We analyzed associations of single nucleotide polymorphisms rsl13004520 (R247T), rs11562975 (L250L), rs7593557 (S419N), rs11563208 (I1016I), and rs11563071 (V1058V) of the cold receptor TRPM8 (2q37.1) gene with blood plasma lipids and anthropometric parameters in Russian population (randomly chosen residents of Novosibirsk: 507 women and 459 men, mean age 57 years). The studied polymorphisms are localized in regions encoding NH2-terminal (R247T, L250L, S419N) and COOH-terminal (I1016I, V1058V) cytoplasmic domains of the channel. We showed association of single nucleotide polymorphism V1058V with the levels of total cholesterol and LDL and HDL cholesterol, and association of I1016I polymorphism with triglyceride content. Polymorphisms L250L and S419N correlated with anthropometric parameters (body mass index and waist and hip circumferences).
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Translated from Byulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 157, No. 6, pp. 728-732, June, 2014
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Potapova, T.A., Babenko, V.N., Kobzev, V.F. et al. Associations of Cold Receptor TRPM8 Gene Single Nucleotide Polymorphism with Blood Lipids and Anthropometric Parameters in Russian Population. Bull Exp Biol Med 157, 757–761 (2014). https://doi.org/10.1007/s10517-014-2660-4
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DOI: https://doi.org/10.1007/s10517-014-2660-4