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rs7754840

来自SNPedia
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risk for type-2 diabetes
Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position20661019
GeneCDKAL1
is asnp
is mentioned by
dbSNPrs7754840
ebirs7754840
HLIrs7754840
Exacrs7754840
Varsomers7754840
Maprs7754840
PheGenIrs7754840
hapmaprs7754840
1000 genomesrs7754840
hgdprs7754840
ensemblrs7754840
gopubmedrs7754840
geneviewrs7754840
scholarrs7754840
googlers7754840
pharmgkbrs7754840
gwascentralrs7754840
openSNPrs7754840
23andMers7754840
23andMe allrs7754840
SNP Nexus

SNPshotrs7754840
SNPdbers7754840
MSV3drs7754840
GWAS Ctlgrs7754840
GMAF0.4068
Max Magnitude3
? (C;C) (C;G) (G;G) 28
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

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 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).

Neighborrs10946398
Distance216
GWAS
SNP rs7754840
PubMedID [PMID 17463248OA-icon.png]
Condition Type 2 diabetes
Gene CDKAL1
Risk Allele C
pValue 4.00E-011
OR 1.12
95% CI 1.08-1.16


[PMID 19258437OA-icon.png] 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]
OMIM611259
DescCDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1
Variant
Relatedalso
[PMID 20802253OA-icon.png] Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion




OMIM611259
Desc
Variant0001
Relatedalso


[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 22096510OA-icon.png] 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 22233651OA-icon.png] 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 17786212OA-icon.png] Heterogeneity in meta-analyses of genome-wide association investigations.


[PMID 18224312OA-icon.png] 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 18423522OA-icon.png] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.


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


[PMID 18443202OA-icon.png] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.


[PMID 18461161OA-icon.png] Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.


[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 18544707OA-icon.png] Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.


[PMID 18598350OA-icon.png] 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 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 18689899OA-icon.png] Exchangeable models of complex inherited diseases.


[PMID 18694974OA-icon.png] Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.


[PMID 18714373OA-icon.png] Novel meta-analysis-derived type 2 diabetes risk loci do not determine prediabetic phenotypes.


[PMID 18782870OA-icon.png] Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.


[PMID 18985156OA-icon.png] 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 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 19020323OA-icon.png] Genotype score in addition to common risk factors for prediction of type 2 diabetes.


[PMID 19088850OA-icon.png] 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 19324937OA-icon.png] 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 19341491OA-icon.png] Genome-based prediction of common diseases: methodological considerations for future research.


[PMID 19366866OA-icon.png] Association of type 2 diabetes candidate polymorphisms in KCNQ1 with incretin and insulin secretion.


[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 19460916OA-icon.png] Genetic architecture of type 2 diabetes: recent progress and clinical implications.


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


[PMID 19502414OA-icon.png] 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 19615048OA-icon.png] Type 2 diabetes gene TCF7L2 polymorphism is not associated with fetal and postnatal growth in two birth cohort studies.


[PMID 19789630OA-icon.png] 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 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 19956539OA-icon.png] How many genetic variants remain to be discovered?


[PMID 20017978OA-icon.png] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.


[PMID 20043853OA-icon.png] Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.


[PMID 20049090OA-icon.png] Association between type 2 diabetes loci and measures of fatness.


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


[PMID 20126254OA-icon.png] Rare variants create synthetic genome-wide associations.


[PMID 20144327OA-icon.png] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.


[PMID 20532014OA-icon.png] 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 20712903OA-icon.png] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.


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


[PMID 21283728OA-icon.png] 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.


GET Evidence
rs7754840
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.46875
summary



[PMID 23029294OA-icon.png] Meta-analysis of the relationship between common type 2 diabetes risk gene variants with gestational diabetes mellitus

GWAS snp
PMID [PMID 22961080OA-icon.png]
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 23690305OA-icon.png] Genetic variants and the risk of gestational diabetes mellitus: a systematic review


[PMID 24112421OA-icon.png] 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 22923468OA-icon.png] 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 23462794OA-icon.png] 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 25789271OA-icon.png] Significance of a common variant in the CDKAL1 gene with susceptibility to type 2 diabetes mellitus in Iranian population