Open AccessPolymorphism of some genes of bone tissue metabolism (VDR Bsm1 c.IVS7G>A, LCT 13910 T>C, COL1A 12046 G->T) among the representatives of Russian and Buryat nationalities
Author(s) -
Svetlana V. Verkhoturova,
Верхотурова Светлана Валерьевна,
Svetlana U. Tsarenok,
Царенок Светлана Юрьевна,
В. В. Горбунов,
Горбунов Владимир Владимирович,
Tatyana A. Aksenova,
Аксёнова Татьяна Александровна
Publication year - 2017
Publication title -
osteoporoz i osteopatii
Language(s) - English
Resource type - Journals
eISSN - 2311-0716
pISSN - 2072-2680
DOI - 10.14341/osteo201713-6
Subject(s) - genotype , allele , gene polymorphism , genotype frequency , calcitriol receptor , population , allele frequency , medicine , genetics , gene , polymorphism (computer science) , biology , demography , sociology
Aim: to study the frequency of genotypes of the polymorphous markers of bone remodeling (vita-min D receptor gene Bsm1 c.IVS7G> A, the lactase gene LCT 13910 T> C and collagen gene COL1A 12046 G-> T) in healthy people and patients with osteopo-rosis (OP) among the indigenous population of Trans-baikalia of Russian and Buryat nationalities.
Methods: 97 women with OP were examined: 49 Russian and 48 Buryat women aged from 50 to 80 years. 123 healthy women of the same age group were included in the control group. DNA sam-ples for molecular genetic analysis were taken from peripheral venous blood.
Results: The recessive allele A of the VDR – Bsm1c.IVS7G> A polymorphism was accumulated in women of Buryat nationality, but the statistical significance was not observed (OR = 1.04, CI [0 68, 1.6]). C al-lele of LCT -13910 T> C polymorphism was associated with the development of OP among the representa-tives of Buryat nationality.
Conclusion: The gene allele VDR Bsm1 c.IVS7G> Aand the LCT -13910 T>C leads to a higher risk of OP in women of Buryat nationality. The genotypes G/Tand T/T of COL1A12046 G-> T are associated with the development of OP in people of both nationalities.