Association of two toll-like receptor 4 single nucleotide polymorphisms with biliary atresia in Chinese patients

作者：Yang, Yifan; Wang, Wei; Dong, Rui; Chen, Gong; Shen, Zhen; Jin, Zhu; Zheng, Shan^*

来源：International Journal of Clinical and Experimental Pathology, 2016, 9(2): 2340-2344.

• Biliary atresia
• polymorphism
• toll-like receptor 4

Biliary atresia (BA) is a disease of the liver characterized by progressive fibro-inflammatory obliteration of the biliary tree in neonates. Toll-like receptor 4 (TLR4) is expressed in human biliary epithelial cells and mediates innate and adaptive immune responses. To evaluate the potential association between TLR4 gene polymorphisms and BA in the Chinese population, a case-control study was conducted with 113 patients with BA and 133 healthy controls. The rs10759930 and rs2149356 SNPs in the TLR4 gene were selected for genotyping by the Sequenom MassARRAY platform (Sequenom; San Diego, CA, USA). There was no significant differences between BA and controls in allele distribution (rs10759930, P = 0.369, OR = 1.180, 95% CI = 0.822-1.694; rs2149356, P = 0.416, OR = 0.861, 95% CI = 0.599-1.236), and similar results were found in genotype and haplotype frequencies of these TLR4 gene polymorphisms. Our results indicated that, for the first time, the TLR4 gene polymorphisms analyzed do not appear to play a major role in the development of BA in Chinese children.

• 出版日期2016
• 单位复旦大学