KCNJ11

Gene name: potassium inwardly-rectifying channel, subfamily J, member 11
OMIM ID:
Chromosome location: 11p15.1

Polymorphisms

Disease/Phenotype	Diabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcript	NC_000011.8
DNA Change	g.17366148T>C
A.A. Change	E23K
Variation Type	substitution
Reference SNP	rs5219
Cases	1193 T2D cases
Controls	1055 normoglycaemic controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value T 27.7% 27.1% Dominant: 1.04 (0.86-1.26) 0.66
Comments	polymorphism not associated with type 2 diabetes in the Moroccan sample population
Reference	Cauchi S, Ezzidi I, El Achhab Y, Mtiraoui N, Chaieb L, Salah D, Nejjari C, Labrune Y, Yengo L, Beury D, Vaxillaire M, Mahjoub T, Chikri M, Froguel P.European genetic variants associated with type 2 diabetes in North African Arabs. Diabetes Metab. 2012 Mar 29.

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Disease/Phenotype	Diabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcript	NC_000011.8
DNA Change	g.17366148T>C
A.A. Change	E23K
Variation Type	substitution
Reference SNP	rs5219
Cases	250
Controls	250
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value E 80.44% 79% 1 K 19.56% 21% 0.90 (0.66-1.23) 0.52 EE 64.11% 63% 1 EK 32.66% 32% 1.29 (0.77-2.19) 0.327 KK 3.23% 5% 0.51 (0.17-1.57) 0.243 EK+KK 35.9% 37% 1.16 (0.71-1.89) 0.561
Reference	Benrahma H, Charoute H, Lasram K, Boulouiz R, Atig RK, Fakiri M, Rouba H, Abdelhak S, Barakat A.Association analysis of IGF2BP2, KCNJ11, and CDKAL1 polymorphisms with type 2 diabetes mellitus in a Moroccan population: a case-control study and meta-analysis. Biochem Genet. 2014 Oct;52(9-10):430-42.

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