rs7754840
| risk for type-2 diabetes |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | 1.3x increased risk for type-2 diabetes |
| (C;G) | 3 | 1.3x increased risk for type-2 diabetes |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 20661019 |
| Gene | CDKAL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7754840 |
| dbSNP (classic) | rs7754840 |
| ClinGen | rs7754840 |
| ebi | rs7754840 |
| HLI | rs7754840 |
| Exac | rs7754840 |
| Gnomad | rs7754840 |
| Varsome | rs7754840 |
| LitVar | rs7754840 |
| Map | rs7754840 |
| PheGenI | rs7754840 |
| Biobank | rs7754840 |
| 1000 genomes | rs7754840 |
| hgdp | rs7754840 |
| ensembl | rs7754840 |
| geneview | rs7754840 |
| scholar | rs7754840 |
| rs7754840 | |
| pharmgkb | rs7754840 |
| gwascentral | rs7754840 |
| openSNP | rs7754840 |
| 23andMe | rs7754840 |
| SNPshot | rs7754840 |
| SNPdbe | rs7754840 |
| MSV3d | rs7754840 |
| GWAS Ctlg | rs7754840 |
| GMAF | 0.4068 |
| Max Magnitude | 3 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
The accuracy of claims about this snp are called into question by table 1 of 10.1371/journal.pbio.1000294
[PMID 21233721] discusses the process of including this snp into Coriell and raises some doubt about the value of its inclusion.
[PMID 18477659] rs7754840 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.28 (CI: 1.17-1.41, p = 4.5 x 10e-7)
[PMID 18285412] type-2 diabetes Carriers of the (C;G) and (C;C) genotypes of rs7754840 had 11% and 24% lower first-phase insulin release in an IVGTT compared to that in carriers of the (G;G) genotype (P=0.002). The C allele was also associated with higher glucose area under the curve in an OGTT (P=0.016).
[PMID 18516622] rs7754840 type-2 diabetes Ashkenazi Jewish population shows an even stronger effect for rs7754840 than the general Caucasian population, based on 1,131 cases versus 1,147 controls.
[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 | |
|---|---|
| SNP | rs7754840 |
| PubMedID | [PMID 17463248]
|
| Condition | Type 2 diabetes |
| Gene | CDKAL1 |
| Risk Allele | C |
| pValue | 4.00E-011 |
| OR | 1.12 |
| 95% CI | 1.08-1.16 |
[PMID 19258437] A Genetic Variant in the IGF2BP2 Gene may Interact with Fetal Malnutrition on Glucose Metabolism.
| GWAS snp | |
|---|---|
| PMID | [PMID 17463246] |
| Trait | Type 2 diabetes |
| Title | Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels |
| Risk Allele | C |
| P-val | 3.9999999999999998E-11 |
| Odds Ratio | 1.12 [1.08-1.16] |
[PMID 20802253] Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion
[PMID 21643948] Replication study of novel risk variants in six genes with type 2 diabetes and related quantitative traits in the Han Chinese lean individuals
[PMID 22096510] Association of six single nucleotide polymorphisms with gestational diabetes mellitus in a chinese population
[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 22233651] A Genome-Wide Association Study of Gestational Diabetes Mellitus in Korean Women
[PMID 22419714] Effect of Type 2 Diabetes Predisposing Genetic Variants on Colorectal Cancer Risk
[PMID 17786212] Heterogeneity in meta-analyses of genome-wide association investigations.
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 18264689] Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion.
[PMID 18423522] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.
[PMID 18426861] Association analysis of type 2 diabetes Loci in type 1 diabetes.
[PMID 18443202] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.
[PMID 18461161] Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.
[PMID 18469204] 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 18544707] Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.
[PMID 18598350] Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk.
[PMID 18633108] 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 18689899] Exchangeable models of complex inherited diseases.
[PMID 18694974] Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
[PMID 18714373] Novel meta-analysis-derived type 2 diabetes risk loci do not determine prediabetic phenotypes.
[PMID 18782870] Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.
