Association between RNF41 gene c.-206 T > A genetic polymorphism and risk of congenital heart diseases in the Chinese Mongolian population.
Association between RNF41 gene c.-206 T > A genetic polymorphism and risk of congenital heart diseases in the Chinese Mongolian population.
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RNF41基因c.-206 T > A遗传多态性与中国蒙古族人群先天性心脏病风险的关联。
DOI：
10.4238/gmr.15028089
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
J. L. Huang
中科院分区：
文献类型：
--
作者：
Y. Zhang;S. Jin;W. X. Li;G. Gao;K. Zhang;J. L. Huang
本研究旨在探讨中国蒙古族人群中无名指蛋白41 (RNF41) c.-206 T > A变异与先天性心脏病(CHD)易感性之间的关系。 RNF41 基因 c.-206 T > A 多态性与 CHD 之间的关联在两项独立的病例对照研究中进行了检查，该研究由 219 名 CHD 患者和 208 名健康对照组成。通过PCR产物的直接测序确定基因型。我们发现RNF41 c.-206 T > A的基因型频率在两组之间存在显着差异（P < 0.05）。 CHD组TT和TA基因型分别为80.67%和19.33%。另一方面，对照组中TT和TA的频率分别为94.44%和5.56%。此外，CHD患者的等位基因频率（T，90.34％；A，9.66％）与非CHD对照者（T，97.22％；A，2.78％；χ2 = 4.031，P = 0.041）相比存在显着差异。我们的研究表明，RNF41 c.-206 T > A 多态性可能是中国蒙古族人群先天性心脏病的危险因素。
This study aimed to explore the association between ring finger protein 41 (RNF41) c.-206 T > A variant and susceptibility to congenital heart disease (CHD) in the Chinese Mongolian population. The association between RNF41 gene c.-206 T > A polymorphism and CHD was examined in two independent case-control studies consisting of 219 CHD patients and 208 healthy controls. Genotype was determined by direct sequencing of PCR products. We found that the genotype frequencies of RNF41 c.-206 T > A differ significantly between the two groups (P < 0.05). The TT and TA genotypes in the CHD group were 80.67 and 19.33%, respectively. On the other hand, the frequencies of TT and TA in the control group were 94.44 and 5.56%, respectively. Furthermore, the allelic frequencies of CHD patients (T, 90.34%; A, 9.66%) were significantly different as compared with those of non-CHD controls (T, 97.22%; A, 2.78%; χ2 = 4.031, P = 0.041). Our study demonstrates that the RNF41 c.-206 T > A polymorphism may be a risk factor for congenital heart disease in the Chinese Mongolian population.
DOI：
10.1073/pnas.0600158103
发表时间：
2006-04-18
影响因子：
11.1
作者：
Chiang, AP;Beck, JS;Sheffield, VC
通讯作者：
Sheffield, VC
影响因子：
5
作者：
Sandri, Marco;Robbins, Jeffrey
通讯作者：
Robbins, Jeffrey