CBS 844INS68 and MS D919G polymorphism: early pregnancy loss risk

Author(s): Rohini R. Nair, Anuradha Khanna, Kiran Singh*

Abstract

Cystathionine beta synthase (CBS) and Methionine synthase (MS) maintains the level of homocysteine in blood. Our objective was to study the genetic association of CBS 844ins68 and MS D919G polymorphism with early pregnancy loss (EPL) and Recurrent pregnancy loss (RPL). We investigated 174 EPL patients in which 130 were RPL patients and 180 healthy controls. Genotyping was done through PCR-RFLP for MS D919G polymorphism whereas that for CBS 844ins68 was performed in duplex PCR reaction. Age adjusted odds ratios (AORs) were calculated by logistic regression analysis. The CBS 844ins68 was found to have protective effect rather than having risk for RPL (AORs = 0.49, 95% CI=0.22-1.08, p=0.07). The MS D919G polymorphism also did not differ significantly between patients and controls. This is the first study to see the association of CBS and MS with EPL and more study in ethically different population is needed to confirm its association with EPL.

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