Clin Exp Reprod Med.
2017 Sep;44(3):152-158. 10.5653/cerm.2017.44.3.152.
MTHFR 3′-untranslated region polymorphisms contribute to recurrent pregnancy loss risk and alterations in peripheral natural killer cell proportions
- Affiliations
-
- 1Department of Biomedical Science, College of Life Science, CHA University, Seongnam, Korea. nkkim@cha.ac.kr
- 2Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam, Korea.
- 3Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
- KMID: 2390494
- DOI: http://doi.org/10.5653/cerm.2017.44.3.152
Abstract
OBJECTIVE
To identify the associations between polymorphisms of the 3"²-untranslated region (UTR) of methylenetetrahydrofolate reductase (MTHFR) gene, which codes for an important regulatory enzyme primarily involved in folate metabolism, and idiopathic recurrent pregnancy loss (RPL) in Korean women.
METHODS
The study population comprised 369 RPL patients and 228 controls. MTHFR 2572C>A, 4869C>G, 5488C>T, and 6685T>C 3"²-UTR polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis or by TaqMan allelic discrimination assays. Natural killer cell proportions were determined by flow cytometry.
RESULTS
The MTHFR 2572-5488-6685 (A-C-T) haplotype had an adjusted odds ratio of 0.420 (95% confidence interval, 0.178-0.994; p=0.048) for RPL. Analysis of variance revealed that MTHFR 4869C>G was associated with altered CD56⺠natural killer cell percentages (CC, 17.91%±8.04%; CG, 12.67%±4.64%; p=0.024) and folate levels (CC, 12.01±7.18 mg/mL; CG, 22.15±26.25 mg/mL; p=0.006).
CONCLUSION
Variants in the 3"²-UTR of MTHFR are potential biomarkers for RPL. However, these results should be validated in additional studies of ethnically diverse groups of patients.
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