The Application of Clinical Genetics (Jun 2022)

Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women

  • Nguyen Ngoc N,
  • Tran Ngoc Thao M,
  • Trieu Tien S,
  • Vu Tung S,
  • Le H,
  • Ho Sy H,
  • Nguyen Thanh T,
  • Trinh The S

Journal volume & issue
Vol. Volume 15
pp. 55 – 62

Abstract

Read online

Nhat Nguyen Ngoc,1 My Tran Ngoc Thao,2 Sang Trieu Tien,3 Son Vu Tung,4 Hoang Le,5 Hung Ho Sy,6 Tung Nguyen Thanh,1 Son Trinh The1 1Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 12108, Vietnam; 2Département de formation Biologie moléculaire et cellulaire, Sorbonne University, Paris, 75006, France; 3Department of Biology and Genetics, Vietnam Military Medical University, Hanoi, 12108, Vietnam; 4Department of Epidemiology, Vietnam Military Medical University, Hanoi, 12108, Vietnam; 5IVFTA, Tam Anh General Hospital, Hanoi, 100000, Vietnam; 6Department of Obstetrics and Gynecology, Hanoi Medical University, Hanoi, 100000, VietnamCorrespondence: Son Trinh The; Tung Nguyen Thanh, Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 12108, Vietnam, Email [email protected]; [email protected]: To investigate the relationship between unexplained recurrent pregnancy loss (URPL) and polymorphisms of homocysteine metabolism-related genes in women.Materials and Methods: A case–control study included 90 women with two or more consecutive unexplained pregnancy losses and 92 controlled women without miscarriage history; the female participants were in the age category of 18– 35 years. The high-resolution melting technique was used to detect the single-nucleotide variants related to homocysteine metabolism disorder, namely MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphism.Results: The MTHFR C677T polymorphism had significantly correlation with URPL. Indeed, the frequency of the677T allele and genotypes (677CT, 677TT) in the URPL group was significantly higher than that in the control group (p 0.05). MTHFR 677CT-1298AC genotype combination led to a 9.0-fold increased risk of URPL (OR 9.0; 95% CI, 2.25– 35.99; p = 0.001), while the risk increased 10.0-fold (OR 10.0; 95% CI, 1.8– 55.53; p = 0.008) when participants had more than the 3 variant loci.Conclusion: The MTHFR C677T polymorphism was a risk factor for URPL, and determining the MTHFR C677T polymorphism had a potential prediction of URPL risk. Moreover, the MTHFR C677T and MTHFR A1298C joint mutants might have a synergistic effect on URPL. Conversely, there is a lack of evidence suggesting the URPL risk of MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphisms.Keywords: unexplained recurrent pregnancy loss, homocysteine, MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G

Keywords