Sözen Mehmet A, Tolarova Marie M, Spritz Richard A
Department of Medical Biology, School of Medicine, Afyon Kocatepe University, Afyonkarahisar, 03200 Turkey.
J Genet Genomics. 2009 May;36(5):283-8. doi: 10.1016/S1673-8527(08)60116-2.
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is among the most common major birth defects, with complex inheritance involving multiple genes and environmental factors. Numerous studies of MTHFR, encoding methylenetetrahydrofolate reductase, which catalyzes the rate-limiting step of folic acid biosynthesis, have shown inconsistent association of two common hypomorphic allelic variants, C677T and A1298C, in nsCL/P patients and, in some cases, their mothers. We have studied the MTHFR C677T and A1298C polymorphisms in nsCL/P patients, their mothers, and population-matched controls from northern Venezuela. We found no evidence for contribution of the MTHFR C677T and A1298C variants to the risk of nsCL/P in northern Venezuela. Overall, our findings fail to support a causal role of either the MTHFR C677T or A1298C variants in the pathogenesis of nsCL/P in northern Venezuela.
非综合征性唇裂伴或不伴腭裂（nsCL/P）是最常见的主要出生缺陷之一，其遗传复杂，涉及多个基因和环境因素。编码亚甲基四氢叶酸还原酶的MTHFR催化叶酸生物合成的限速步骤，针对该基因的大量研究表明，nsCL/P患者及其部分母亲中，两种常见的低表达等位基因变体C677T和A1298C之间的关联并不一致。我们研究了委内瑞拉北部nsCL/P患者及其母亲以及人群匹配对照中的MTHFR C677T和A1298C多态性。我们没有发现证据表明MTHFR C677T和A1298C变体对委内瑞拉北部nsCL/P的风险有影响。总体而言，我们的研究结果不支持MTHFR C677T或A1298C变体在委内瑞拉北部nsCL/P发病机制中起因果作用。
