total of 3 SNPs [rs9465871 (CDKAL1), rs10761745 (JMJD1C), and rs163177 (KCNQ1)] were selected as candidate SNPs related to T2D.

rs7756992 in CDKAL1 gene and Fasting blood glucose measurement PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 25187374 2015 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.

PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs7756992 in CDKAL1 gene and Fasting blood sugar result PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs9368207 in CDKAL1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2206734 in CDKAL1 gene and Finding of body mass index PMID 22344221 2012 Here we report a genome-wide association study and replication studies with 62,245 east Asian subjects, which identified two new body mass index-associated loci in the CDKAL1 locus at 6p22 (rs2206734, P = 1.4 × 10(-11)) and the KLF9 locus at 9q21 (rs11142387, P = 1.3 × 10(-9)), as well as several previously reported loci (the SEC16B, BDNF, FTO, MC4R and GIPR loci, P < 5.0 × 10(-8)).

PMID 22344219 2012 Meta-analysis identifies common variants associated with body mass index in east Asians.

PMID 24861553 2014 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

rs10946398 in CDKAL1 gene and Gestational Diabetes PMID 22233651 2012 A genome-wide association study of gestational diabetes mellitus in Korean women.

PMID 22233651 2012 Two loci known to be associated with type 2 diabetes had a genome-wide significant association with GDM in the joint analysis. rs7754840, a variant in CDKAL1, had the strongest association with GDM (odds ratio 1.518; P=6.65×10(-16)).

rs9358356 in CDKAL1 gene and Glucose measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs78287738 in CDKAL1 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs9465848 in CDKAL1 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2328546 in CDKAL1 gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs742642 in CDKAL1 gene and Insulin Sensitivity Measurement PMID 24699409 2014 A central role for GRB10 in regulation of islet function in man.

rs742642 in CDKAL1 gene and Insulin measurement PMID 24699409 2014 A central role for GRB10 in regulation of islet function in man.

rs11970030 in CDKAL1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs16884688 in CDKAL1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs6914598 in CDKAL1 gene and Malignant melanoma of skin of lower limb PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs6914598 in CDKAL1 gene and Malignant melanoma of skin of upper limb PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs4510656 in CDKAL1 gene and Malignant neoplasm of urinary bladder PMID 24163127 2014 Genome-wide association study identifies multiple loci associated with bladder cancer risk.

rs6908425 in CDKAL1 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs2015426 in CDKAL1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs2328530 in CDKAL1 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs4712528 in CDKAL1 gene and Psoriasis vulgaris PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.

rs9465848 in CDKAL1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs16884688 in CDKAL1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7766970 in CDKAL1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7451008 in CDKAL1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

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

rs2328530 in CDKAL1 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs35612982 in CDKAL1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs17584626 in CDKAL1 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

rs12192912 in CDKAL1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9358356 in CDKAL1 gene and elevated blood glucose level PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs6914598 in CDKAL1 gene and melanoma PMID 28212542 2017 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.