Methylenetetrahydrofolate Reductase Polymorphisms and Risk of Recurrent Pregnancy Loss: a Case-Control Study
| Autor: | Jong Kwan Jun, Young Min Choi, Hyeon Jeong Jeong, Kyu Ri Hwang, Kwang Moon Yang, Eun Chan Paik, Sung Ki Lee, Sang Ho Yoon, Jin Ju Kim, Min A. Hong |
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| Rok vydání: | 2017 |
| Předmět: |
Adult
0301 basic medicine Abortion Habitual medicine.medical_specialty Hyperhomocysteinemia Genotype Korean Single-nucleotide polymorphism Polymorphism Single Nucleotide Gastroenterology MTHFR Gene 03 medical and health sciences 0302 clinical medicine Asian People Gene Frequency Pregnancy Risk Factors Internal medicine Republic of Korea medicine Humans Single-Nucleotide Polymorphisms Genotyping Methylenetetrahydrofolate Reductase (NADPH2) 030219 obstetrics & reproductive medicine biology business.industry Case-control study Obstetrics & Gynecology General Medicine medicine.disease 030104 developmental biology Case-Control Studies Methylenetetrahydrofolate reductase biology.protein Recurrent Pregnancy Loss Gestation Female Original Article business |
| Zdroj: | Journal of Korean Medical Science |
| ISSN: | 1598-6357 1011-8934 |
| DOI: | 10.3346/jkms.2017.32.12.2029 |
| Popis: | The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of MTHFR single nucleotide polymorphisms (SNPs), C677T and A1298C, in Korean patients with recurrent pregnancy loss (RPL). We conducted a prospective case-control study in the Korean population. Subjects included 302 women with 2 or more consecutive, unexplained, spontaneous miscarriages before 20 weeks of gestation and 315 control women without a history of recurrent miscarriages. The genotyping for C677T and A1298C polymorphisms was performed using the TaqMan assay. Continuous variables were compared using Student's t-test, and χ2 test was used to evaluate differences in the genotype distributions between the RPL and the controls. The genotype distribution of both polymorphisms in the RPL group did not differ from those of the controls. For further analysis, if RPL patients were divided according to the numbers of pregnancy losses (≥ 2 and ≥ 3) neither group was significantly different compared with controls. MTHFR gene C677T and A1298C polymorphisms are not associated with idiopathic RPL in Korean women, suggesting that those may not be susceptible allelic variants or be deficient to cause RPL. Graphical Abstract |
| Databáze: | OpenAIRE |
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