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rs7756992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 1.3x increased risk for type-2 diabetes
(G;G) 1.3x increased risk for type-2 diabetes
ReferenceGRCh38 38.1/141
Chromosome6
Position20679478
GeneCDKAL1
is asnp
is mentioned by
dbSNPrs7756992
ebirs7756992
HLIrs7756992
Exacrs7756992
Varsomers7756992
Maprs7756992
PheGenIrs7756992
hapmaprs7756992
1000 genomesrs7756992
hgdprs7756992
ensemblrs7756992
gopubmedrs7756992
geneviewrs7756992
scholarrs7756992
googlers7756992
pharmgkbrs7756992
gwascentralrs7756992
openSNPrs7756992
23andMers7756992
23andMe allrs7756992
SNP Nexus

SNPshotrs7756992
SNPdbers7756992
MSV3drs7756992
GWAS Ctlgrs7756992
GMAF0.4054
Max Magnitude0
? (A;A) (A;G) (G;G) 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 18461161OA-icon.png] 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 19033397OA-icon.png] 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
SNP rs7756992
PubMedID [PMID 17460697]
Condition Type 2 diabetes
Gene CDKAL1
Risk Allele G
pValue 8.00E-009
OR 1.2
95% CI 1.13-1.27


OMIM611259
DescCDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1
Variant
Relatedalso

[PMID 19718565] 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 19592620OA-icon.png] Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene


[PMID 20043145OA-icon.png] Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study


[PMID 20490451] Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight


OMIM611259
Desc
Variant0002
Relatedalso
[PMID 22052079OA-icon.png] Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs


[PMID 21611789] 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 22437209] Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case-control study in Han Chinese


[PMID 17786212OA-icon.png] Heterogeneity in meta-analyses of genome-wide association investigations.


[PMID 17928989] Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.


[PMID 18210030] Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.


[PMID 18426861OA-icon.png] Association analysis of type 2 diabetes Loci in type 1 diabetes.


[PMID 18469204OA-icon.png] 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 18633108OA-icon.png] 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 18835935OA-icon.png] Genome-wide linkage scan in Gullah-speaking African American families with type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR).


[PMID 19002430] 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 19008344OA-icon.png] 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 19279076OA-icon.png] Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.


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


[PMID 19455305OA-icon.png] No association of multiple type 2 diabetes loci with type 1 diabetes.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19750184OA-icon.png] Genome-wide association studies for atherosclerotic vascular disease and its risk factors.


[PMID 19862325OA-icon.png] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.


[PMID 20080751OA-icon.png] Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.


[PMID 20580033] Replication of recently described type 2 diabetes gene variants in a South Indian population.


[PMID 21278902OA-icon.png] Genetic risk profiling for prediction of type 2 diabetes.


[PMID 21368910OA-icon.png] Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.


[PMID 21416855] [Relationship of the CDKAL1 and KCNQ1 gene polymorphisms to the age at diagnosis of type 2 diabetes in the Slovakian population].


[PMID 22119613] Replication study of common variants in CDKAL1 and CDKN2A/2B genes associated with type 2 diabetes in Lebanese Arab population.


[PMID 22292718] Variation in CDKAL1 gene is associated with therapeutic response to sulphonylureas.


GET Evidence
rs7756992
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.476562
summary



[PMID 23990951OA-icon.png] Association of genetic variants with isolated fasting hyperglycaemia and isolated postprandial hyperglycaemia in a han chinese population


[PMID 24468095] Genetic variants for type 2 diabetes and new-onset cancer in Chinese with type 2 diabetes

GWAS snp
PMID [PMID 24509480OA-icon.png]
Trait Type 2 diabetes
Title Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
Risk Allele G
P-val 2E-26
Odds Ratio 1.20 [1.16-1.25]


[PMID 25634229OA-icon.png] A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and levels of non-coding RNA, CDKAL1-v1


ClinVar
Risk rs7756992(G;G)
Alt rs7756992(G;G)
Reference rs7756992(A;A)
Significance Unknown
Disease Diabetes mellitus type 2
Variation info
Gene CDKAL1
CLNDBN Diabetes mellitus type 2
Reversed 0
HGVS NC_000006.11:g.20679709A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001038.5,