Analysis of BMP4 (rs121912765) polymorphism in Iranian women with history of recurrent spontaneous abortion: A case-control study.

Recurrent spontaneous abortion (RSA) defines as the consecutive loss of at least two pregnancies prior to the 20th week of gestation. A qualitative diagnosis of infertility can only be performed by focusing on female and male physical abnormalities, endocrine irregularities and genetic conditions. The aim of the present study was to evaluate the association between a common polymorphism of bone morphogenetic protein 4 ( BMP4 ) (rs121912765; 278A>G) with female infertility. At present there is a lack of data on the relevance of BMP4 polymorphism to spontaneous abortion among Iranian subjects. In the present case-control study, the BMP4 (rs121912765) polymorphism was investigated in 70 infertile women and 100 healthy subjects from Iran by polymerase chain reaction-restriction fragment length polymorphism analysis. Odds ratios (ORs) and 95% confidence intervals (CIs) for the association between BMP4 (rs121912765) polymorphism and risk of recurrent abortion risk in Iranian women were determined using binary logistic regression, and the genotype and allele frequencies were compared using the χ2 test. Results indicated significant association between the rs121912765 polymorphism and recurrent spontaneous abortion. The χ2 test indicated that the allele frequencies differed (OR=0.071, 95%CI=0.022-0.181; P<0.0001), with the A allele appearing more prevalent in the case samples. Therefore, this polymorphism may be a useful genetic marker for diagnosing female infertility in the context of RSA. The study of such a polymorphism can provide an important basis for targeting interventions and prevention in high-risk individuals. Therefore, further studies are necessary to establish the association of BMP4 (rs121912765) polymorphism in larger and more diverse populations.