RGD Reference Report - HLA-DRA polymorphisms associated with risk of nasal polyposis in asthmatic patients. - Rat Genome Database

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HLA-DRA polymorphisms associated with risk of nasal polyposis in asthmatic patients.

Authors: Kim, Jeong-Hyun  Park, Byung-Lae  Cheong, Hyun Sub  Pasaje, Charisse Flerida A  Bae, Joon Seol  Park, Jong Sook  Uh, Soo-Taek  Kim, Yong-Hoon  Kim, Mi-Kyeong  Choi, Inseon S  Choi, Byoung Whui  Park, Choon-Sik  Shin, Hyoung Doo 
Citation: Kim JH, etal., Am J Rhinol Allergy. 2012 Jan-Feb;26(1):12-7. doi: 10.2500/ajra.2012.26.3692.
RGD ID: 13506908
Pubmed: (View Article at PubMed) PMID:22391069
DOI: Full-text: DOI:10.2500/ajra.2012.26.3692

BACKGROUND: Nasal polyps, part of the aspirin triad symptoms, are edematous protrusions arising from the mucosa of the nasal sinuses. Although the causative factors and pathogenesis of the polyps are unknown, the significant effect of human leukocyte antigen-DR (HLA-DR) expression in nasal polyps and genetic associations of the major histocompatibility complex class II, DR alpha (HLA-DRA) with immune-mediated diseases have been revealed.
METHODS: To investigate the associations of HLA-DRA polymorphisms with nasal polyposis in asthmatic patients and in aspirin-hypersensitive subgroups, 22 single nucleotide polymorphisms (SNPs) were genotyped in a total of 467 asthmatic patients including 158 nasal polyp-positive and 309 polyp-negative subjects.
RESULTS: Statistical analysis showed that four SNPs (p = 0.0005-0.02; Pcorr = 0.009-0.033) and one haplotype (p = 0.002; Pcorr = 0.029) were significantly associated with the presence of nasal polyposis in asthmatic patients. In further analysis, although significant signals disappeared after corrections for multiple testing, two HLA-DRA polymorphisms (rs9268644C>A, rs3129878A>C) were found to be potential markers for nasal polyp development in aspirin-tolerant asthma (p = 0.005 and 0.007, respectively) compared with the aspirin-exacerbated respiratory disease (p > 0.05) subgroup. In silico analysis predicted major "C" allele of rs14004C>A in 5'-untranslated region as a potential binding site for regulatory glucocorticoid receptor. In addition, sequence nearby rs1051336G>A is suspected to be a pyrimidine-rich element that affects mRNA stability.
CONCLUSION: Despite the need for replication in larger cohorts and/or functional evaluations, our findings suggest that HLA-DRA polymorphisms might contribute to nasal polyposis susceptibility in patients with asthma.

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
RT1-Da  (RT1 class II, locus Da)

Genes (Mus musculus)
H2-Ea  (histocompatibility 2, class II antigen E alpha)

Genes (Homo sapiens)
HLA-DRA  (major histocompatibility complex, class II, DR alpha)

Additional Information