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.
目的： 探索GNA11基因功能区域内单核苷酸多态性（SNP）位点与成年起病非手术性甲状旁腺功能减退症（甲旁减）发生的相关性。 方法： 纳入就诊于北京协和医院内分泌科门诊的成年起病非手术性甲旁减患者共203例作为病例组，年龄及性别匹配的209名健康人作为对照组，通过相关网页软件筛选出GNA11基因功能区域内的SNP位点共4个，包括rs28685098、rs4806907、rs11084997和rs78003011，分别位于基因启动子区及3′非编码区，并采用Sequenom MassArray iPLEX分型平台进行分型。 结果： 病例组与对照组rs11084997位点基因型及等位基因分布频率差异具有统计学意义（基因型GG 60.5%比49.8%，GC 35.5%比41.6%，CC 4.0%比8.6%，P=0.038；等位基因G 78.3%比70.6%，C 21.7%比29.4%，P=0.012），校正年龄、性别因素后发现rs11084997的少见等位基因C在加性及显性模型下非手术性甲旁减的发生风险较低[OR 0.382（0.160~0.915）；0.647（0.437~0.957）]，而由rs11084997与rs4806907位点的少见等位基因组成的CC单体型同样在加性、显性及隐性3种遗传模型下非手术性甲旁减的发生风险也较低[OR 0.317（0.126~0.801）；0.640（0.430~0.952）；0.367（0.148~0.912）]。 结论： 位于GNA11启动子内的rs11084997位点，携带其少见等位基因C者罹患非手术性甲旁减的风险可能较低。.
Keywords: Adult-onset; GNA11; Hypoparathyroidism; Non-surgical; Single nucleotide polymorphism.