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{{ population diversity | geno1=(A;A) | geno2=(A;G) | geno3=(G;G) | CEU | 53.1 | 38.1 | 8.8 | HCB | 24.8 | 49.6 | 25.5 | JPT | 30.4 | 47.3 | 22.3 | YRI | 19.7 | 44.2 | 36.1 | ASW | 17.5 | 59.6 | 22.8 | CHB | 24.8 | 49.6 | 25.5 | CHD | 28.4 | 42.2 | 29.4 | GIH | 57.4 | 37.6 | 5.0 | LWK | 20.0 | 43.6 | 36.4 | MEX | 39.7 | 51.7 | 8.6 | MKK | 20.5 | 41.0 | 38.5 | TSI | 58.8 | 34.3 | 6.9 | HapMapRevision=28 }}[[Polycystic Kidney disease]] {{PMID|18162508}} [[rs7756992]] significantly p = 0.0363 associated with [[type-2 diabetes]] in 1,630 Japanese subjects and in 1,064 controls {{PMID|18477659}} [[rs7756992]] replicated as significant for [[type-2 diabetes]] risk in 1,900 Japanese patients, with odds ratio of 1.27 (CI: 1.15-1.40, p = 9.8 x 10e-7) {{PMID|18437351}} 1,638 [[type 2 diabetes]] patients and 1,858 controls *[[rs7756992]] non-significant {{PMID|18461161}} T2D and normal glucose tolerant (NGT) individuals. (3,295 T2D and 3,595 NGT), strong associations with T2D were found for *CDKAL1 (OR([[rs7756992]]) = 1.30[1.19-1.42], P = 2.3x10(-9)) *CDKN2A/2B (OR([[rs10811661]]) = 0.74[0.66-0.82], P = 3.5x10(-8)) *IGFBP2 (OR([[rs1470579]]) = 1.17[1.07-1.27], P = 0.0003) SNPs. T2D risk increased strongly when risk alleles, including the previously discovered T2D-associated TCF7L2 [[rs7903146]] SNP, were combined (8.68-fold for the 14% of French individuals carrying 18 to 30 risk alleles with an allelic OR of 1.24) {{PMID|19033397}} This SNP was confirmed to be associated with [[type-2 diabetes]] in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese). {{GWAS Summary |SNP=rs7756992 |PubMedID=17460697 |Condition=Type 2 diabetes |Gene=CDKAL1 |Risk Allele=G |pValue=8.00E-009 |OR=1.2 |95CI=1.13-1.27 }} {{omim |id=611259 |desc=CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1 |rsnum=7756992 }} {{PMID Auto |PMID=19718565 |Title=Genetic variants of cyclin-dependent kinase 5 regulatory subunit associated protein 1-like 1 and transcription factor 7-like 2 are not associated with polycystic ovary syndrome in Chinese women }} {{PMID Auto |PMID=19592620 |Title=Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene }} {{PharmGKB |RSID=rs7756992 |Name_s= |Gene_s=CDKAL1 |Feature= |Evidence=PubMed ID:17460697; Web Resource:http://www.genome.gov/gwastudies/ |Annotation=GWAS Results: A variant in CDKAL1 influences insulin response and risk of type 2 diabetes (Initial Sample Size: 1,399 EA cases, 5,275 EA controls; Replication Sample Size: 2,437 EA cases, 7,287 EA controls; Risk Allele: rs7756992-G). |Drugs= |Drug Classes= |Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 2 |Curation Level=Non-Curated |PharmGKB Accession ID=PA162356606 }} {{PMID Auto |PMID=20043145 |Title=Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study }} {{PMID Auto |PMID=20490451 |Title=Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight }} {{PharmGKB |RSID=rs7756992 |Name_s= |Gene_s=CDKAL1 |Feature= |Evidence=PubMed ID:18461161 |Annotation=This variant has been reported to be significantly associated with type 2 diabetes. |Drugs= |Drug Classes= |Diseases=Diabetes Mellitus, Type 2 |Curation Level=Curated |PharmGKB Accession ID=PA161749007 }} {{omim |id=611259 |rsnum=7756992 |variant=0002 }} {{PMID Auto |PMID=22052079 |Title=Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs }} {{PMID Auto |PMID=21611789 |Title=The carriage of risk variants of CDKAL1 impairs beta-cell function in both diabetic and non-diabetic patients and reduces response to non-sulfonylurea and sulfonylurea agonists of the pancreatic KATP channel }} {{PMID Auto |PMID=22437209 |Title=Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case-control study in Han Chinese }} {{PMID Auto |PMID=17786212 |Title=Heterogeneity in meta-analyses of genome-wide association investigations. }} {{PMID Auto |PMID=17928989 |Title=Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. }} {{PMID Auto |PMID=18210030 |Title=Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study. }} {{PMID Auto |PMID=18426861 |Title=Association analysis of type 2 diabetes Loci in type 1 diabetes. }} {{PMID Auto |PMID=18469204 |Title=Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians. }} {{PMID Auto |PMID=18633108 |Title=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. }} {{PMID Auto |PMID=18835935 |Title=Genome-wide linkage scan in Gullah-speaking African American families with type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR). }} {{PMID Auto |PMID=19002430 |Title=Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population. }} {{PMID Auto |PMID=19008344 |Title=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. }} {{PMID Auto |PMID=19279076 |Title=Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men. }} {{PMID Auto |PMID=19401414 |Title=Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. }} {{PMID Auto |PMID=19455305 |Title=No association of multiple type 2 diabetes loci with type 1 diabetes. }} {{PMID Auto |PMID=19474294 |Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. }} {{PMID Auto |PMID=19750184 |Title=Genome-wide association studies for atherosclerotic vascular disease and its risk factors. }} {{PMID Auto |PMID=19862325 |Title=PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. }} {{PMID Auto |PMID=20080751 |Title=Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. }} {{PMID Auto |PMID=20580033 |Title=Replication of recently described type 2 diabetes gene variants in a South Indian population. }} {{PMID Auto |PMID=21278902 |Title=Genetic risk profiling for prediction of type 2 diabetes. }} {{PMID Auto |PMID=21368910 |Title=Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender. }} {{PMID Auto |PMID=21416855 |Title=[Relationship of the CDKAL1 and KCNQ1 gene polymorphisms to the age at diagnosis of type 2 diabetes in the Slovakian population]. }} {{PMID Auto |PMID=22119613 |Title=Replication study of common variants in CDKAL1 and CDKN2A/2B genes associated with type 2 diabetes in Lebanese Arab population. }} {{PMID Auto |PMID=22292718 |Title=Variation in CDKAL1 gene is associated with therapeutic response to sulphonylureas. }} {{GET Evidence |impact=pathogenic |qualified_impact=Insufficiently evaluated pathogenic |inheritance=unknown |quality_scores=Array |dbsnp_id=rs7756992 |overall_frequency_n=61 |overall_frequency_d=128 |overall_frequency=0.476562 |n_genomes=41 |n_genomes_annotated=0 |n_haplomes=54 |n_articles=1 |n_articles_annotated=0 |in_gwas=Y |in_pharmgkb=Y |autoscore=2 |webscore=N }} {{ on chip | 23andMe v1 }} {{ on chip | Affy GenomeWide 6}} {{ on chip | Illumina Human 1M}} {{on chip | 23andMe v1}} {{on chip | 23andMe v2}} {{on chip | 23andMe v3}} {{on chip | Affy GenomeWide 6}} {{on chip | HumanOmni1Quad}} {{on chip | Illumina Human 1M}}
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