Association of HLA-DRB1*15:02:01, DQB1*05:01:24 and DPB1*13:01:01 in Thai patients with systemic sclerosis. - OpacWWW

Tytuł:: Association of HLA-DRB1*15:02:01, DQB1*05:01:24 and DPB1*13:01:01 in Thai patients with systemic sclerosis.
Autorzy:: Louthrenoo W; Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Kasitanon N; Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Wongthanee A; Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Okudaira Y; GenoDive Pharma Inc., Naka-cho Honatugi, Kanagawa, Japan.
Takeuchi M; Graduate School of Human Development and Environment, Kobe University, Kobe, Japan.
Nakajima F; GenoDive Pharma Inc., Naka-cho Honatugi, Kanagawa, Japan.
Habata M; GenoDive Pharma Inc., Naka-cho Honatugi, Kanagawa, Japan.
Masuya A; GenoDive Pharma Inc., Naka-cho Honatugi, Kanagawa, Japan.
Noguchi H; School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka, Japan.
Inoko H; GenoDive Pharma Inc., Naka-cho Honatugi, Kanagawa, Japan.
Takeuchi F; School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka, Japan.
Źródło:: HLA [HLA] 2022 Dec; Vol. 100 (6), pp. 563-581. Date of Electronic Publication: 2022 Sep 09.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Original Publication: Oxford : Wiley Blackwell, [2016]-
MeSH Terms:: Scleroderma, Systemic*/diagnosis
Scleroderma, Systemic*/genetics
Humans ; Alleles ; Gene Frequency ; Haplotypes ; HLA-DQ beta-Chains/genetics ; HLA-DRB1 Chains/genetics ; Thailand
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Contributed Indexing:: Keywords: HLA; genetics; haplotypes; immuno-genetics; systemic sclerosis
Substance Nomenclature:: 0 (HLA-DQ beta-Chains)
0 (HLA-DRB1 Chains)
0 (HLA-DPB1 antigen)
Entry Date(s):: Date Created: 20220902 Date Completed: 20221122 Latest Revision: 20221129
Update Code:: 20240105
DOI:: 10.1111/tan.14793
PMID:: 36054790
: Czasopismo naukowe

Pełny tekst

HLA studies in patients with systemic sclerosis (SSc) have shown variable results. This study aimed to examine the association of HLA class I and II risk alleles in Thai SSc patients, and clarify the contribution of risk HLA alleles to the pathogenesis and clinical manifestations. Blood samples from 92 SSc patients and 135 healthy controls (HCs) were collected. Eleven loci of the HLA class I (HLA-A, B, and C) and class II (HLA-DR, DP, and DQ) genes were determined by a 3-field (6-digit) analysis using the Next Generation DNA Sequencing (NGS) method. Anti-topoisomerase-I antibodies (ATA) and anti-centromere antibodies (ACA) were identified by ELISA methods. Allele frequencies (AFs) of HLA-DRB1*15:02:01, DRB5*01:02:01, DQB1*05:01:24, DPB1*13:01:01, and DQA1*01:01:01 were increased significantly in the whole SSc and SSc patients with positive ATA, but with negative ACA (SSc/ATA+/ACA-). Of these, DPB1*13:01:01 was the most susceptible allele. The DRB1*15:02:01, DQB1:05:01:24, and DPB1*13:01:01 alleles were estimated to locate on the unique haplotype, and haplotype frequency was estimated to be significantly higher than those in the HCs (p = 0.002). The linkage analysis of DRB1*15/16 revealed that most of the DRB1*15:02:01 alleles were linked to DRB5*01:02:01 or DRB5*01:08:01N. The linkage of DRB1*16:02:01 to DRB5*01:01:01 was observed frequently. The associations of risk alleles with several SSc clinical features were observed. HLA-DRB1*15:02:01, DRB5*01:02:01, DQB1*05:01:24, and DPB1*13:01:01 on the unique haplotype were associated with the pathogenesis and clinical features of SSc in Thai patients. The linkage of DRB1*15:02:01 to DRB5*01:08:01N was observed commonly in northern Thai patients.
(© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

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Informacja

Association of HLA-DRB115:02:01, DQB105:01:24 and DPB1*13:01:01 in Thai patients with systemic sclerosis.