Case-control study of a HLA-G 14-bp insertion-deletion polymorphism in women with recurrent miscarriages.

Human leucocyte antigen (HLA)-G is an important molecule for maintaining an immunotolerant foetal-maternal relationship. A 14-bp insertion (+14-bp)/deletion (-14-bp) polymorphism in exon 8 of the 3' untranslated region of the HLA-G gene has been proposed to be associated with HLA-G mRNA stability and the expression of HLA-G. This might play an immunomodulatory role in human pregnancy. In this study, a total of 526 Chinese women were genotyped for the +14-bp/-14-bp polymorphism, including 137 who had recurrent miscarriages (three miscarriages: 86, four or more miscarriages: 51), 138 women who had experienced two abortions and 251 women with normal fertility as controls. The +14-bp homozygote sequence was more prominent among those with recurrent miscarriages (three or more recurrent miscarriages) in contrast to fertile control women. Significant difference was observed in the distribution of +14-bp/+14-bp genotype between controls and the recurrent abortions group with four or more abortions. A 14-bp insertion/deletion polymorphism in exon 8 has a possible role in HLA-G expression in certain cases of recurrent miscarriage. However, additional studies are needed in this regard.