Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis.

ABSTRACT:

Background

Biliary Atresia (BA) is rare and genetically complex, and the pathogenesis is elusive. The disease course is variable and can represent heterogeneity, which hinders effective disease management. Deciphering the BA phenotypic variance is a priority in clinics and can be achieved by the integrative analysis of genotype and phenotype. We aim to explore the BA phenotypic features and to delineate the source of its variance.

Methods

The study is a cross-sectional observational study collating with case/control association analysis. One-hundred-and-eighty-one type III non-syndromic BA patients and 431 controls were included for case-control association tests, including 89 patients (47.19% males, born June 15th, 1981 to September 17th, 2007) have detailed clinical record

SUBMITTER: Cheng G 

PROVIDER: S-EPMC5392958 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature