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rs5215

Chromosome : 11 , Position: 17387083
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleC
Alternative Alleles:  T

Traits

Trait Variant Impact PMID Author (year)
Type 2 diabetes [EA] T
Nat Genet Zhao W (2017)
Body mass index T
Nat Genet Akiyama M (2017)
"Diabetes, varying definitions" T
Unknown journal FINNGEN_R5 (2021)
"Other diabetes, wide definition" T
Unknown journal FINNGEN_R5 (2021)
"Type 2 diabetes, definitions combined" T
Unknown journal FINNGEN_R5 (2021)
"Type 2 diabetes, definitions combined, including avohilmo" T
Unknown journal FINNGEN_R5 (2021)
"Type 2 diabetes, strict (exclude DM1)" T
Unknown journal FINNGEN_R5 (2021)
Circulating leptin levels or type 2 diabetes T
BMJ Open Diabetes Res Care Wang X (2020)
Diabetes mellitus T
Unknown journal FINNGEN_R5 (2021)
Psoriasis or type 2 diabetes (trans-disease meta-analysis) T
J Invest Dermatol Patrick MT (2020)
Type 2 diabetes T
Nat Commun Xue A (2018)
Type 2 diabetes (adjusted for BMI) T
Nat Genet Mahajan A (2018)
Type 2 diabetes [DGI+FUSION+WTCCC] T
Science Zeggini E (2007)
Type 2 diabetes with other specified/multiple/unspecified complications T
Unknown journal FINNGEN_R5 (2021)

Summary

The association between type-1 diabetes and rs5215 is mentioned as being replicated in [PMID 17554300]; there is also a 90% correlation between rs5215 and rs5219.





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


[PMID 20802253] Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion


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


[PMID 16733889] [Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population].


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


[PMID 18426861] Association analysis of type 2 diabetes Loci in type 1 diabetes.


[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.


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


[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 19096518] 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 19526209] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?


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


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


[PMID 20018041] The effect of multiple genetic variants in predicting the risk of type 2 diabetes.


[PMID 20018066] 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 20144327] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.


[PMID 20550665] Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.


[PMID 21573802] Association between KCNJ11 gene polymorphisms and risk of type 2 diabetes mellitus in East Asian populations: a meta-analysis in 42,573 individuals.


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




[PMID 22438186] A SNP in G6PC2 predicts insulin secretion in type 1 diabetes


[PMID 25247988] Population Specific Impact of Genetic Variants in KCNJ11 Gene to Type 2 Diabetes: A Case-Control and Meta-Analysis Study




[PMID 25755232] Habitual coffee intake, genetic polymorphisms, and type 2 diabetes

More Information

rs5215 is a SNP in the KCNJ11 gene. It is associated with ß-cell dysfunction and hence a genetic marker for type 2 diabetes (T2D).

A lower risk of prediabetes and type 2 diabetes combined with coffee intake was seen among individuals with the CC genotype in East Asians [R]. 

Population Alleles Frequency

ethhicity frequency
African/African-American 0.9132
Latino/Admixed American 0.6052
Ashkenazi Jewish 0.6552
East Asian 0.6372
European 0.6366
Other (population not assigned) 0.6103

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