Роль полиморфизма гена ядерного рецептора витамина D в формировании предрасположенности к развитию доброкачественных дисгормональных заболеваний молочных желез у женщин

Abstract

The study assessed an effect of polymorphism of Vitamin D nuclear receptor gene (Fok1 — Met1Thr, rs2228570) on a genetic predisposition to benign breast disease (BBD) and the level of circulating form of vitamin D. 258 women were examined: 134 women with BBD and 124 without breast pathologies. Genotyping of the VDR polymorphism, Fok1 (rs2228570) was carried out in 116 women with benign breast disease (81 cases of diffuse fibrocystic changes (DFC), 35 cases with fibroadenoma (FA) of the mammary glands) and 100 healthy women from the control group. It was shown that the polymorphism did not have a significant impact on the genetic predisposition to BBD, but, in patients with DFC, homozygotes of the T-minor allele were characterized by a statistically significant decrease in the level of vitamin D circulating form.