X chromosome contribution to the genetic architecture of primary biliary cholangitis

ABSTRACT Background & aims Genome-wide association studies (GWAS) in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually-dimorphic complex autoimmune disease. Methods We performed a chrX-wide association study (XWAS), including genotype data from five GWAS (from Italy, UK, Canada, China, Japan; 5,244 cases, 11,875 controls). Results Single-marker association analyses found ∼100 loci displaying P Conclusion This work represents the first comprehensive study of the chrX contribution to the genetics of an autoimmune liver disease and revealed a novel PBC-related genome-wide significant locus.