Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Association of FANCC polymorphisms with FEV1 decline in aspirin exacerbated respiratory disease.

Authors: Kim, JH  Park, BL  Pasaje, CF  Bae, JS  Park, JS  Park, SW  Uh, ST  Choi, JS  Kim, YH  Kim, MK  Choi, IS  Cho, SH  Choi, BW  Park, CS  Shin, HD 
Citation: Kim JH, etal., Mol Biol Rep. 2012 Mar;39(3):2385-94. doi: 10.1007/s11033-011-0989-6. Epub 2011 Jun 14.
Pubmed: (View Article at PubMed) PMID:21670957
DOI: Full-text: DOI:10.1007/s11033-011-0989-6

Aspirin exacerbated respiratory disease (AERD) is a clinical condition characterized by severe decline in forced expiratory volume in one second (FEV1) following the ingestion of non-steroidal anti-inflammatory drugs (NSAIDs), including aspirin. The exacerbated inflammatory response in Fancc-deficient mice has been reported to be associated with hemopoietic responses that are also related to AERD pathogenesis. To investigate associations of FANCC polymorphisms with AERD and related phenotypes, this study genotyped 25 common single nucleotide polymorphisms (SNPs) in a total of 592 Korean asthmatics including 163 AERD and 429 aspirin-tolerant asthma (ATA) subjects. Logistic analysis revealed that genetic polymorphisms of the FANCC gene might not be directly related to AERD development and nasal polyposis (P > 0.05). However, the FEV1 decline by aspirin provocation showed significant associations with FANCC polymorphisms (P = 0.006-0.04) and a haplotype (unique to rs4647416G > A, P = 0.01 under co-dominant, P = 0.006 under recessive model). In silico analysis showed that the "A" allele of rs4647376C > A, which was more prevalent in AERD than in ATA, could act as a potential branch point (BP) site for alternative splicing (BP score = 4.16). Although replications in independent cohorts and further functional evaluations are still needed, our preliminary findings suggest that FANCC polymorphisms might be associated with the obstructive symptoms in allergic diseases.

Annotation

Disease Annotations
Objects Annotated

Additional Information

 
CRRD Object Information
CRRD ID: 11045795
Created: 2016-04-04
Species: All species
Last Modified: 2016-04-04
Status: ACTIVE



NHLBI Logo

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