https://pubmed.ncbi.nlm.nih.gov/37250880/ autoimmune liver disease

J Clin Exp Hepatol. 2023 May-Jun;13(3):397-403.
doi: 10.1016/j.jceh.2023.01.001.Epub 2023 Jan 5.

Association of HLA DRB1 Allele Profile with Pediatric Autoimmune Liver Disease in India

Arjun Maria 1, Vikrant Sood 1, Rajeev Khanna 1, Bikrant B Lal 1, Nirupama Trehanpati 2, Seema Alam 1

Abstract
Objectives: The aim of this study is to study the association of human leukocyte antigen (HLA) DRB1 alleles with treatment response in Indian children with autoimmune liver disease (AILD).

Methods: HLA DRB1 alleles of 71 Indian children with pediatric AILD (pAILD) were analyzed along with 25 genetically confirmed patients with Wilson disease as controls. After 1 year of therapy, all those who failed to normalize aspartate & alanine transferase (AST/ ALT) (below 1.5 times of upper limit of normal) and/or failed to normalize IgG levels, or who had >2 relapses (AST/ALT levels >1.5 times of upper limit of normal) while on treatment, were labeled as difficult to treat (DTT).

Results: HLA DRB1∗3 was found to be significantly associated with AIH type 1 (46.2% vs. 4% in controls; P corrected = 0.011). Majority of the patients [55 (77.5%)] had chronic liver disease at presentation, with 42 (59.2%) having portal hypertension and 17 (23.9%) having ascites. Out of the 71 with pAILD, 19 (26.8%) were DTT. HLA DRB1∗14 was found to be independently associated with DTT cases (36.8% vs. 9.6%, OR 5.87, 95% CI 1.07-32.09, P = 0.041). Other factors independently associated with DTT were presence of autoimmune sclerosing cholangitis (OR 8.57, P = 0.008) and high-risk varices (OR 7.55, P = 0.016), improving the correctness of classification of the model from 73.2% to 84.5%.

Conclusion: HLA DRB1∗14 is independently associated with treatment response in pAILD and HLA DRB1∗3 is associated with AIH type 1. HLA DRB1 alleles may thus provide supportive information for diagnosis and prognosis of AILD.