Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, 500 016, India.
Government Modern Maternity Hospital, Petlaburz, Hyderabad, India.
J Assist Reprod Genet. 2019 May;36(5):979-988. doi: 10.1007/s10815-019-01431-y. Epub 2019 Mar 15.
The study estimates the association of VEGF gene polymorphism (-1154 G/A, -2549 I/D, -2578 C/A, and +936 C/T) in recurrent pregnancy loss from South Indian population.
A total of 100 couples with the history of recurrent pregnancy loss and 100 couples with medically terminated pregnancies were considered. Fetal tissues with < 20 weeks of gestation including peripheral blood from case and control couples were collected. VEGF gene polymorphisms were determined by allele-specific polymerase chain reaction. Genotypic distribution and allele frequencies were evaluated by odds ratio with 95% confidence intervals. Haplotype analysis was done to determine the association of specific haplotypes with recurrent pregnancy loss.
The VEGF -1154 G/A polymorphism was significantly prevalent in the aborted fetuses and in their mothers whereas -2549 I/D polymorphism was significantly higher in the aborted fetuses while the + 936 C/T polymorphism showed prevalence in the case mothers revealing their statistically significant association to recurrent pregnancy loss. ADAT haplotype showed an increased risk in case fetuses and mothers whereas ADCC, in case mothers and fathers while haplotype GIAC found a protective association in the case fetuses compared to controls.
This is the first report of family-based triad study revealing a significant association of VEGF gene polymorphism in the etiology of recurrent pregnancy loss.
本研究旨在评估印度南部人群中 VEGF 基因多态性（-1154G/A、-2549I/D、-2578C/A 和 +936C/T）与复发性妊娠丢失的相关性。
共纳入 100 对有复发性妊娠丢失史的夫妇和 100 对因医学原因终止妊娠的夫妇。采集病例和对照组夫妇妊娠<20 周的胎儿组织及外周血。采用等位基因特异性聚合酶链反应法检测 VEGF 基因多态性。通过比值比及其 95%置信区间评估基因型分布和等位基因频率。进行单体型分析以确定特定单体型与复发性妊娠丢失的相关性。
VEGF-1154G/A 多态性在流产胎儿及其母亲中明显更为常见，而-2549I/D 多态性在流产胎儿中更为常见，而+936C/T 多态性在病例母亲中更为常见，提示其与复发性妊娠丢失具有统计学显著相关性。ADAT 单体型在病例胎儿及其母亲中显示出更高的风险，而 ADCC 在病例母亲及其父亲中更为常见，而 GIAC 单体型在病例胎儿中发现与对照组相比具有保护相关性。
这是首例基于家庭的三联体研究报道，揭示了 VEGF 基因多态性在复发性妊娠丢失发病机制中的显著相关性。
