墨西哥西部新生儿NOS3 894G>T (p.Glu298Asp)变异作为开放性神经管缺陷危险因素的评价

IF 1 4区 生物学 Q4 GENETICS & HEREDITY
Genetic testing and molecular biomarkers Pub Date : 2025-09-01 Epub Date: 2025-08-29 DOI:10.1177/19450265251375936
Diana Karen Pérez-Alfaro, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Mireya Orozco-Vela, Idalid Cuero-Quezada, Jorge Román Corona-Rivera
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引用次数: 0

摘要

背景:一氧化氮(NO)合成酶3 (NOS3) 894G>T (p.Glu298Asp)变异与高加索人神经管缺陷(NTDs)的风险升高有关。这种关联表明一氧化氮和叶酸途径之间存在联系。目的:本研究旨在评估NOS3 (p.Glu298Asp)变异在墨西哥西部分离的开放性和闭合性NTDs (CNTDs)婴儿中的潜在遗传危险因素。材料与方法:研究人群包括114例开放性和CNTDs的活产婴儿(病例)和155例无重大出生缺陷的新生儿(对照组)。采用PCR扩增和直接Sanger测序对NOS3 894G>T (p.Glu298Asp)变异进行基因分型。数据采用logistic回归分析。结果:NOS3 894T等位基因(调整比值比[aOR] = 2.1; 95%可信区间[95% CI]: 1.3 ~ 3.4)、894GT (aOR = 2.3; 95% CI: 1.3 ~ 4.1)和894GT/TT (aOR = 2.6; 95% CI: 1.4 ~ 4.7)基因型与开放性NTDs (ONTDs)显著相关。NOS3 894G >t基因变异与cntd之间没有关联。结论:本研究表明,在所研究的墨西哥患者中,NOS3 894G>T (p.Glu298Asp)变异与ONTDs风险增加有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluation of NOS3 894G>T (p.Glu298Asp) Variant as Risk Factor for Open Neural Tube Defects in Infants from Western Mexico.

Background: The nitric oxide (NO) synthase 3 (NOS3) 894G>T (p.Glu298Asp) variant has been associated with an elevated risk of neural tube defects (NTDs) in Caucasians. This association suggests a link between the NO and folic acid pathways. Aim: This study aimed to evaluate the NOS3 (p.Glu298Asp) variant as a potential genetic risk factor in infants with isolated open and closed NTDs (CNTDs) from Western Mexico. Materials and Methods: The studied population included 114 live-born infants with open and CNTDs (cases) and 155 neonates without major birth defects (controls). Genotyping of the NOS3 894G>T (p.Glu298Asp) variant was performed by PCR amplification and direct Sanger sequencing. Data were analyzed using logistic regression analysis. Results: The NOS3 894T allele (adjusted odds ratio [aOR] = 2.1; 95% confidence interval [95% CI]: 1.3-3.4), the 894GT (aOR = 2.3; 95% CI: 1.3-4.1), and the 894GT/TT (aOR = 2.6; 95% CI: 1.4-4.7) genotypes were significantly associated with open NTDs (ONTDs). There was no association between the NOS3 894G>T gene variants and CNTDs. Conclusions: This study indicates that the NOS3 894G>T (p.Glu298Asp) variant is associated with an increased risk of ONTDs in the studied Mexican patients.

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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
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
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