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KMID : 0381120110330050557
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Genes and Genomics
2011 Volume.33 No. 5 p.557 ~ p.557
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Genetic analysis between FGD6 and aspirin exacerbated respiratory disease in a Korean population
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Pasaje Charisse Flerida A.
Bae Joon-Seol
Park Byung-Lae
Cheong Hyun-Sub
Jang An-Soo
Uh Soo-Taek
Kim Mi-Kyeong
Kim Jeong-Hyun
Park Tae-Joon
Lee Jin-Sol
Kim Yong-Ha
Park Choon-Sik
Shin Hyoung-Doo
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Abstract
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The human FYVE, RhoGEF and PH domain containing 6 (FGD6) gene regulates mechanisms that are implicated in airway bronchospasm, and therefore, may be a risk factor for aspirin exacerbated respiratory disease (AERD). This study aims to investigate the association between FGD6 variations and AERD in a Korean asthma cohort. A total of 34 single nucleotide polymorphisms (SNPs) were selected for genotyping based on previously reported polymorphisms in the HapMap database. Genotyping was carried out using TaqMan assay and nine major haplotypes from two haplotype blocks were obtained in 163 AERD cases and 429 aspirin-tolerant asthma (ATA) controls. Genotype frequency distributions of FGD6 polymorphisms and haplotypes were analyzed using logistic and regression models. Findings from logistic and regression analyses revealed a lack of association of FGD6 genetic variations with AERD and fall rate of FEV1 (P > 0.05 in co-dominant, dominant and recessive models). This preliminary report provides evidences that variations in the FGD6 gene do not influence the risk of AERD and its relevant phenotype in a Korean population. This report may contribute to the etiology of aspirin hypersensitivity in Korean asthma patients.
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KEYWORD
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Aspirin exacerbated respiratory disease, FGD6 gene, Forced expiratory volume in 1 second, Haplotype, Single nucleotide polymorphism
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