Shuai Meng1, Shuang-tao He1, Wen-juan Jiang1, Ling Xiao1, Dan-feng Li1, Jian Xu1, Xiao-hong Shi1, Jin-an Zhang2. 1. Department of Endocrinology, Jinshan Hospital of Fudan University, 1508, Longhang Road, Shanghai 201508, China. 2. Department of Endocrinology, Jinshan Hospital of Fudan University, 1508, Longhang Road, Shanghai 201508, China. Electronic address: zhangjinan@hotmail.com.
Abstract
PURPOSE: Previous studies have found that some immune-related genes were associated with autoimmune thyroid diseases (AITDs). A couple of studies have explored the association between vitamin D (1,25-dihydroxyvitamin D3) receptor (VDR) gene polymorphisms and susceptibility to AITDs in different populations and found conflicting results. This case-control study was designed to evaluate the role of polymorphisms of VDR gene in the predisposition of AITDs in a Chinese Han population. METHODS: A total of 417 patients with Graves' disease (GD), 250 patients with Hashimoto's thyroiditis (HT) and 301 healthy subjects were enrolled. The Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform was applied to detect four SNPs (rs1544410, rs2228570, rs731236 and rs7975232) in the VDR gene. RESULTS: In the rs7975232 allele A frequency showed a significant increase in GD patients (30.34% vs. 25.42% in controls; P=0.041, OR=1.278, 95%CI=1.010-1.617). However, no relationship was found between clinical phenotypes and the four SNPs. CONCLUSIONS: This result suggests that the VDR gene may be one susceptibility gene which contributes to the risk of GD.
PURPOSE: Previous studies have found that some immune-related genes were associated with autoimmune thyroid diseases (AITDs). A couple of studies have explored the association between vitamin D (1,25-dihydroxyvitamin D3) receptor (VDR) gene polymorphisms and susceptibility to AITDs in different populations and found conflicting results. This case-control study was designed to evaluate the role of polymorphisms of VDR gene in the predisposition of AITDs in a Chinese Han population. METHODS: A total of 417 patients with Graves' disease (GD), 250 patients with Hashimoto's thyroiditis (HT) and 301 healthy subjects were enrolled. The Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform was applied to detect four SNPs (rs1544410, rs2228570, rs731236 and rs7975232) in the VDR gene. RESULTS: In the rs7975232 allele A frequency showed a significant increase in GDpatients (30.34% vs. 25.42% in controls; P=0.041, OR=1.278, 95%CI=1.010-1.617). However, no relationship was found between clinical phenotypes and the four SNPs. CONCLUSIONS: This result suggests that the VDR gene may be one susceptibility gene which contributes to the risk of GD.
Authors: D Gallo; L Mortara; M B Gariboldi; S A M Cattaneo; S Rosetti; L Gentile; D M Noonan; P Premoli; C Cusini; M L Tanda; L Bartalena; E Piantanida Journal: J Endocrinol Invest Date: 2019-10-04 Impact factor: 5.467