ACE and MTHFR gene polymorphisms in unexplained recurrent pregnancy loss

Abstract

In conclusion, the present study reveals lack of association of MTHFR C677T and ACE I/D polymorphisms in RPL in South Indian women. However, we cannot exclude the possibility that other polymorphisms of ACE and MTHFR genes could be associated with the disease and might be clinically useful as a marker to assess risk for RPL.

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

“…[45][46][47][48][49][50][51][52] The c.1286A→C variant has been studied less, but current evidence suggests that it is milder than the "thermolabile" variant. [53][54][55][56] Preliminary findings in combined genotypes have found that they are not significantly different from controls.…”

Methylenetetrahydrofolate Reductase C677T Polymorphism and Recurrent Pregnancy Loss Risk in Asian Population: A Meta-analysis

“…Smallest sample size was 24 [41] and largest sample size was 329 [50]. Seven studies did not show any association between C677T polymorphism and RPL risk [21,28,29,37,43,47,52], remaining twenty-two studies showed significant association. In twenty-nine studies, total cases were 3725 with CC (1971), CT (1325) and TT (429), and controls were 4105 with CC (2545), CT (1218), and TT (342).…”

“…Another 24 articles from remaining 53 articles were again excluded because studied population was not Asian. Finally, 29 studies were included in present meta-analysis [11,15,16,21,[27][28][29][30] (Fig. 1; Table 1).…”

“…All these twenty-five studies were performed in different countries like-Behrain [47], China [38-40, 42, 44, 46, 54], Egypt [52], India [11,21,29,30,41,48,49,57], Iran [28,51,53,55,56], Israel [15,37], Japan [43,45], Palestine [50], SriLanka [16], Turkey [27]. Smallest sample size was 24 [41] and largest sample size was 329 [50].…”

“…C677T missense mutation (rs 1,801,133; Ala 222 Val) at nucleotide 677 results in an enzyme that is thermolabile and exhibits reduced activity compared with the wild type. This mutation is associated with hyperhomocysteinemia [19][20][21]. TT MTHFR homozygotes are predisposed to increased plasma homocysteine levels, particularly in individuals with low folate [22,23].…”