ABSTRACT
OBJECTIVE: Respiratory scleroma (RS) is a progressive, chronic, granulomatous disease caused by Klebsiella rhinoscleromatis. There is only one report of RS association with HLA-DQ3. In this study, molecular association of HLA class II and RS was determined. STUDY DESIGN AND SETTING: Nine RS patients and 163 healthy controls were compared. DQA1, DQB1, and DRB1 loci were typed. RESULTS: Statistical analysis demonstrated association between DQB1*0301 and susceptibility to RS (P(c) = 0.004). Haplotype analysis showed an association of DQA1*03011-DQB1*0301 (P = 1.21E-19) and DRB1*0407-DQA1*03011-DQB1*0301 (P = 0.0002). CONCLUSIONS: Results established that DQA1*03011-DQB1*0301 haplotype is a strong risk factor for development of RS.
Subject(s)
HLA-DQ Antigens/genetics , Rhinoscleroma/genetics , Adult , Chromosome Mapping , Female , Gene Frequency/genetics , Genetic Predisposition to Disease/genetics , Genotype , HLA-DQ alpha-Chains , HLA-DQ beta-Chains , HLA-DR Antigens/genetics , HLA-DRB1 Chains , Haplotypes , Humans , Male , Middle Aged , Risk FactorsABSTRACT
OBJECTIVE: The aim of this study was to determine the contribution of the human major histocompatibility complex (HLA)-DQA1, -DQB1, and TNFalpha genes with simple nasal polyposis. STUDY DESIGN AND SETTING: A comparative case-control study with 31 patients and 151 controls was performed. HLA-DQA1, -DQB1, and TNFalpha -238 promoter position loci were typed by polymerase chain reaction (PCR) and sequence specific oligonucleotide probes (SSOPs). TNFalpha -308 promoter position was determined by PCR and digestion with NcoI restriction enzyme. RESULTS: The allele HLA-DQA1*0201 (P(c) = 0.019) had an etiologic fraction (EF) of 17%, whereas 13% EF was found for the haplotype HLA-DQA1*0201-DQB1*0201 (P = 0.016). Analysis of -DQB1 and TNFalpha promoter did not show significant differences between cases and controls. CONCLUSIONS: HLA-DQA1*0201-DQB1*0201 haplotype is involved in susceptibility, conferring 5.53 times more risk of developing this disease. EBM RATING: B-2b.