Molecular Therapy: Nucleic Acids (Dec 2018)

Epistatic Association of CD14 and NOTCH2 Genetic Polymorphisms with Biliary Atresia in a Southern Chinese Population

  • Zefeng Lin,
  • Xiaoli Xie,
  • Huiting Lin,
  • Ming Fu,
  • Liang Su,
  • Yanlu Tong,
  • Hongjiao Chen,
  • Hezhen Wang,
  • Jinglu Zhao,
  • Huimin Xia,
  • Yan Zhang,
  • Ruizhong Zhang

Journal volume & issue
Vol. 13
pp. 590 – 595


Read online

Biliary atresia (BA) is the most common cause of endstage liver disease in infants with poor prognosis and high mortality. The etiology of BA is still unknown, but the genetic factors have been considered as an important player in BA. We investigated the association of two cis-regulated variants in CD14 (rs2569190) and NOTCH2 (rs835576) with BA susceptibility, using the largest case-control cohort, totaling 506 BA patients and 1,473 healthy controls in a Southern Chinese population. Significant epistatic interaction between the two variants in our samples was observed (p = 8.1E−03; OR = 2.78; 95% CI: 1.32–5.88). The expression of CD14 and NOTCH2 in the BA group was consistently lower than that in the control (CC) group (0.31 ± 0.02 versus 1.00 ± 0.14; p < 0.001), which might be related to the genetic susceptibility of the genes awaiting further validation. Keywords: CD14, Notch2, biliary atresia, epistasis