PubMed 26841550

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Title: [The study of the association of polymorphism rs5219 gene KCNJ11 with obesity and the risk of type 2 diabetes among residents of the Moscow Region].

Authors: A K Baturin, E Yu Sorokina, A V Pogozheva, E V Peskova, O N Makurina, V A Tutelyan

Journal, date & volume: Vopr Pitan, 2015 , 84, 4-9

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The study involved 1,050 people living in the Moscow region, including 311 men and 739 women. Genotyping of KCNJ11 rs5219 polymorphisms was performed using allele-specific amplification, result detection in real time and using TaqMan-probes complementary to polymorphic DNA regions. Results of the study of KCN11 rs5219 gene polymorphism showed that 14.2% of the patients had TT genotype, 44.8%--CT genotype, 41.0%--CC genotype. The frequency of the mutant T alele was 36.6%, C allele--63.4%. The frequency of the T allele didn't significantly differ in individuals with obesity (BMI ≥ 30 kg/m2) and individuals with a BMI < 30 kg/m2 (38.8% and 35.7%, respectively), OR--1.14; CI (0.907-1.439), p = 0.26. At the same time, the amount of energy expenditure at rest, calculated per kg lean body weight, and serum content of uric acid in were significantly higher in individuals with KCNJ11 rs5219 polymorphism, both in homo-, and in the heterozygous type. The frequency of the T allele and TT genotype in patients with hyperglycemia was higher than in the comparison group. Genotype TT is associated with type 2 diabetes (OR = 2.35, CI: 1.018-5.43, p = 0.04).