Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China
Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China
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DOI：
10.1002/ajmg.a.31115
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发表时间：
2006-03-15
影响因子：
2
通讯作者：
Li, Z
中科院分区：
文献类型：
--
作者：
Zhu, JH;Ren, AG;Li, Z
非综合征性唇腭裂是新生儿最常见的颅面畸形之一。妊娠期补充叶酸可以降低胎儿唇腭裂的发生率，尤其是在华北地区，但其机制尚不清楚。我们对170个中国病例-父母三联体的亚甲基四氢叶酸还原酶（MTHFR）基因的不耐热多态性（C677 T）进行了研究，结果表明，在中国北方人群中，MTHFR基因多态性与nsCL/P中度相关，而在中国南方人群中，该多态性与nsCL/P无关。此外，该研究显示，在北方的杂合子父母将高风险T等位基因传递给受影响病例的可能性是在南方观察到的可能性的两倍（OR = 2.24，95%CI：1.08-4.65）。因此，MTHFR基因多态性是北方人群中nsCL/P的一个重要危险因素。我们的研究表明在中国北方和南方人群中nsCL/P的发生可能存在遗传异质性。(c)2006 Wiley-Liss，Inc.
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common craniofacial malformations among newborn infants. It has been demonstrated that periconceptional folic acid supplementation may reduce the occurrence of offspring with clefts, particularly in the North China; however, the mechanism remains unknown. Our study of a thermolabile polymorphism (C677T) of methylenetetrahydrofolate reductase (MTHFR) gene in 170 Chinese case-parent triads revealed a moderate association between this MTHFR polymorphism and nsCL/P in a population from North China, but not in a population from South China. Moreover, the study revealed that the heterozygous parents in the North were about twice as likely to transmit the high-risk T allele to affected cases, as that observed in the South (OR = 2.24, 95% CI: 1.08-4.65). Thus, the MTHFR polymorphism is a significant risk factor for nsCL/P in this Northern Chinese population. Our study suggested possible genetic heterogeneity in the development of nsCL/P among Northern and Southern populations in China. (c) 2006 Wiley-Liss, Inc.