Publications

X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

Published Date: 01st June 2021

Publication Authors: McLindon J

Background & Aims
Genome-wide association studies in primary biliary cholangitis (PBC) have failed tofind X chromosome (chrX) variants associated with the disease. Here, we specificallyexplore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease.

Methods
We performed a chrX-wide association study, including genotype data from 5 genome-wideassociation studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 casepatients and 11,875 control individuals).

 

Results
This work represents the first comprehensive study, to our knowledge, of the chrXcontribution to the genetics of an autoimmune liver disease and shows a novel PBC-relatedgenome-wide significant locus.

 

Conclusions
Rotavirus vaccination has reduced diarrhoeal disease morbidity and mortality substantial since licencing in 2006. Our finding from this large cohort study did not provide evidence that rotavirus vaccination prevents CD or T1D, nor is it associated with increased risk, delivering further evidence of rotavirus vaccine safety.


Asselta, R; McLindon, J; et al. (2021). X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis. Gastroenterology. 160 (7), 2483-2495.

 

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