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Allelic polymorphisms in the MTHFR, MTR and MTRR genes in patients with cleft lip and/or palate and their mothers
Authors:L. B. Chorna  H. R. Akopyan  H. V. Makukh  I. M. Fedoryk
Affiliation:(1) Department of Obstetrics and Gynecology, East-West Neo Medical Center, Kyung Hee University, #149 Sangil-Dong, Gangdong-Gu, Seoul, 134-890, Korea;(2) Department of Obstetrics and Gynecology, Inha University School of Medicine, Incheon, Korea;(3) Department of Obstetrics and Gynecology, Gil Medical Center, Gachon University of Medicine and Science, Incheon, Korea;(4) Carcinogenesis Branch, Division of Basic Sciences, National Cancer Center, Goyang, Korea;(5) Department of Obstetrics and Gynecology, Korea University College of Medicine, Seoul, Korea;(6) Department of Obstetrics and Gynecology, Chungnam National University College of Medicine, Daejeon, Korea;(7) Department of Obstetrics and Gynecology, Ajou University School of Medicine, Suwon, Korea;(8) Department of Obstetrics and Gynecology, Yongdong Severance Hospital, Yonsei University College of Medicine, Seoul, Korea;(9) Department of Obstetrics and Gynecology, The Catholic University of Korea College of Medicine, Seoul, Korea;(10) Department of Obstetrics and Gynecology, Hallym University College of Medicine, Seoul, Korea;
Abstract:The distribution of polymorphic variants in the MTHFR, MTR and MTRR genes in the contingents of patients with nonsyndromic cleft lip and/or palate (NSCL/P), their mothers, and healthy individuals from Ukraine’s western region was evaluated. It was shown that the presence of the homozygous MTHFR 677TT genotype might lead to a threefold increase in the risk of CL/P; mothers carrying the MTHFR 677TT genotype had a twofold increase in the risk of giving birth to a child with CL/P compared to homozygous carriers of MTHFR 677CC (OR = 3.3 and OR = 1.92, respectively). The presence of the heterozygous genotype MTR 2756AG can lead to a 1.5-fold increase in the risk of CL/P compared to the 2765AA genotype (OR = 1.48). The heterozygous genotype MTRR 66AG is associated with a 5-fold risk of CL/P (OR = 5.56); mothers carrying this genotype had a 2.6-fold increase in the risk of giving birth to a child with CL/P (OR = 2.6). The prevalence of the MTRR 66G allelic variant among inhabitants of Ukraine’s western region was higher compared to the MTRR 66A allelic variant (wild type); and the MTRR 66GG genotype frequency among CL/P patients was significantly lower compared to the control group.
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