Vitamin D receptor gene Polymorphisms (fok1 and taq1) among Sudanese women with recurrent miscarriages

Abstract

Background: Vitamin D endocrine system was formally known as a key player in calcium and phosphatehomoeostasis and in regulation of bone remodelling. It is influences maternal and fetal cell differentiation and cell growth immune regulation, insulin secretion and anti-proliferative processes Methods: A case control study was conducted at the National Center of Neurological Sciences (NCNS), Khartoum, Sudan from 2021 to 2022. All patients attending obese and gaina unit at Ibraheim Malike teaching hospital and diagnosed with unexplained recurrent spontaneous abortion during the aforementioned period were included as a cases. Apparently healthy women with no history of abortion at a reproductive age were selected as control. Genomic DNA was extracted from blood, conventional PCR machine was used to amplify the VDR gene. PCR productswere then sequenced. Results A219 bp of VDR (FokI) allele was detected with gel electrophoresis after PCR. The PCR result shows that all of cases were positive100%forVDR (FokI) allele, while34% of controls were positive. When the cases sequencing results were compared with the normal reference the following single Base Exchange were found A>C, G>T and G>A. While when the controls were compared with normal reference, no any single base exchange was found among the all control groups. Mutation taster was used to confirmed the mutations which revealed; A>C Base Exchange polymorphism was predicted, that is confirms the presence of rs2228570polymorphism. Also two another Base Exchange polymorphism was predicted G>A and G>T.   For the Taq1 alleles; 242 bp of VDR (TaqI) allele was detected with gel electrophoresis after PCR. The PCR result shows that 97.7% of cases were positive for VDR (TaqI) allele and14% of controls group were positive. The sequencing analysis detected three single Base Exchange polymorphisms C>T, G>C and C>A.  Mutation taster was used to confirmed the mutations which revealed; C>T Base Exchange polymorphism was predicted, that is confirms the presence of rs731236 polymorphism. In addition to prediction of G>C and C>A which changed the amino acid sequence and the spliced sit. Conclusion: The study showed a significant association between fok1 rs2228570 and taq1 rs731236 variants of the VDR gene and recurrent recurrent miscarriage among Sudanese women