Thean Hock Tang, Bogdanova Nadja, Kai Cheen Ang, Kathirgamanathan Sushilnathan, Bin Abdullah Ridzuan, Mohd Yusoff Narazah, Zaidah Abdullah Wan, Syima Abdul Manaf Faizatul, Wieacker Peter, Markoff Arseni
Advanced Medical and Dental Institute, Universiti Sains Malaysia, Penang, Malaysia.
Institute of Human Genetics, University of Muenster, Muenster, Germany.
Reprod Biomed Online. 2015 Apr;30(4):434-9. doi: 10.1016/j.rbmo.2014.12.014. Epub 2015 Jan 13.
Recurrent spontaneous abortion (RSA) is a prevalent condition among the Malay population of Malaysia, where carriage risk of conventional hereditary thrombophilia factors has been generally ruled out. The contribution of M2/ANXA5, a common haplotype in the annexin A5 gene promoter, was evalauted for RSA in Malay. Seventy-seven women who had experienced two or more unexplained RSA and 41 available male partners were selected for study, with 360 population controls recruited from healthy Malay individuals. Incidence of M2 carriage and odds ratios were calculated between control and patient groups, and clinically defined subgroups and RSA risk was evaluated. M2/ANXA5, found in 42.2% of the general Malay population, was associated with greater risks for women with primary and secondary RSA with early (gestational week 5-15) losses. The risk was somewhat higher in Malay couples when both partners were carriers and a trend of higher prevalence was seen for the male partners patients who had experienced RSA. M2 carriage seems to be a risk factor with unusually high incidence in Malay women and couples with primary and secondary RSA with 'early' spontaneous abortions. The associated male partner risk confirms the proposed role of M2/ANXA5 as a genetic trait impeding embryonic anticoagulation.
复发性自然流产(RSA)在马来西亚的马来人群中是一种普遍存在的情况,常规遗传性血栓形成倾向因素的携带风险通常已被排除。评估了膜联蛋白A5基因启动子中常见单倍型M2/ANXA5对马来人群RSA的影响。选择了77名经历过两次或更多次不明原因RSA的女性和41名可用的男性伴侣进行研究,并从健康的马来个体中招募了360名人群对照。计算了对照组和患者组之间M2携带的发生率和比值比,并评估了临床定义的亚组和RSA风险。在42.2%的马来普通人群中发现的M2/ANXA5与原发性和继发性RSA且早期(妊娠第5 - 15周)流产的女性的更高风险相关。当夫妻双方都是携带者时,马来夫妻的风险略高,并且在经历过RSA的男性伴侣患者中观察到患病率有更高的趋势。M2携带似乎是马来女性以及原发性和继发性RSA伴“早期”自然流产的夫妻中发病率异常高的一个风险因素。相关的男性伴侣风险证实了M2/ANXA5作为一种阻碍胚胎抗凝的遗传特征的作用。