Division of Genetics, Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, 138 Sheng-Li Road, Tainan, Taiwan.
J Assist Reprod Genet. 2011 Mar;28(3):239-43. doi: 10.1007/s10815-010-9510-8. Epub 2010 Nov 18.
Recurrent pregnancy loss (RPL) could be caused by insufficient progesterone in the luteal phase of menstruation and early pregnancy. Progesterone plays a critical role in oocyte maturation, embryo implantation and placenta maintenance in early gestation. This study was set out to investigate the association between polymorphisms of the progesterone receptor (PGR) gene and idiopathic RPL.
One hundred twenty-one women with a history of idiopathic recurrent pregnancy loss (RPL) and 179 control subjects were enrolled into the study. Six tag SNPs and two functional SNPs [PROGINS (rs1042838), +331 C/T (rs10895068)] of the progesterone receptor gene were genotyped.
We found that the allele and genotype frequencies of the functional SNP [PROGINS (rs1042838)] were both significantly higher in patients with idiopathic RPL than in the control subjects (both P values = 0.006). In addition, the C-C haplotype, which consists of rs590688C > G and rs11224592T > C, is associated with a decreased risk of RPL (p = 0.004).
PROGINS polymorphism confers susceptibility to idiopathic recurrent pregnancy loss in Taiwanese Han women.
黄体期和早孕阶段孕激素不足可导致复发性流产（RPL）。孕激素在卵母细胞成熟、胚胎着床和妊娠早期胎盘维持中起关键作用。本研究旨在探讨孕激素受体（PGR）基因多态性与特发性 RPL 的关系。
本研究纳入 121 例特发性复发性流产（RPL）患者和 179 例对照。对孕激素受体基因的 6 个标签 SNP 和 2 个功能 SNP [PROGINS（rs1042838），+331 C/T（rs10895068）]进行基因分型。
我们发现，特发性 RPL 患者中功能 SNP [PROGINS（rs1042838）]的等位基因和基因型频率均显著高于对照组（均 P 值=0.006）。此外，由 rs590688C > G 和 rs11224592T > C 组成的 C-C 单倍型与 RPL 风险降低相关（p=0.004）。
PROGINS 多态性可增加台湾汉族妇女特发性复发性流产的易感性。
