MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.

IF 1.1 4区生物学 Q4 GENETICS & HEREDITY

Genetic testing and molecular biomarkers Pub Date : 2024-06-01 Epub Date: 2024-05-08 DOI:10.1089/gtmb.2023.0690

Yaneris Maibeth Romero-Bolaño, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Idalid Cuero-Quezada, Jennifer Santana-Hernández, Christian Peña-Padilla, Alejandro Brukman-Jiménez, Mireya Orozco-Vela, Natalia Navia-Espinoza, Jorge Román Corona-Rivera

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引用次数: 0

Abstract

Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene can increase the risk of having a child with DS. Aim: This study aimed to evaluate the MTHFR 677C>T and 1298A>C variants as potential maternal risk factors for DS. Materials and Methods: Using TaqMan allelic discrimination assay, we genotyped 95 MoIDS and 164 control mothers from western Mexico. Data were analyzed using logistic regression analysis. Results: We found that MoIDS had a significantly higher risk for the MTHFR 677TT genotype (adjusted odds ratio [aOR] = 3.4, 95% confidence interval [95% CI]: 1.1-10.6), and the MTHFR 677T allele (aOR = 1.5, 95% CI: 1.0-2.3), particularly in MoIDS <35 years of age. Conclusions: Our findings indicate that the presence of the 677TT genotype and 677T allele of the MTHFR 677C>T variant are maternal risk factors for DS in Mexican MoIDS.

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墨西哥西部唐氏综合征婴儿母亲的 MTHFR 677C>T 和 1298A>C 变异。

背景：一些针对唐氏综合征（DS）婴儿母亲（MoIDS）的研究表明，5,10-甲基五氢叶酸还原酶（MTHFR）基因的677C>T和1298A>C变异可增加DS患儿的出生风险。目的：本研究旨在评估 MTHFR 677C>T 和 1298A>C 变体作为 DS 的潜在母体风险因素。材料与方法：使用 TaqMan 等位基因鉴别分析法，我们对墨西哥西部的 95 名 MoIDS 母亲和 164 名对照组母亲进行了基因分型。数据采用逻辑回归分析法进行分析。结果：我们发现，MoIDS 患 MTHFR 677TT 基因型（调整后的几率比 [aOR] = 3.4，95% 置信区间 [95%CI]：1.1-10.6）和 MTHFR 677T 等位基因（aOR = 1.5，95% CI：1.0-2.3）的风险明显更高，尤其是在 MoIDS 中：我们的研究结果表明，MTHFR 677C>T 变体的 677TT 基因型和 677T 等位基因的存在是墨西哥 MoIDS 中 DS 的母体风险因素。

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来源期刊

Genetic testing and molecular biomarkers 生物-遗传学

CiteScore

2.50

自引率

7.10%

发文量

审稿时长

1 months

期刊介绍： Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling