HLA-B, DR and DQ antigens polymorphism in Tunisian patients with ankylosing spondylitis (a case-control study).

Mohamed Montacer Kchir, Wafa Hamdi, Lilia Laadhar, Samir Kochbati, Dhia Kaffel, Kaouthar Saadellaoui, Houria Lahmar, Mohamed Mehdi Ghannouchi, Dhouha Azzouz, Lilia Daoud, Abdelmajid Ben Hamida, Béchir Zouari, Mondher Zitouni, Sondes Makni
Author Information
  1. Mohamed Montacer Kchir: Spinal Diseases Research Unit, UR04SP06, Department of Rheumatology, Institute M Kassab, Manouba, 2010, Tunisia.

Abstract

The objective of the study is to assess the distribution of HLA-B genes, HLA-B27 subtypes, HLA-DRB1 and HLA-DQB1 alleles in patients with ankylosing spondylitis (AS) and in control subjects in the Tunisian population and to compare their distribution with that found in other countries. This is a case-control study that included 100 consecutive patients (85 males/15 females) with AS according to the modified New York criteria and 100 control individuals. HLA-B, B27 subtypes and class II (DR and DQ) typing of all subjects was performed by polymerase chain reaction amplification with sequence-specific primers (PCR-SSP). HLA-B27 was found in 62% of patients against 3% in controls (P = 0.0000, OR = 52.6, 15.6 < CI < 166.7). On the other hand, B*07 and B*51 were significantly decreased in comparison with controls (P = 0.01, OR = 0.3, 0.1 < CI < 0.8 and P = 0.0000, OR = 0.2, 0.1 < CI < 0.4, respectively). Eight B*27 subtypes were identified in the AS group, but the most frequent ones were B*2702 (32%) and B*2705 (24%). Among HLA-DRB1 alleles, a significant increase in DRB1*11 was found in comparison with controls (P = 0.01, OR = 2.2, 1.2 < CI < 4.5). However, DRB1*13 had a negative association with AS (P = 0.01, OR = 0.4, 0.2 < CI < 0.8). For HLA-DQB1 alleles, a significant positive association with DQB1*03 was observed in AS group (P = 0.03, OR = 1.8, 1.0 < CI < 3.4). Multivariate analysis by logistic regression revealed that DRB1*11 and DQB1*03 had no direct links with the disease, but were dependent on the presence of HLA-B27. Moreover, B*07 and B*51 seemed to have independently a negative correlation with AS, but DRB1*13 seemed to depend on B*51. Haplotypes carrying B27 were significantly associated with AS and those carrying B*07 or B*51 were negatively correlated with the disease. In conclusion, our study confirms that B27 predisposes to AS while B*07 and B*51 are negatively correlated with the disease.

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MeSH Term

Adolescent
Adult
Aged
Biomarkers
Case-Control Studies
DNA Mutational Analysis
Female
Gene Frequency
Genetic Markers
Genetic Predisposition to Disease
Genetic Testing
Genotype
HLA-B Antigens
HLA-B27 Antigen
HLA-DQ Antigens
HLA-DQ beta-Chains
HLA-DR Antigens
HLA-DRB1 Chains
Humans
Male
Middle Aged
Polymorphism, Genetic
Predictive Value of Tests
RNA, Messenger
Spondylitis, Ankylosing
Tunisia
Young Adult

Chemicals

Biomarkers
Genetic Markers
HLA-B Antigens
HLA-B27 Antigen
HLA-DQ Antigens
HLA-DQ beta-Chains
HLA-DQB1 antigen
HLA-DR Antigens
HLA-DRB1 Chains
RNA, Messenger

Word Cloud

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