Molecular typing of HLA-class II alleles reveals an association with autoantibodies and disease subsets of systemic sclerosis in a North Indian (Kashmir) population

• Published in: Egyptian rheumatologist 2023-06, Vol.45 (3), p.247-253
• Main Authors: Ayub, Sakeena, Shah, Zafar, Shafi, Tabasum, Sofi, Fayaz, Bhat, Imtiyaz, Rasool, Roohi, Dangroo, Mushtaq, Baba, Shahid, Ismail, Nasia, Majid, Nahidah
• Format: Article
• Language: English
• Subjects: Auto-antibodies; Disease subsets; HLA-class II alleles; Systemic sclerosis
• ISSN: 1110-1164; 2090-2433
• DOI: 10.1016/j.ejr.2023.04.007

To identify specific human leukocyte antigen (HLA)-Class II (DRB/DQB1/DPB1) alleles associated with systemic sclerosis (SSc) and to explore their relation with SSc autoantibodies, clinical manifestations, and disease subsets. HLA-class II alleles (DRB1/DRB3/DRB4/DRB5/DQB1) were determined by DNA typing in 80 SSc cases and 60 matched controls and HLA-DPB1 in 40 SSc patients and 30 controls by allele-specific-polymerase chain reaction with sequence-specific primers (PCR-SSP). The mean age of SSc patients was 36.9 ± 9.4 years; 76 females and 4 males (F:M 19:1) and a disease duration of 5.3 ± 3.3 years, they were 43(53.7%) limited and 37(46.2%) diffuse subtypes. SSc was significantly associated with DRB1*11, DRB1*01, DQB1*04, and DQB1*03*03 in a >4-fold manner, whereas DPB1*04 had a >7-fold increased risk compared to controls. There was a strong association between DRB1*11 (p = 0.04), DQB1*03*03 (p = 0.005), and DPB1*13 (p = 0.009) with anti-topoisomerase I (anti-topoI) whereas the frequency of DRB1*01 (p