Backgrounds: Biliary atresia (BA) is a very rare neonatal disease, however, it has been the most common cause of obstructive jaundice in infancy. The complex pathogenesis of BA is not entirely clear and a lot of possible pathogenic mechanisms have been proposed to explain the aetiology of BA, including genetic, inflammatory, environmental and developmental abnormalities. As a transcription factor, USF2 gene rs916145 polymorphism has been shown to be related to the risk of BA. Methods: We examined the USF2 rs916145 genotype in a large case-control study consisting of 506 BA patients and 1473 healthy controls, using the MassARRAY iPLEX Gold system (Sequenom). Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the association between the USF2 gene rs916145 polymorphism and BA susceptibility. Results: The frequency of different genotypes showed no statistical significance (GG/GC, odds ratio, 1.09, P = 0.470, 95% CI, 0.87-1.35; GG/CC, odds ratio, 0.86, P = 0.378, 95% CI, 0.62-1.20). No obvious association was revealed between the USF2 gene rs916145 polymorphism and BA susceptibility. Conclusions: USF2 rs916145 polymorphism may not be the best predictor of biliary atresia.

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