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Genetic association analysis of TAP1 and TAP2 polymorphisms with aspirin exacerbated respiratory disease and its FEV1 decline.

Authors: Kim, JH  Park, BL  Pasaje, CF  Bae, JS  Park, JS  Park, SW  Uh, ST  Kim, MK  Choi, IS  Cho, SH  Choi, BW  Park, CS  Shin, HD 
Citation: Kim JH, etal., J Hum Genet. 2011 Jul 28. doi: 10.1038/jhg.2011.75.
Pubmed: (View Article at PubMed) PMID:21796142
DOI: Full-text: DOI:10.1038/jhg.2011.75

Aspirin exacerbated respiratory disease (AERD) induces bronchoconstriction in asthmatic patients characterized with a clinical condition of severe decline in forced expiratory volume in one second (FEV1) after ingestion of aspirin. Two genes consisting a heterodimer, transporter 1 and 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1 and TAP2) within the major histocompatibility complex (MHC) region, have been implicated in immunodeficiency and bronchiectasis development. To investigate the associations of TAP1 and TAP2 genetic polymorphisms with AERD and phenotypic FEV1 decline, a total of 43 common single-nucleotide polymorphisms (SNPs) including 12 SNPs of TAP1 and 31 SNPs of TAP2 were genotyped in 93 AERD patients and 96 aspirin-tolerant asthma controls. Interestingly, regression analysis revealed that polymorphisms and haplotypes of TAP2 were associated with FEV1 decline by aspirin provocation (P=0.002-0.04), with about twofold decline rate of FEV1 in most of minor homozygotes compared with major homozygotes. In addition, nominal evidences of association between TAP2 and AERD development were observed (P=0.02-0.04). However, TAP1 polymorphisms showed no relations to both AERD and FEV1 decline after aspirin challenge (P>0.05). Although further functional evaluations and replications are required, our preliminary findings provide supporting information that variants of TAP2 might be predisposing factors for FEV1 decline-related symptoms.Journal of Human Genetics advance online publication, 28 July 2011; doi:10.1038/jhg.2011.75.

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CRRD Object Information
CRRD ID: 5147839
Created: 2011-08-25
Species: All species
Last Modified: 2011-08-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.