[PMID 18985156] Variance of the SGK1 gene is associated with insulin secretion in different European populations: results from the TUEF, EUGENE2, and METSIM studies.
[PMID 18991055] Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.
[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 19008344] 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 19020323] Genotype score in addition to common risk factors for prediction of type 2 diabetes.
[PMID 19088850] Polymorphisms within the novel type 2 diabetes risk locus MTNR1B determine beta-cell function.
[PMID 19172244] The risk allele load accelerates the age-dependent decline in beta cell function.
[PMID 19324937] Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.
[PMID 19341491] Genome-based prediction of common diseases: methodological considerations for future research.
[PMID 19366866] Association of type 2 diabetes candidate polymorphisms in KCNQ1 with incretin and insulin secretion.
[PMID 19401414] Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
[PMID 19460916] Genetic architecture of type 2 diabetes: recent progress and clinical implications.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19502414] Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.
[PMID 19615048] Type 2 diabetes gene TCF7L2 polymorphism is not associated with fetal and postnatal growth in two birth cohort studies.
[PMID 19789630] Variant near ADAMTS9 known to associate with type 2 diabetes is related to insulin resistance in offspring of type 2 diabetes patients--EUGENE2 study.
[PMID 19862325] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
[PMID 19956539] How many genetic variants remain to be discovered?
[PMID 20017978] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.
[PMID 20043853] Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.
[PMID 20049090] Association between type 2 diabetes loci and measures of fatness.
[PMID 20080751] Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
[PMID 20126254] Rare variants create synthetic genome-wide associations.
[PMID 20144327] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.
[PMID 20532014] The epidemiology of diabetes in Korea: from the economics to genetics.
[PMID 20580033] Replication of recently described type 2 diabetes gene variants in a South Indian population.
[PMID 20712903] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
[PMID 21278902] Genetic risk profiling for prediction of type 2 diabetes.
[PMID 21283728] Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.
[PMID 22119613] Replication study of common variants in CDKAL1 and CDKN2A/2B genes associated with type 2 diabetes in Lebanese Arab population.
[PMID 23029294] Meta-analysis of the relationship between common type 2 diabetes risk gene variants with gestational diabetes mellitus
| GWAS snp | |
|---|---|
| PMID | [PMID 22961080]
|
| Trait | Type 2 diabetes |
| Title | A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. |
| Risk Allele | C |
| P-val | 7E-10 |
| Odds Ratio | 1.35 [1.23-1.48] |
[PMID 23690305] Genetic variants and the risk of gestational diabetes mellitus: a systematic review
[PMID 24112421] CDKAL1 and HHEX are associated with type-2 diabetes-related traits among Yup'ik people
[PMID 22438186] A SNP in G6PC2 predicts insulin secretion in type 1 diabetes
[PMID 22923468] Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.
[PMID 23458876] ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.
[PMID 23462794] Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.
| GWAS snp | |
|---|---|
| PMID | [PMID 23945395] |
| Trait | Type 2 diabetes |
| Title | Genome-wide association study identifies three novel loci for type 2 diabetes. |
| Risk Allele | C |
| P-val | 2E-13 |
| Odds Ratio | 1.18 [1.13-1.23] |
[PMID 25755232] Habitual coffee intake, genetic polymorphisms, and type 2 diabetes
[PMID 25785549] The Uyghur Population and Genetic Susceptibility to Type 2 Diabetes: Potential Role for Variants in CDKAL1, JAZF1, and IGF1 Genes
[PMID 25789271] Significance of a common variant in the CDKAL1 gene with susceptibility to type 2 diabetes mellitus in Iranian population
[PMID 28072873] Association Study with 77 SNPs Confirms the Robust Role for the rs10830963/G of MTNR1B Variant and Identifies Two Novel Associations in Gestational Diabetes Mellitus Development.
[PMID 29544538] Variants of CDKAL1 rs7754840 (G/C) and CDKN2A/2B rs10811661 (C/T) with gestational diabetes: insignificant association.
[PMID 32228543] Obesity-related loci in TMEM18, CDKAL1 and FAIM2 are associated with obesity and type 2 diabetes in Chinese Han patients.
