Polymorphic variants of genes involved in choline pathway and the risk of intrauterine fetal death

Abstract

Objectives: Choline and folate metabolism disturbances may be involved in the occurrence of intrauterine fetal death (IUFD).The proper activity of this metabolism could be determined by genetic variants involved in choline pathway e.g. CHKA(gene encoding choline kinase α), PCYT1A (gene encoding CCTα) and CHDH (gene encoding choline dehydrogenase). Ourstudy aimed at determining the genotype and allele frequencies of CHKA rs7928739, PCYT1A rs712012, PCYT1A rs7639752,CHDH rs893363 and CHDH rs2289205 polymorphisms in mothers with IUFD occurrence.Material and methods: The study involved 76 mothers with IUFD occurrence and 215 mothers of healthy children. Geneticanalysis was performed with the use of PCR/RFLP method.Results: The frequency of genotypes and alleles of studied polymorphisms was similar in both groups. The study revealedno association of PCYT1A, CHKA and CHDH polymorphisms in analysed groups of women. While evaluating the co-existenceof analysed polymorphisms statistically significant correlation was revealed. Co-existence of CHKA rs7928739 AC/CHDHrs2289205 AA genotypes was observed statistically more frequently in the study group than in the control group (p = 0,031).Conclusions: There is no correlation between single CHKA rs7928739, PCYT1A rs712012, PCYT1A rs7639752, CHDHrs893363 and CHDH rs2289205 polymorphisms and the incidence of intrauterine fetal death. However, revealed statisticallysignificant difference between co-existence of CHKA rs7928739 AC/CHDH rs2289205 AA genotypes between studygroups suggest the need of further analysis