Chorna L B, Akopian H R, Makukh H V, Fedoryk I M
Tsitol Genet. 2011 May-Jun;45(3):51-6.
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.
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。
