Wintner Sonja, Hafner Erich, Stonek Felix, Stuempflen Ingrid, Metzenbauer Martin, Philipp Karl
Ludwig Boltzmann Institute for Clinical Obstetrics and Gynaecology, Department of Obstetrics and Gynaecology, Donauspital des SMZ-Ost, Vienna, Austria.
Prenat Diagn. 2007 Aug;27(8):704-8. doi: 10.1002/pd.1761.
MTHFR C677T polymorphism and hyperhomocysteinemia have been associated with congenital malformations of the heart and neural tube defects. A common missense mutation in the MTHFR gene (C to T substitution at position 677) produces a variant with reduced enzymatic action. The aim of this retrospective case control study was to investigate whether the occurrence of the MTHFR polymorphism is increased in mothers and fathers of children with a congenital heart disease (CHD) in our population.
We genotyped 31 couples with CHD offspring and 31 control couples for this study by obtaining smears from buccal gingiva cells and analyzed these for the MTHFR polymorphism by hybridization on microarrays.
Statistical significance was calculated using the chi-square test and Pearson-exact test, respectively. The prevalence of homozygosity or heterozygosity for the MTHFR polymorphism was not significantly increased in parents of CHD affected children. Nevertheless significance was observed for the association between aortic arch anomalies and the mothers.
The results of this study do not show any significant association between the MTHFR C677T polymorphism and CHD in our population. Although the numbers are small (n = 3), the MTHFR (C677T) polymorphism may be linked to the development of aortic arch anomalies.
亚甲基四氢叶酸还原酶（MTHFR）C677T多态性和高同型半胱氨酸血症与先天性心脏畸形和神经管缺陷有关。MTHFR基因中的一个常见错义突变（677位C替换为T）产生一种酶活性降低的变体。这项回顾性病例对照研究的目的是调查在我们的人群中，先天性心脏病（CHD）患儿的父母中MTHFR多态性的发生率是否增加。
我们通过采集颊龈细胞涂片，对31对患有CHD后代的夫妇和31对对照夫妇进行基因分型，并通过微阵列杂交分析这些样本的MTHFR多态性。
分别使用卡方检验和Pearson精确检验计算统计学意义。CHD患儿父母中MTHFR多态性的纯合子或杂合子患病率没有显著增加。然而，观察到主动脉弓异常与母亲之间存在显著关联。
本研究结果未显示在我们的人群中MTHFR C677T多态性与CHD之间存在任何显著关联。尽管样本量较小（n = 3），但MTHFR（C677T）多态性可能与主动脉弓异常的发生有关。
