PMID- 36741403 OWN - NLM STAT- MEDLINE DCOM- 20230209 LR - 20230217 IS - 1664-3224 (Electronic) IS - 1664-3224 (Linking) VI - 13 DP - 2022 TI - HLA and Non-HLA gene polymorphisms in autoimmune hepatitis patients of North Indian adults. PG - 984083 LID - 10.3389/fimmu.2022.984083 [doi] LID - 984083 AB - Autoimmune hepatitis (AIH) is a chronic and progressive disease of the liver. This is a multifactorial autoimmune disease with both environmental factors and genetic factors playing a role in its pathogenesis. Certain environmental agents like viruses, drugs, etc., can trigger the disease in a genetically susceptible individual. The present study was aimed to explore the distribution of human leukocyte antigen (HLA)-DRB1, Protein tyrosine phosphatase non-receptor type 22 (PTPN22) and Cytotoxic T-Lymphocyte-associated protein 4 (CTLA-4) polymorphisms in North Indian adult AIH patients and their associations with clinical and pathological characteristics associated with the disease. A total of 147 subjects with 47 cases and 100 healthy controls were enrolled. Diagnosis of AIH was made by Revised International Autoimmune Hepatitis Group scoring system. HLA-DRB1 Typing was done by Luminex-based reverse Sequence-Specific Oligonucleotide Probing (SSOP). Single nucleotide variant (SNV) genotyping for CTLA-4 and PTPN22 was done by simple probe-based SNP arrays. Results indicated SLA positive AIH patients are poor responders to therapy. A significant predispositional association of HLA-DRB1*03 was observed in AIH patients from the North Indian population (p= 0.0001, OR=4.83 (2.30-10.15). The frequency of the GG genotype of CTLA-4 CT 60 was significantly increased in AIH patients compared to controls. Multinomial analysis showed that CTLA-4 CT 60 is an independent predictor for cases. CI - Copyright (c) 2023 Ahuja, Singh, Minz, Anand, Das and Taneja. FAU - Ahuja, Nishtha AU - Ahuja N AD - Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. FAU - Singh, Jagdeep AU - Singh J AD - Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. FAU - Minz, Ranjana Walker AU - Minz RW AD - Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. FAU - Anand, Shashi AU - Anand S AD - Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. FAU - Das, Ashim AU - Das A AD - Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. FAU - Taneja, Sunil AU - Taneja S AD - Department of Hepatology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. LA - eng PT - Journal Article DEP - 20230118 PL - Switzerland TA - Front Immunol JT - Frontiers in immunology JID - 101560960 RN - 0 (CTLA-4 Antigen) RN - 0 (HLA-DRB1 Chains) RN - EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 22) RN - EC 3.1.3.48 (PTPN22 protein, human) SB - IM MH - Adult MH - Humans MH - *CTLA-4 Antigen/genetics MH - Genotype MH - *Hepatitis, Autoimmune/genetics MH - HLA-DRB1 Chains/genetics MH - Polymorphism, Genetic MH - *Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics PMC - PMC9891307 OTO - NOTNLM OT - CTLA-4 OT - HLA OT - PTPN22 OT - SLA OT - adults OT - autoimmune hepatitis OT - polymorphisms COIS- The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2023/02/07 06:00 MHDA- 2023/02/08 06:00 PMCR- 2022/01/01 CRDT- 2023/02/06 03:30 PHST- 2022/07/01 00:00 [received] PHST- 2022/12/28 00:00 [accepted] PHST- 2023/02/06 03:30 [entrez] PHST- 2023/02/07 06:00 [pubmed] PHST- 2023/02/08 06:00 [medline] PHST- 2022/01/01 00:00 [pmc-release] AID - 10.3389/fimmu.2022.984083 [doi] PST - epublish SO - Front Immunol. 2023 Jan 18;13:984083. doi: 10.3389/fimmu.2022.984083. eCollection 2022.