Prevalence of HLA G-725c/g Gene Mutations Among Couples Experiencing Recurrent Spontaneous Abortions

Abstract

At the 2004 ASRM Annual Meeting, Dr. Ober described gene mutations within the HLA G locus that were associated with miscarriage. The current study was undertaken to determine the prevalence of HLA G gene mutations among couples experiencing unexplained recurrent abortion. Prospective observational study Blood was drawn from 50 individuals (25 couples) with a history of unexplained recurrent spontaneous abortion (RSA) for DNA analysis. None of the couples demonstrated anatomic, immunologic or thrombophilic risk factors contributing to their RSA. HLA G mutations were tested by DNA sequencing for the presence of HLA G 0105N, and -725C/G. The frequency of these HLA G mutations/polymorphisms was compared with 10 fertile couples. Eight of 25 couples experiencing RSA had at least one partner with a HLA G polymorphism at -725 compared with none of the control couples (P<0.05). Both partners were heterozygous for HLA G -725 in 6 out of 8 couples with RSA and in the remaining 2 couples one female and one male partner were heterozygous for HLA G -725. None of the individuals studied (patients or controls) displayed mutations to HLA G 0105N. HLA G -725 promoter polymorphism is a risk factor for RSA. Couples with a history of unexplained RSA should be tested for HLA G -724C/G.