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Rs10811661

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Geno Mag Summary
(C;C) 0 normal
(C;T) 2 1.2x increased risk for type-2 diabetes
(T;T) 2.1 1.2x increased risk for type-2 diabetes
ReferenceGRCh38 38.1/141
Chromosome9
Position22134095
is asnp
is mentioned by
dbSNPrs10811661
PheGenIrs10811661
nextbiors10811661
hapmaprs10811661
1000 genomesrs10811661
hgdprs10811661
ensemblrs10811661
gopubmedrs10811661
geneviewrs10811661
scholarrs10811661
googlers10811661
pharmgkbrs10811661
gwascentralrs10811661
openSNPrs10811661
23andMers10811661
23andMe allrs10811661
SNP Nexus

SNPshotrs10811661
SNPdbers10811661
MSV3drs10811661
GMAF0.2062
Max Magnitude2.1
? (C;C) (C;T) (T;T) 28
[PMID 18477659] rs10811661 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 = 1.9 x 10e-6)

rs10811661 is mentioned in part 2 of a series

[PMID 18162508] significantly associated with type-2 diabetes p = 0.0024; in 1,630 Japanese subjects with type-2 diabetes and in 1,064 controls

[PMID 18437351] 1,638 type 2 diabetes patients and 1,858 controls

  • rs10811661 in the vicinity of CDKN2B (OR 1.20, 95% CI: 1.06-1.37, p = 0.004)

[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 18368387] Association between [r[s10811661]] and type-2 diabetes was replicated in a French Europid population, with an odds ratio of 1.43 (CI: 1.24-1.64, p = 3.8 x 10e-7).

[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).

Neighborrs1333049
Distance8591
GWAS
SNP rs10811661
PubMedID [PMID 17463249OA-icon.png]
Condition Type 2 diabetes
Gene CDKN2A/B
Risk Allele T
pValue 8.00E-015
OR 1.2
95% CI 1.14-1.25


[PMID 19258437OA-icon.png] A Genetic Variant in the IGF2BP2 Gene may Interact with Fetal Malnutrition on Glucose Metabolism.

GWAS snp
PMID [PMID 19056611OA-icon.png]
Trait Type 2 diabetes
Title Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data
Risk Allele
P-val 7E-7
Odds Ratio 1.26 [1.15-1.38]
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 T
P-val 8.0000000000000006E-15
Odds Ratio 1.20 [1.14-1.25]
GWAS snp
PMID [PMID 17463248OA-icon.png]
Trait Type 2 diabetes
Title A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
Risk Allele T
P-val 8.0000000000000006E-15
Odds Ratio 1.20 [1.14-1.25]

[PMID 19463184OA-icon.png] Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart disease

OMIM125853
DescDIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
Variant
Relatedalso
OMIM611891
DescAORTIC ANEURYSM, FAMILIAL ABDOMINAL 3
Variant
Relatedalso
OMIM611892
DescANEURYSM, INTRACRANIAL BERRY, 6
Variant
Relatedalso
OMIM600160
DescCYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A
Variant
Relatedalso
OMIM600431
DescCYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B
Variant
Relatedalso
[PMID 20018066OA-icon.png] Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study

[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 20802253OA-icon.png] Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion










[PMID 21315566] Type 2 diabetes and polymorphisms on chromosome 9p21: A meta-analysis


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


[PMID 22569928OA-icon.png] Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus


[PMID 22623142] Association between type 2 diabetes and rs10811661 polymorphism upstream of CDKN2A/B: a meta-analysis


[PMID 22643932] SNP in the genome-wide association study hotspot on chromosome 9p21 confers susceptibility to diabetic nephropathy in type 1 diabetes


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


[PMID 17827400] Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies.


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


[PMID 18176561] The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.


[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 18224336OA-icon.png] Haplotypic analysis of Wellcome Trust Case Control Consortium data.


[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 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 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.


[PMID 18565990OA-icon.png] Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.


[PMID 18591388OA-icon.png] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.


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


[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 19019192] Association of genetic variation on chromosome 9p21.3 and arterial stiffness.


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


[PMID 19033589OA-icon.png] Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetes.


[PMID 19096518OA-icon.png] Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.


[PMID 19207020OA-icon.png] Meta-analysis in genome-wide association studies.


[PMID 19214202OA-icon.png] Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis.


[PMID 19228808OA-icon.png] Type 2 diabetes risk alleles are associated with reduced size at birth.


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


[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 19329499OA-icon.png] A genetic variant on chromosome 9p21 and incident heart failure in the ARIC study.


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


[PMID 19343170OA-icon.png] INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis.


[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 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 19526209OA-icon.png] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?


[PMID 19602701OA-icon.png] Underlying genetic models of inheritance in established type 2 diabetes associations.


[PMID 19741467] Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.


[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 19931040OA-icon.png] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.


[PMID 19956108OA-icon.png] Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.


[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 20075150OA-icon.png] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.


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


[PMID 20161033OA-icon.png] Personalized pharmacotherapy for Type 2 diabetes mellitus.


[PMID 20161779OA-icon.png] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.


[PMID 20386740OA-icon.png] Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.


[PMID 20403154OA-icon.png] Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population.


[PMID 20424228OA-icon.png] Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians.


[PMID 20509872OA-icon.png] Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.


[PMID 20532014OA-icon.png] The epidemiology of diabetes in Korea: from the economics to genetics.


[PMID 20550665OA-icon.png] Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese 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 21234743] Glucose tolerance, insulin sensitivity and insulin release in European non-diabetic carriers of a polymorphism upstream of CDKN2A and CDKN2B.


[PMID 21270277OA-icon.png] The same chromosome 9p21.3 locus is associated with type 2 diabetes and coronary artery disease in a Chinese Han population.


[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 21625859] Association between type 2 diabetes and CDKN2A/B: a meta-analysis study.


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


[PMID 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.

GWAS snp
PMID [PMID 22581228OA-icon.png]
Trait
Title A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Risk Allele
P-val 0.000007
Odds Ratio None None


[PMID 22676277] Vascular associated gene variants in patients with preeclampsia: results from the Danish National Birth Cohort


GET Evidence
rs10811661
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.150794
summary



[PMID 23134948OA-icon.png] Association between 9p21 genetic variants and mortality risk in a prospective cohort of patients with type 2 diabetes (ZODIAC-15)


[PMID 22923468OA-icon.png] Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.


[PMID 23298195] Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk and diabetic nephropathy in the Chinese She population.


[PMID 23458876] ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.


[PMID 23532257OA-icon.png] Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4.