What is it about?
The HLA DR8 allele associated with primary biliary cholangitis (PBC) among Caucasians and Asians is of low frequency in the Sardinian population. Nevertheless, Sardinians are not spare from suffering of PBC. Why ? Our study found out that in Sardinia, PBC is associated with different HLA class II genes, the HLADR3-DQ2 haplotype, which is responsible for the Sardinian high genetic susceptibility to clinically overt autoimmune diseases, including type 1 diabetes, Hashimoto’s thyroiditis, celiac disease and multiple sclerosis.
Featured Image
Why is it important?
This is the first study on HLA class II alleles in a cohort of Sardinian PBC patients, where for the first time significant differences emerged compared with PBC patients in continental Italian or other Caucasian populations.
Perspectives
A same immune-mediated disorder appears associated to different HLA haplotypes, further confirming that HLA associations with diseases might vary depending on the geographical areas. Besides HLAassociations, other unknown genetic, epigenetic, and environmental factors, including an infectious agent/s, might be implicated in the pathogenesis and clinical evolution of PBC or other autoimmune diseases.
Dr. Maria Grazia Clemente
University of Sassari
Read the Original
This page is a summary of: Distinctive HLA-II association with primary biliary cholangitis on the Island of Sardinia, United European Gastroenterology Journal, August 2016, SAGE Publications,
DOI: 10.1177/2050640616665030.
You can read the full text:
Contributors
The following have contributed to this page
