{{Rsnum
|rsid=7756992
|Gene=CDKAL1
|Chromosome=6
|position=20679478
|Orientation=plus
|GMAF=0.4054
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CDKAL1
}}{{ 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|OA=1
}} 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|OA=1
}} 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
|OA=1
}}

{{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
|OA=1
}}

{{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
|OA=1
}}

{{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.
|OA=1
}}

{{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.
|OA=1
}}

{{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.
|OA=1
}}

{{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.
|OA=1
}}

{{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).
|OA=1
}}

{{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.
|OA=1
}}

{{PMID Auto
|PMID=19279076
|Title=Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.
|OA=1
}}

{{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.
|OA=1
}}

{{PMID Auto
|PMID=19455305
|Title=No association of multiple type 2 diabetes loci with type 1 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19750184
|Title=Genome-wide association studies for atherosclerotic vascular disease and its risk factors.
|OA=1
}}

{{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.
|OA=1
}}

{{PMID Auto
|PMID=20080751
|Title=Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
|OA=1
}}

{{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.
|OA=1
}}

{{PMID Auto
|PMID=21368910
|Title=Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.
|OA=1
}}

{{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
}}

{{PMID Auto
|PMID=23990951
|Title=Association of genetic variants with isolated fasting hyperglycaemia and isolated postprandial hyperglycaemia in a han chinese population
|OA=1
}}

{{PMID Auto
|PMID=24468095
|Title=Genetic variants for type 2 diabetes and new-onset cancer in Chinese with type 2 diabetes
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}