A chromosome X-wide association study in primary biliary cholangitis allowed the identification of 5 novel susceptibility loci

Genome-wide association studies (GWAS) in primary biliary cholangitis (PBC) failed to find X chromosome genetic variants associated with the disease, but analytical problems arising from X unique mode of inheritance were not taken in account. Aim of our study was to explore the specific contribution of the X chromosome to the genetic architecture of PBC by performing a chromosome X-wide association study (XWAS).

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