GPER1基因中的Rs4265085增加了中国傣族和白族不明原因复发性自然流产的风险。
Rs4265085 in GPER1 gene increases the risk for unexplained recurrent spontaneous abortion in Dai and Bai ethnic groups in China.
作者信息
Tang Liang, Zheng Shui, Wang Yan, Li Fang, Bao Meihua, Zeng Jie, Xiang Ju, Luo Huaiqing, Li Jianming
机构信息
Department of Human Anatomy, Histology and Embryology, Institute of Neuroscience, Changsha Medical University, Changsha, China; School of Basic Medical Science, Changsha Medical University, Changsha, China.
Key Laboratory for Fertility Regulation and Berth Heath of Minority Nationalities of Yunnan Province, Judicial Expertise Center, Yunnan Population and Family Planning Research Institute, Kunming, China.
出版信息
Reprod Biomed Online. 2017 Apr;34(4):399-405. doi: 10.1016/j.rbmo.2017.01.005. Epub 2017 Jan 17.
Oestrogen receptors are implicated in the pathogenesis of recurrent spontaneous abortion (RSA). Non-genomic oestrogen responses can be mediated by GPER. The prevalence of polymorphisms in GPER1 gene in RSA was assessed in 747 Chinese women from Yunnan province (171 Bai, 258 Chinese Han, 234 Dai, 33 Achang and 51 Jingpo patients). Snapshot technology was used for genotyping the polymorphisms of the GPER1 gene. The rs4265085G was significantly increased in the Dai and Bai groups versus controls (Dai: P < 0.0001, P < 0.0001, OR 95% CI 2.34 [1.79 to 3.05]; Bai: P = 0.0004, P = 0.0012, OR 95% CI 1.71 [1.27 to 2.31]); recessive model of rs4265085 in the Dai (P = 0.003, P = 0.009, OR 95% CI 2.71 [1.38 to 5.30]); Bai (P < 0.0001, P < 0.0001, OR 95% CI 3.37 [1.93 to 5.91]). Haplotype frequencies containing rs10269151G-rs4265085G-rs11544331C were separately significantly different in Dai and Bai ethnic groups (Dai: P = 0.0002, P = 0.001, OR 95% CI = 2.12 [1.43 to 3.17]; Bai: P = 0.005, P = 0.025, OR 95% CI = 1.82 [1.18 to 2.78]) compared with controls. The intron variant rs4265085 may confer risk for RSA in Dai and Bai ethnic groups.
雌激素受体与复发性自然流产（RSA）的发病机制有关。非基因组雌激素反应可由G蛋白偶联雌激素受体（GPER）介导。本研究评估了云南省747名中国女性（171名白族、258名汉族、234名傣族、33名阿昌族和51名景颇族患者）中GPER1基因多态性的患病率。采用分型技术对GPER1基因的多态性进行基因分型。与对照组相比，傣族和白族组中rs4265085G显著增加（傣族：P<0.0001，P<0.0001，OR 95%CI 2.34[1.79至3.05]；白族：P=0.0004，P=0.0012，OR 95%CI 1.71[1.27至2.31]）；rs4265085在傣族中的隐性模型（P=0.003，P=0.009，OR 95%CI 2.71[1.38至5.30]）；白族（P<0.0001，P<0.0001，OR 95%CI 3.37[1.93至5.91]）。含有rs10269151G-rs4265085G-rs11544331C的单倍型频率在傣族和白族群体中分别与对照组有显著差异（傣族：P=0.0002，P=0.001，OR 95%CI=2.12[1.43至3.17]；白族：P=0.005，P=0.025，OR 95%CI=1.82[1.18至2.78]）。内含子变体rs4265085可能使傣族和白族群体患RSA的风险增加。
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