Association of Methylenetetrahydrofolate Reductase C677T and A1298C Gene Polymorphisms With Recurrent Pregnancy Loss in Syrian Women

Abstract

C677T polymorphism of the methylenetetrahydrofolate reductase ( MTHFR) gene was a risk factor for recurrent pregnancy loss (RPL), but few studies have confirmed a possible role of MTHFR A1298C polymorphism in RPL risk. This study was carried out to determine the influence of the MTHFR gene polymorphisms in RPL Syrian women. A case-control study was performed on 2 groups (106 healthy and 100 RPL women). The frequency of the MTHFR gene polymorphisms was determined by polymerase chain reaction based on restriction fragment length gene polymorphism. In the RPL group, the genotype frequencies of MTHFR C677T were CC (41%), CT (41%), and TT (18%), and in the control group, the frequencies were CC (62.2%), CT (36.7%), and TT (1%). Statistical analysis showed a homozygous TT genotype and T allele were significantly different in the RPL group ( P = .000003 and P = .000019, respectively). The genotype frequencies of MTHFR A1298C were AA (53%), AC (44%), and CC (8%) in the RPL group, whereas in the control group, these were AA (61.3%), AC (37.8%), and CC (1%). A significant difference in the CC genotype and C allelic frequencies in the RPL women was observed ( P = .014 and P = .064, respectively). The patients having compound heterozygous (677 CT/1298AC) were associated with an estimated 4.86-fold increase in risk of pregnancy loss compared to individuals with a wild type ( P = .012). Our findings indicate that RPL women with homozygous genotype for (C677T and A1298C) either alone or compound heterozygous genotypes have a high risk of pregnancy loss in Syrian women.

Impact of pregnancy on inborn errors of metabolism

“…The impact and management of these conditions in pregnancy has been reviewed previously [ 5 , 86 , 89 ]; the main complications are maternal venous thromboembolism during pregnancy and post-partum [ 90 ]. MTHFR polymorphisms A1298C [ 91 ] and C677T which are relatively mild and common in the general population have been variably associated with recurrent miscarriage, [ 92 – 96 ] and reduced in-vitro fertilization success [ 97 ].…”

Lack of Association between Factor V Leiden G1691A, Prothrombin G20210A, MTHFC677T Mutations, and Early Recurrent Pregnancy Loss in a Group of Sudanese Women

“…A mutation in the gene inhibits the production of this enzyme, result in hyperhomocystinemia and this increase has been associated with poor pregnancy outcomes. Numerous studies have reported associations between Factor V Leiden G1691A, prothrombin G20210A, MTHFC677T Mutations polymorphisms with poor pregnancy outcomes [10,11,12]. This study aimed at testing the association between FVL, FII, MTHFR and RPL in Sudanese women.…”

Association between gene polymorphism of folate metabolism and recurrent spontaneous abortion in Asia

“…[ 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 ] Among the included articles, 20 studies described the relationship between polymorphisms of MTHFR C677T and RSA with 2413 cases and 2923 controls involving 10 countries. Eleven articles[ 18 21 22 27 30 38 39 40 41 42 43 ] demonstrated the association between MTHFR A1298C and RSA with 1889 cases and 1947 controls involving 5 countries. Six literatures described the relationship between A66G and URSA with 918 cases and 942 controls involving 2 countries.…”