HLA-DR and HLA-DQ are not markers for rapid disease progression in primary sclerosing cholangitis
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Published on: October 19, 2014
O Olerup1, R Olsson, R Hultcrantz
1Center for BioTechnology, Karolinska Institute, NOVUM, Huddinge, Sweden.
Insights
Genetic susceptibility to primary sclerosing cholangitis (PSC) is linked to HLA class II alleles. This study confirms the DRB1*1301, DQA1*0103, DQB1*0603 haplotype association but finds no evidence that HLA alleles predict disease progression.
Area of Science:
- Immunogenetics
- Gastroenterology
- Autoimmune Diseases
Background:
- Primary sclerosing cholangitis (PSC) has a known association with the HLA haplotype A1, B8, DR3, DQ2.
- Recent studies suggested additional HLA associations and specific HLA-DR types as markers for rapid PSC progression.
- This study aimed to critically evaluate current, often unconfirmed, HLA class II associations in PSC.
Purpose of the Study:
- To confirm or refute suggested HLA class II associations in primary sclerosing cholangitis (PSC).
- To investigate whether specific HLA-DR and HLA-DQ alleles are associated with disease progression in PSC patients.
Main Methods:
- Genotyping of HLA-DR and HLA-DQ alleles in 75 Swedish patients with PSC.
- Statistical analysis to evaluate associations between specific HLA alleles and PSC.
Main Results:
- The association of the DRB1*1301, DQA1*0103, DQB1*0603 haplotype with PSC was confirmed.
- No significant association was found for DRB1*04 or DR2 alleles.
- HLA-DR and HLA-DQ alleles were not identified as markers for disease progression in this cohort.
Conclusions:
- The genetic susceptibility to PSC is not attributable to specific amino acid positions in DR beta chains.
- Discrepant findings highlight the need for further research, but current evidence suggests HLA class II alleles do not predict aggressive PSC clinical courses.
Background/Aims:
The association between primary sclerosing cholangitis (PSC) and the HLA haplotype A1, B8, DR3, DQ2 is well established. During the last few years, several additional HLA associations have been suggested in PSC. Furthermore, two different HLA-DR specificities have been reported to be markers for rapid disease progression. Our aim was to critically evaluate all of the current and as yet mostly unconfirmed HLA class II issues in PSC.
Methods:
Seventy-five Swedish patients with PSC were HLA-DR and HLA-DQ genotyped.
Results:
Of the recently described HLA associations in PSC, the association with the DRB1*1301, DQA1*0103, DQB1*0603 haplotype was decisively confirmed, whereas the DRB1*04 specificity was only slightly under-represented and the frequency of DR2 was neutral. The association with codon 38 of DRB genes was secondary to the DRB3*0101 association. HLA-DR and HLA-DQ alleles were not found to be markers of disease progression.
Conclusions:
The HLA-associated genetic susceptibility to PSC cannot be attributed to specific amino acid positions of the DR beta chains. The highly discrepant results obtained in two previously reported studies and the present investigation indicate that HLA class II alleles are not markers for a more aggressive clinical course in PSC.
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