Martinelli Marcella, Girardi Ambra, Cura Francesca, Nouri Nayereh, Pinto Valentina, Carinci Francesco, Morselli Paolo Giovanni, Salehi Mansoor, Scapoli Luca
Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy.
Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy.
Arch Oral Biol. 2016 Jan;61:79-82. doi: 10.1016/j.archoralbio.2015.10.019. Epub 2015 Oct 27.
Orofacial clefts (OFCs) are one of the most common birth defects in humans. They are the subject of a number of investigations aimed at elucidating the bases of their complex mode of inheritance involving both genetic and environmental factors. Genes belonging to the folate pathway have been among the most studied. The aim of the investigation was to replicate previous studies reporting evidence of association between polymorphisms of folate related genes and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P), using three independent samples of different ancestry: from Tibet, Bangladesh and Iran, respectively.
Specifically, the polymorphisms rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS, were tested.
A decreased risk of NSCL/P was observed in patients presenting the C677T variant at MTHFR gene (relative risk for heterozygotes=0.53; 95% confidence interval [C.I.]=0.32-0.87). The investigated polymorphisms mapping at TCN2 and CBS genes did not provide any evidence of association.
Overall, these results indicate that NSCL/P risk factors differ among populations and confirm the importance of testing putative susceptibility variants in different genetic backgrounds.
口面部裂隙（OFCs）是人类最常见的出生缺陷之一。它们是许多旨在阐明其涉及遗传和环境因素的复杂遗传模式基础的研究对象。属于叶酸途径的基因一直是研究最多的基因之一。本研究的目的是使用分别来自西藏、孟加拉国和伊朗的三个不同血统的独立样本，重复先前关于叶酸相关基因多态性与非综合征性唇裂伴或不伴腭裂（NSCL/P）发生之间关联证据的研究。
具体而言，对MTHFR的rs1801133、TCN2的rs1801198和CBS的rs4920037多态性进行了检测。
在MTHFR基因呈现C677T变异的患者中观察到NSCL/P风险降低（杂合子的相对风险=0.53；95%置信区间[C.I.]=0.32 - 0.87）。在TCN2和CBS基因上检测的多态性未提供任何关联证据。
总体而言，这些结果表明NSCL/P的风险因素在不同人群中存在差异，并证实了在不同遗传背景下检测假定的易感变异的重要性。
