来自墨西哥西部患有神经管缺陷的梅斯蒂索婴儿的亚甲基四氢叶酸还原酶（MTHFR）C677T和A1298C变体
MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico.
作者信息
Aranda-Sánchez Cristian Irela, Bobadilla-Morales Lucina, Corona-Rivera Alfredo, Cuero-Quezada Idalid, Santana-Hernández Jennifer, Baldomero-López Alejandra, Romero-Bolaño Yaneris M, Peña-Padilla Christian, Corona-Rivera Jorge Román
机构信息
Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, "Dr. Juan I. Menchaca", Civil Hospital of Guadalajara, Guadalajara, Mexico.
"Dr. Enrique Corona-Rivera" Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center, University of Guadalajara, Guadalajara, Mexico.
出版信息
Congenit Anom (Kyoto). 2021 Sep;61(5):188-192. doi: 10.1111/cga.12429. Epub 2021 May 29.
Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic discrimination assay, we genotyped 101 live-born patients with NTDs (cases) and 247 controls. Our findings do not support that homozygosity or heterozygosity for the variants C677T and A1298C in the MTHFR gene are associated with NTDs in infants. However, since we have the highest worldwide frequency of homozygotes for the MTHFR C677T variant, we cannot rule out that our propensity for NTDs may be related to how such gene variant interacts with other factors, mainly with our secular patterns of inappropriate folate intake.
我们的研究调查了亚甲基四氢叶酸还原酶（MTHFR）基因C677T和A1298C变异在墨西哥西部神经管缺陷（NTD）婴儿中的作用。我们采用TaqMan等位基因鉴别分析方法，对101例活产神经管缺陷患者（病例组）和247例对照进行了基因分型。我们的研究结果并不支持MTHFR基因C677T和A1298C变异的纯合性或杂合性与婴儿神经管缺陷有关。然而，由于我们拥有全球最高的MTHFR C677T变异纯合子频率，我们不能排除我们患神经管缺陷的倾向可能与该基因变异如何与其他因素相互作用有关，主要是与我们长期不适当的叶酸摄入模式有关。
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