Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy.
Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
Int J Immunopathol Pharmacol. 2019 Jan-Dec;33:2058738419855571. doi: 10.1177/2058738419855571.
Orofacial clefts are common congenital defects whose prevalence differs between geographical regions and ethnic groups. The inheritance is complex, involving the contribution of both genetic and environmental factors. The involvement of genes belonging to the folate pathway is still matter of debate, with strong evidences of association and conflicting results. After demonstrating the contribution, for a sample from the Italian population, of common mutations mapping on three genes of the folate pathway, our group tried to unravel their contribution in independent sample studies with different ethnicity. In the present investigation a set of 34 triads with oral cleft from Nassiriya, Iraq, has been genotyped for rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS polymorphisms. Association analysis evidenced a decreased risk of cleft for children carrying the 667G allele at TCN2 gene ( = 0.02). This evidence further supported the relationship between polymorphisms of folate related genes and oral clefts, and outlined the relevance of studying populations having different ethnicity.
口面裂是一种常见的先天性缺陷，其在不同地区和种族之间的发生率存在差异。遗传是复杂的，涉及遗传和环境因素的共同作用。属于叶酸途径的基因的参与仍然是一个有争议的问题，有强烈的关联证据和相互矛盾的结果。在证明了来自意大利人群的样本中，叶酸途径上的三个基因的常见突变与唇腭裂有关之后，我们的研究小组试图在具有不同种族的独立样本研究中揭示它们的作用。在本研究中，对来自伊拉克纳西里耶的 34 个三口之家进行了 MTHFR 的 rs1801133、TCN2 的 rs1801198 和 CBS 多态性的 rs4920037 基因分型。关联分析表明，TCN2 基因的 667G 等位基因携带者的唇腭裂风险降低（ = 0.02）。这一证据进一步支持了与叶酸相关基因多态性和口面裂之间的关系，并强调了研究具有不同种族的人群的相关性。
