关键词: GNA11, 基因多态性, 特发性甲状旁腺功能减退症, 并发症

Abstract: Objective To investigate the association of GNA11 gene polymorphisms with idiopathic hypoparathyroidism (IHP) and its complications. Methods 203 patients with IHP and 209 healthy age- and sex-matched subjects were recruited at Peking Union Medical College Hospital from December 1987 to December 2015 as case group and control group, respectively. The GNA11 gene polymorphisms were selected and genotyped by Sequenom MassArray iPLEX System. Results The minor allele T of rs308060 was associated with an increased risk of IHP in the additive [OR=2.505 (1.005-6.245) , P<0.05; OR=3.269 (1.264-8.458) , P<0.05] and recessive model[OR=2.727 (1.105-6.727), P<0.05]. Although no significant difference was observed in the incidence of intracranial calcification and cataract in IHP patients, the haplotype CTCGCT consisting of minor allele T of rs308060 was correlated with their 24 hours urinary calcium levels (β=0.186，P<0.05). Conclusion The minor allele T of rs308060 in GNA11 gene might increase the risk of IHP, and was positively correlated with urinary calcium excretion in IHP patients after treatment with oral calcium and vitamin D analogs supplements.

Key words: GNA11, Gene polymorphism, Idiopathic hypoparathyroidism, Complications