PMID- 37781395
OWN - NLM
STAT- MEDLINE
DCOM- 20231003
LR  - 20231003
IS  - 1664-3224 (Electronic)
IS  - 1664-3224 (Linking)
VI  - 14
DP  - 2023
TI  - Human leukocyte antigen association in systemic sclerosis patients: our 
      experience at a tertiary care center in North India.
PG  - 1179514
LID - 10.3389/fimmu.2023.1179514 [doi]
LID - 1179514
AB  - INTRODUCTION: Systemic sclerosis (SSc) is a chronic multisystem autoimmune 
      rheumatic disease of unknown etiology. Several studies have established that SSc 
      is triggered by a dynamic interplay between genetic factors and environmental 
      stimuli. In the present study, we aimed to study the association of human 
      leukocyte antigen (HLA) with familial and non-familial SSc patients [limited 
      cutaneous SSc (lcSSc) and diffuse cutaneous SSc (dcSSc)] from North India. 
      METHODS: The HLA-A, B, DRB1, and DQB1 genotyping of 150 (70 lcSSc and 80 dcSSc) 
      adult-onset SSc patients and 150 age-gender-matched healthy controls were 
      performed with sequence-specific oligonucleotide (SSO) typing kits using the 
      luminex platform. HLA typing for HLA class I (A, B, and C) and II (DRB1, DQB1, 
      and DPB1) in five North Indian families consisting of parent-child/sibling pairs 
      affected with SSc or overlap syndrome was performed by Next Generation Sequencing 
      (NGS) with Illumina MiniSeq. RSEULTS: Among the non-familial SSc patients, HLA- 
      DRB1*11 (P = 0.001, OR: 2.38, P (c) = 0.01) was identified as a risk allele, and 
      DRB1*12 (P = .0001, OR: 0.00, P (c) = 0.001) as a protective allele. There was no 
      statistical association found with HLA-DQB1*. Also, no significant association 
      was observed between HLA antigens and different clinical subsets (lcSSc and 
      dcSSc) of SSc. Two cases of familial SSc patients had the DRB1*11 allele. The 
      DRB1*12 allele was absent in all the familial SSc patients. DISCUSSION: HLA 
      DRB1*11 (risk allele) and DRB1*12 (protective allele) were found to be strongly 
      associated with non-familial SSc patients and partially explain the disease's 
      familial clustering, supporting the susceptible genetic background theory for SSc 
      development. The study also indicates the HLA allele as a common genetic risk 
      factor in distinct autoimmune diseases contributing to overlap syndrome or 
      polyautoimmunity.
CI  - Copyright (c) 2023 Machhua, Sharma, Kumar, Singh, Aggarwal, Anand, Kumar, Singh and 
      Minz.
FAU - Machhua, Sanghamitra
AU  - Machhua S
AD  - Department of Immunopathology, Post Graduate Institute of Medical Education and 
      Research, Chandigarh, India.
FAU - Sharma, Shefali Khanna
AU  - Sharma SK
AD  - Department of Internal Medicine, Postgraduate Institute of Medical Education and 
      Research, Chandigarh, India.
FAU - Kumar, Yashwant
AU  - Kumar Y
AD  - Department of Immunopathology, Post Graduate Institute of Medical Education and 
      Research, Chandigarh, India.
FAU - Singh, Surjit
AU  - Singh S
AD  - Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, 
      Post Graduate Institute of Medical Education and Research, Chandigarh, India.
FAU - Aggarwal, Ritu
AU  - Aggarwal R
AD  - Department of Immunopathology, Post Graduate Institute of Medical Education and 
      Research, Chandigarh, India.
FAU - Anand, Shashi
AU  - Anand S
AD  - Department of Immunopathology, Post Graduate Institute of Medical Education and 
      Research, Chandigarh, India.
FAU - Kumar, Manoj
AU  - Kumar M
AD  - Department of Immunopathology, Post Graduate Institute of Medical Education and 
      Research, Chandigarh, India.
FAU - Singh, Heera
AU  - Singh H
AD  - Department of Immunopathology, Post Graduate Institute of Medical Education and 
      Research, Chandigarh, India.
FAU - Minz, Ranjana Walker
AU  - Minz RW
AD  - Department of Immunopathology, Post Graduate Institute of Medical Education and 
      Research, Chandigarh, India.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230913
PL  - Switzerland
TA  - Front Immunol
JT  - Frontiers in immunology
JID - 101560960
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (HLA-DRB1 Chains)
SB  - IM
MH  - Adult
MH  - Humans
MH  - Tertiary Care Centers
MH  - *Scleroderma, Systemic/genetics
MH  - Histocompatibility Antigens Class I
MH  - *Scleroderma, Diffuse
MH  - HLA-DRB1 Chains/genetics
PMC - PMC10533912
OTO - NOTNLM
OT  - HLA
OT  - SSc
OT  - dcSSc
OT  - lcSSc
OT  - phenotype
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- 2023/10/02 06:42
MHDA- 2023/10/03 06:47
PMCR- 2023/01/01
CRDT- 2023/10/02 04:44
PHST- 2023/03/04 00:00 [received]
PHST- 2023/06/26 00:00 [accepted]
PHST- 2023/10/03 06:47 [medline]
PHST- 2023/10/02 06:42 [pubmed]
PHST- 2023/10/02 04:44 [entrez]
PHST- 2023/01/01 00:00 [pmc-release]
AID - 10.3389/fimmu.2023.1179514 [doi]
PST - epublish
SO  - Front Immunol. 2023 Sep 13;14:1179514. doi: 10.3389/fimmu.2023.1179514. 
      eCollection 2023.