MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population.

The Application of Clinical Genetics Pub Date : 2019-03-07 eCollection Date: 2019-01-01 DOI:10.2147/TACG.S194166

Amine Rafik, Laila Rachad, Abdou-Samad Kone, Sellama Nadifi

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引用次数: 7

Abstract

Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial malformations observed. Several studies suggest that the decrease in folate has been associated with a higher risk of NSCL/P. The present study aimed to determine the association of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism gene with the occurrence of NSCL/P in the Moroccan population.

Methods: MTHFR C677T was genotyped in 52 Moroccan patients and 182 unrelated controls, using a PCR followed by restriction fragment length polymorphism.

Results: The results of the study revealed a genotypic and phenotypic distribution in equilibrium with Hardy-Weinberg's law (χ²=0.36, P=0.55). The frequency of heterozygous genotype C/T and the T allele in controls and patients were 40.7% vs 15.4% and 26%, respectively.

Conclusion: A low association was found between the C677T polymorphism of the MTHFR gene and a risk for the development of NSCL/P in the Moroccan population (OR =0.24, P=0.0005).

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摩洛哥人群中MTHFR C677T多态性与伴或不伴腭裂的非综合征性唇裂的风险

背景:非综合征性唇裂伴或不伴腭裂(NSCL/P)是最常见的颅面畸形之一。几项研究表明，叶酸的减少与nsl /P的高风险有关。本研究旨在确定摩洛哥人群中5,10-亚甲基四氢叶酸还原酶(MTHFR) C677T多态性基因与NSCL/P发生的关系。方法:对52例摩洛哥患者和182例不相关的对照组进行MTHFR C677T基因分型，采用限制性片段长度多态性的PCR方法。结果:研究结果显示基因型和表型分布符合Hardy-Weinberg定律(χ2=0.36, P=0.55)。C/T杂合基因型和T等位基因在对照组和患者中的频率分别为40.7%、15.4%和26%。结论:摩洛哥人群中MTHFR基因C677T多态性与NSCL/P发生风险之间存在低相关性(OR =0.24, P=0.0005)。

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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The Application of Clinical Genetics

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