Screening of familial primary biliary cholangitis and research on low-frequency mutations by whole-exome sequencing / 中华肝脏病杂志

ABSTRACT

Objective@#Screening of patients with familial primary biliary cholangitis by using whole-exome sequence to find common low-frequency mutations and to explore its pathogenesis. @*Methods@#The confirmed data of PBC patients diagnosed in Xijing hospital from 2005 to 2016 were collected, and their first-degree relatives' autoantibodies were screened for diagnosis. DNA extraction from PBC patients and normal controls in two high-incidence families was performed for whole-exome sequencing, and the low-frequency mutations in the family were screened. @*Results@#A total of 435 PBC patients and 946 first-degree relatives were screened, and 18 (1.90%) first-degree relatives were also diagnosed with PBC, which was distributed in 16 families (3.68%). The whole-exome sequencing results showed that the common low-frequency mutations of 7 patients in 2 families consisted of 16 single nucleotide polymorphisms and 2 InDel markers, of which ANO2(rs17788563) may be correlated to the pathogenesis of PBC. @*Conclusion@#There is high-incidence of PBC in the family members of PBC patients with low-frequency mutation sites and their sites may be involved in the pathogenesis of PBC.