Impact of MTHFR Gene Polymorphisms C677T and A1298C on Congenital Atrial Septal Defect Risk in an Iranian Cohort.

IF 1.2 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Reports of Biochemistry and Molecular Biology Pub Date : 2024-10-01 DOI:10.61186/rbmb.13.3.377

Noor Mohammad Noori, Saeedeh Yaghoubi, Ali Aghighi, Mohsen Taheri, Gholamreza Bahari

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引用次数: 0

Abstract

Background: Congenital heart defects (CHD) are recognized as the most common heart abnormalities amongst newborns and children, and atrial septal defect (ASD) is recognized as one of the most frequent forms of CHD. Prior studies indicated that the methylenetetrahydrofolate reductase (MTHFR) gene contributes to the etiology of CHD. Therefore, we designed a case-control study to assess the possible role of the MTHFR gene, specifically the C677T (rs1801133) and A1298C (rs1801131) polymorphisms within the Iranian ASD population sample.

Methods: A total of 166 subjects (81 children diagnosed with ASD and 85 control participants) were enrolled in this research. Samples genotyped for MTHFR rs1801133 and rs1801131 polymorphisms using the PCR-RFLP and ARMS-PCR approaches.

Results: Our results indicated that rs1801131 variant reduced the risk of ASD in codominant (OR [95%CI]: 0.41[0.21-0.83], P=0.012), dominant (OR[95%CI]: 0.48 [0.25-0.93], p=0.028) and overdominant (OR[95%CI]: 0.44 [0.23-0.81], P=0.009) models. Moreover, rs1801133 variant increased the risk of ASD in codominant (OR[95%CI]: 2.68[1.39-5.16], P = 0.003), dominant (OR [95% CI]: 2.72 [1.43-5.14], P = 0.002), overdominant (OR [95% CI]: 2.50 [1.31-4.78], P = 0.005), and allelic (OR [95% CI]: 2.16 [1.27-3.69], P = 0.004) models.

Conclusions: Our findings suggest that MTHFR rs1801133 and rs1801131 variants may potentially affect the onset of ASD.

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MTHFR基因多态性C677T和A1298C对伊朗人群先天性房间隔缺损风险的影响

背景：先天性心脏缺陷（CHD）被认为是新生儿和儿童中最常见的心脏异常，房间隔缺损（ASD）被认为是最常见的冠心病形式之一。先前的研究表明，亚甲基四氢叶酸还原酶（MTHFR）基因与冠心病的病因有关。因此，我们设计了一项病例对照研究，以评估MTHFR基因，特别是C677T （rs1801133）和A1298C （rs1801131）多态性在伊朗ASD人群样本中的可能作用。方法：共纳入166名受试者（81名诊断为ASD的儿童和85名对照组）。使用PCR-RFLP和ARMS-PCR方法对MTHFR rs1801133和rs1801131多态性进行基因分型。结果：我们的研究结果表明，rs1801131变异降低了共显性（OR[95%CI]: 0.41[0.21-0.83]， P=0.012）、显性（OR[95%CI]: 0.48 [0.25-0.93]， P= 0.028）和过显性（OR[95%CI]: 0.44 [0.23-0.81]， P=0.009）模型的ASD风险。此外，rs1801133变异增加共显性（OR[95%CI]: 2.68[1.39-5.16], P = 0.003）、显性（OR[95%CI]: 2.72 [1.43-5.14], P = 0.002）、过显性（OR[95%CI]: 2.50 [1.31-4.78], P = 0.005）和等位基因（OR[95%CI]: 2.16 [1.27-3.69], P = 0.004）模型的ASD风险。结论：我们的研究结果表明，MTHFR rs1801133和rs1801131变异可能潜在地影响ASD的发病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Reports of Biochemistry and Molecular Biology BIOCHEMISTRY & MOLECULAR BIOLOGY-

CiteScore

2.80

自引率

23.50%

发文量

审稿时长

10 weeks

期刊介绍： The Reports of Biochemistry & Molecular Biology (RBMB) is the official journal of the Varastegan Institute for Medical Sciences and is dedicated to furthering international exchange of medical and biomedical science experience and opinion and a platform for worldwide dissemination. The RBMB is a medical journal that gives special emphasis to biochemical research and molecular biology studies. The Journal invites original and review articles, short communications, reports on experiments and clinical cases, and case reports containing new insights into any aspect of biochemistry and molecular biology that are not published or being considered for publication elsewhere. Publications are accepted in the form of reports of original research, brief communications, case reports, structured reviews, editorials, commentaries, views and perspectives, letters to authors, book reviews, resources, news, and event agenda.