Positive association of C16069T, T16519C and T152C variants in D-loop of mitochondria with recurrent pregnancy loss in Iranian population

Recurrent pregnancy loss (RPL) is traditionally defined as three or more consecutive pregnancy losses before 20 weeks of gestation. In Iran, the incidence of recurrent miscarriage is about 3 to 4% of all pregnancies. Several genetic and non-genetic factors have been found to be associated with RPL. Mitochondria are intracellular organelles that have an important role in ATP production and apoptosis. However, a few studies have been performed to find the association between RPL and mitochondria. The identification of the genetic variants that confer risk for RPL is essential for the detection of individuals at high risk.In this study, we investigated the association of variations of D-loop with RPL. 24 appropriate cases and 463 female controls from different ethnicities (Fars- Kurds- Lurs-….) were selected. DNA was extracted from blood samples taken from participant. Genotyping were performed using direct sequencing of HV1&HV2 regions .Results was analyzed using SPSS version 15 software.The comparison of allele and genotype frequencies between cases and controls by Chi-square test revealed the T variant confer risk for the studied individual(C16069T , P-value <0.02)Our findings, is consistent with a report from the study of the two variants (T16519C, T152C) studied by Seyyed Hassani et al. According to the high mutation rate in D-loop and a regulatory role of this region, it seems that mutations in this region can disrupt cell survival. Therefore, these variants can be recommended as an additional factor for determining the risk of susceptibility to recurrent pregnancy losses.

Keywords:

Recurrent pregnancy loss(RPL) , Mitochondria , D-loop , HV1 , HV2