Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212000, China.
Biochem Genet. 2011 Oct;49(9-10):592-600. doi: 10.1007/s10528-011-9434-8. Epub 2011 Apr 17.
The nuclear factor of activated T lymphocytes (NFATc1) plays a critical role during valvular and septal development. Genetic variants may influence the biological function of the protein and thus play a role in susceptibility to valvuloseptal defects. Tandem repeat polymorphisms and a common nonsynonymous polymorphism (Cys751Gly) of NFATc1 were genotyped in a hospital-based case-control study of 241 patients with valvuloseptal cardiac defects and 557 controls. The risk of valvuloseptal defect associated with the variant homozygote (LL) was significantly greater than that of the wild-type homozygote. Based on stratification analyses by congenital heart disease types, individuals with the LL genotype were postulated to have a higher risk of perimembranous ventricular septal defect (adjusted OR = 1.68, 95% CI = 1.02-2.78). These findings suggest the usefulness of the NFATc1 tandem repeat polymorphism as a biomarker of perimembranous ventricular septal defect susceptibility.
活化 T 淋巴细胞核因子 (NFATc1) 在瓣膜和间隔发育过程中发挥着关键作用。遗传变异可能会影响蛋白质的生物学功能，从而在易感性瓣膜间隔缺损中发挥作用。在瓣膜间隔缺损的 241 例患者和 557 例对照的基于医院的病例对照研究中，对 NFATc1 的串联重复多态性和常见的非同义多态性 (Cys751Gly) 进行了基因分型。与野生型纯合子相比，变体纯合子 (LL) 与瓣膜间隔缺损的风险显著增加。基于先天性心脏病类型的分层分析，假设具有 LL 基因型的个体患膜周室间隔缺损的风险更高（调整后的 OR = 1.68，95%CI = 1.02-2.78）。这些发现表明 NFATc1 串联重复多态性可用作膜周室间隔缺损易感性的生物标志物。
