Association of GNA11 gene polymorphisms with idiopathic hypoparathyroidism and its complications
- VernacularTitle:GNA11基因多态性与特发性甲状旁腺功能减退症及其并发症的关联
- Author:
Ting-Ting QUAN
1
;
Min NIE
;
Ya-Bing WANG
;
Yan JIANG
;
Mei LI
;
Wei-Bo XIA
;
Ou WANG
;
Xiao-Ping XING
Author Information
1. 中国医学科学院 北京协和医学院 北京协和医院 内分泌科 国家卫生和计划生育委员会内分泌重点实验室
- Keywords:
GNA11;
gene polymorphism;
idiopathic hypoparathyroidism;
complications
- From:
Basic & Clinical Medicine
2018;38(2):145-152
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the association of GNA 11 gene polymorphisms with idiopathic hypoparathyroidism (IHP) and its complications. Methods Two hundred and three patients with IHP and 209 control subjects were recruited at Peking Union Medical College Hospital from December 1987 to December 2015. 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 found 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). Conclusions The minor allele T of rs308060 in GNA11 means high risk of IHP, and is positively correlated with urinary calcium excretion in IHP patients after treatment with oral calcium and vitamin D analogs supplements.
