Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients.

Abstract:

:Mixed connective tissue disease (MCTD) is a systemic autoimmune disease, originally defined as a connective tissue inflammatory syndrome with overlapping features of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), polymyositis/dermatomyositis (PM/DM) and systemic sclerosis (SSc), characterized by the presence of antibodies against components of the U1 small nuclear ribonucleoprotein (U1snRNP). The aim of the study was to assess the frequency of (high-resolution-typed) DRB1 alleles in a cohort of Polish patients with MCTD (n = 103). Identification of the variants potentially associated with risk and protection was carried out by comparison with the DKMS Polish Bone Marrow Donor Registry (41306 alleles). DRB1*15:01 (odds ratio (OR): 6.06; 95% confidence interval (CI) 4.55-8.06), DRB1*04 (OR: 3.69; 95% CI 2.69-5.01) and *09:01 (OR: 8.12; 95% CI 2.15-21.75) were identified as risk alleles for MCTD, while HLA-DRB1*07:01 allele was found to be protective (OR: 0.50; 95% CI 0.28-0.83). The carrier frequency of the DRB1*01 was higher in MCTD patients compared with controls, although the differences were not statistically significant. Our results confirm the modulating influence of HLA-DRB1 genotypes on development of connective tissue diseases such as MCTD.

journal_name

HLA

journal_title

HLA

authors

Paradowska-Gorycka A,Stypińska B,Olesińska M,Felis-Giemza A,Mańczak M,Czuszynska Z,Zdrojewski Z,Wojciechowicz J,Jurkowska M

doi

10.1111/tan.12698

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

13-8

issue

1

eissn

2059-2302

issn

2059-2310

journal_volume

87

pub_type

杂志文章

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