GNA11 gene rs11084997 polymorphisms might be associated with risk of adult-onset non-surgical hypoparathyroidism
10.3760/cma.j.issn.0578-1426.2020.01.004
- VernacularTitle: GNA11基因rs11084997多态性与成年起病非手术性甲状旁腺功能减退症相关性
- Author:
Tingting QUAN
1
;
Min NIE
;
Yuepeng LI
;
Yabing WANG
;
Sixing CHEN
;
Yan JIANG
;
Mei LI
;
Weibo XIA
;
Ou WANG
;
Xiaoping XING
Author Information
1. Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Transformation Center, Key Laboratory of Endocrinology of National Health Commission, Beijing 100730, China (Quan Tingting is working on Department of Radiology, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangzhou 510060, China)
- Publication Type:Journal Article
- Keywords:
Hypoparathyroidism;
Adult-onset;
Non-surgical;
GNA11;
Single nucleotide polymorphism
- From:
Chinese Journal of Internal Medicine
2020;59(1):23-28
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the association of GNA11 gene polymorphisms with the risk of adult-onset non-surgical hypoparathyroidism (Ns-HypoPT).
Methods:Genotyping of GNA11 single nucleotide polymorphisms (SNPs) (rs28685098, rs4806907, rs11084997 and rs78003011) was carried out in 203 patients and 209 healthy participants by sequenom MassArray iPLEX System. These SNPs are located in promoter and 3′untranslated region (3′UTR) of GNA11 gene, respectively.
Results:Allele and genotype frequencies of rs11084997 in patients were significantly different from those of controls (genotype GG:60.5% vs. 49.8%, GC: 35.5% vs. 41.6%, CC: 4.0% vs. 8.6%, P=0.038; G allele 78.3% vs. 70.6%, C allele 21.7% vs. 29.4%, P=0.012), and the C allele of rs11084997 carriers had a lower risk to develops Ns-HypoPT in additive and dominant genetic models [OR=0.382 (0.160-0.915), 0.647 (0.437-0.957)]. CC-Haplotype formed by the minor alleles of rs4806907 and rs11084997 was associated with a decreased risk of Ns-HypoPT in additive, dominant and recessive genetic model [OR=0.317 (0.126-0.801), 0.640 (0.430-0.952), 0.367 (0.148-0.912)].
Conclusion:The minor allele C of rs11084997 in GNA11 gene promoter was associated with decreased risk of Ns-HypoPT in Chinese population.
