Quan T T, Nie M, Li Y P, Jiang Y, Li M, Xia W B, Meng X W, Xing X P, Wang O
Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Beijing 100730, China.
Zhonghua Yi Xue Za Zhi. 2017 Sep 26;97(36):2833-2838. doi: 10.3760/cma.j.issn.0376-2491.2017.36.011.
To explore the association of vitamin D receptor () gene polymorphisms with idiopathic hypoparathyroidism (IHP). Two hundred and three patients with IHP and 209 healthy age- and sex-matched subjects were recruited at Peking Union Medical College Hospital between December 1987 and December 2015 as case group and control group, respectively. The gene polymorphisms including rs739837, rs3847987 and rs2228570 were analyzed by Sequenom Mass Array. The frequency of different genotypes and alleles was detected, then their association with pathogenesis of IHP was analyzed. The clinical characteristics, biochemical indicators were collected to explore the genotype-phenotype relationship. The role of reactions to vitamin D treatment were compared between patients with different genotypes. There was no significant difference in the genotypes and allele frequency distribution of SNPs between the two groups (all >0.05). However, in the initially-treated patients, the genotypes of rs739837 were related to serum calcium level (=0.186, =0.026). And patients with GG genotype of rs2228750 had higher level of urine calcium than GA and AA (277.7 mg vs 141.1 mg, =0.024) after treating with oral vitamin D(3) and calcium. Functional SNPs of gene including rs739837, rs3847987 and rs2228570 might be irrelevant to the pathogenesis of IHP. But the genotypes of rs739837 were related to serum calcium level, and rs2228570 may have an effect on the different responses to vitamin D and its analogues in IHP patients.
探讨维生素D受体（VDR）基因多态性与特发性甲状旁腺功能减退症（IHP）的相关性。1987年12月至2015年12月期间，在北京协和医院分别招募了203例IHP患者和209例年龄及性别匹配的健康受试者作为病例组和对照组。采用Sequenom Mass Array技术分析VDR基因多态性，包括rs739837、rs3847987和rs2228570。检测不同基因型和等位基因的频率，分析其与IHP发病机制的相关性。收集临床特征、生化指标以探讨基因型与表型的关系。比较不同基因型患者对维生素D治疗反应的作用。两组间单核苷酸多态性（SNP）的基因型和等位基因频率分布无显著差异（均P>0.05）。然而，在初治患者中，rs739837的基因型与血清钙水平相关（P=0.186，P=0.026）。口服维生素D（3）和钙剂治疗后，rs2228750基因GG基因型患者的尿钙水平高于GA和AA基因型患者（277.7mg vs 141.1mg，P=0.024）。VDR基因的功能性SNP，包括rs739837、rs3847987和rs2228570可能与IHP的发病机制无关。但rs739837的基因型与血清钙水平相关，并可能对IHP患者对维生素D及其类似物的不同反应产生影响。
