Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, UP, India.
Am J Reprod Immunol. 2010 Sep;64(3):172-8. doi: 10.1111/j.1600-0897.2010.00884.x.
the role of apolipoprotein E gene polymorphisms in the etiology of recurrent pregnancy loss (RPL) is not clearly understood. We evaluated this polymorphism in unexplained pregnancy losses among North Indian women.
in a retrospective case–control study, 200 well-characterized RPL cases were examined for their APO-E genotypes based on restriction fragment length polymorphism analysis of PCR-amplified fragments including amino acid positions 112 and 158. The observed genotypes were compared with those obtained from an equal number of ethnically matched negative controls.
we found similar APO-E genotypes and E2, E3, and E4 allele frequency distribution among RPL patients and controls. The allele frequencies obtained in patients and controls respectively were as follows:E2 = 7.5% and 9.0% (P = 0.52; OR = 0.81; 95%CI = 0.49–1.35),E3 = 89.7% and 90% (P = 1.00; OR = 0.97; 95%CI = 0.61–1.54), and E4 = 2.8% and 1% (P = 0.12; OR = 2.79; 95%CI = 0.88–8.86).
our data did not support the association of APO-E gene polymorphisms with recurrent pregnancy loss as reported by some of the previous studies.We endorse adequate characterization of RPL cases, inclusion of appropriate negative controls, and adequate sample size prior to addressing such studies.
载脂蛋白 E 基因多态性在复发性妊娠丢失（RPL）的病因中的作用尚不清楚。我们评估了这种多态性在北印度妇女不明原因妊娠丢失中的作用。
在一项回顾性病例对照研究中，对 200 例特征明确的 RPL 病例进行了 APO-E 基因型检测，方法是基于 PCR 扩增片段的限制性片段长度多态性分析，包括氨基酸位置 112 和 158。观察到的基因型与来自相同数量的种族匹配的阴性对照的基因型进行了比较。
我们发现 RPL 患者和对照组的 APO-E 基因型和 E2、E3 和 E4 等位基因频率分布相似。患者和对照组分别获得的等位基因频率如下：E2 = 7.5%和 9.0%（P = 0.52；OR = 0.81；95%CI = 0.49–1.35），E3 = 89.7%和 90%（P = 1.00；OR = 0.97；95%CI = 0.61–1.54），E4 = 2.8%和 1%（P = 0.12；OR = 2.79；95%CI = 0.88–8.86）。
我们的数据不支持 APO-E 基因多态性与一些先前研究报道的复发性妊娠丢失之间的关联。我们支持在进行此类研究之前，对 RPL 病例进行充分的特征描述、纳入适当的阴性对照和足够的样本量。
