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唇腭裂患者及其母亲中MTHFR、MTR和MTRR基因的等位基因多态性

[Allelic polymorphism of MTHFR, MTR and MTRR genes in patients with cleft lip and/or palate and their mothers].

作者信息

Chorna L B, Akopian H R, Makukh H V, Fedoryk I M

出版信息

Tsitol Genet. 2011 May-Jun;45(3):51-6.

Abstract

The frequency of common MTHFR, MTR and MTRR genes polymorphisms was evaluated among patients with non-syndromic cleft lip and/or palate (CL/P), their mothers and healthy persons from West-Ukrainian region. MTHFR 677TT genotype was shown to increase more than three-fold risk of CL/P and for mothers the risk of having CL/P children may increase two-fold compared with homozygous carriers of MTHFR 677CC genotype (OR = 3.3, OR = 1.92, respectively). The heterozygous MTR 2756AG genotype was associated with 1.5-fold increased risk of CL/P compared with the AA genotype (OR = 1.48). The heterozygous genotype MTRR 66AG was associated with the 5.56-fold increased CL/P risk (OR = 5.56) and for mothers with 2.6-fold increased risk of delivering a CL/P offspring (OR = 2.6). The results showed that MTRR 66G allele is more prevalent than MTRR 66A (wild type) and the MTRR 66GG genotype frequency was significantly lower among CL/P patients and their mothers than in control group among Western Ukrainian inhabitants.

摘要

在来自乌克兰西部地区的非综合征性唇腭裂(CL/P)患者、他们的母亲以及健康人群中,评估了常见的亚甲基四氢叶酸还原酶(MTHFR)、蛋氨酸合成酶(MTR)和蛋氨酸合成酶还原酶(MTRR)基因多态性的频率。结果显示,MTHFR 677TT基因型会使CL/P风险增加三倍多,对于母亲而言,与MTHFR 677CC基因型的纯合携带者相比,生育CL/P患儿的风险可能会增加两倍(OR分别为3.3和1.92)。与AA基因型相比,杂合的MTR 2756AG基因型与CL/P风险增加1.5倍相关(OR = 1.48)。杂合基因型MTRR 66AG与CL/P风险增加5.56倍相关(OR = 5.56),对于母亲而言,分娩CL/P后代的风险增加2.6倍(OR = 2.6)。结果表明,MTRR 66G等位基因比MTRR 66A(野生型)更常见,并且CL/P患者及其母亲中MTRR 66GG基因型频率显著低于乌克兰西部居民对照组。

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