| Autor: |
Xingnan Li, Victor E. Ortega, Elizabeth J. Ampleford, R. Graham Barr, Stephanie A. Christenson, Christopher B. Cooper, David Couper, Mark T. Dransfield, Mei Lan K. Han, Nadia N. Hansel, Eric A. Hoffman, Richard E. Kanner, Eric C. Kleerup, Fernando J. Martinez, Robert Paine, Prescott G. Woodruff, Gregory A. Hawkins, Eugene R. Bleecker, Deborah A. Meyers, for the SPIROMICS Research Group |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
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| Zdroj: |
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2350 |
| DOI: |
10.1186/s12881-018-0656-z |
| Popis: |
Abstract Background The aim of this study is to identify genetic loci associated with post-bronchodilator FEV1/FVC and FEV1, and develop a multi-gene predictive model for lung function in COPD. Methods Genome-wide association study (GWAS) of post-bronchodilator FEV1/FVC and FEV1 was performed in 1645 non-Hispanic White European descent smokers. Results A functional rare variant in SERPINA1 (rs28929474: Glu342Lys) was significantly associated with post-bronchodilator FEV1/FVC (p = 1.2 × 10− 8) and FEV1 (p = 2.1 × 10− 9). In addition, this variant was associated with COPD (OR = 2.3; p = 7.8 × 10− 4) and severity (OR = 4.1; p = 0.0036). Heterozygous subjects (CT genotype) had significantly lower lung function and higher percentage of COPD and more severe COPD than subjects with the CC genotype. 8.6% of the variance of post-bronchodilator FEV1/FVC can be explained by SNPs in 10 genes with age, sex, and pack-years of cigarette smoking (P |
| Databáze: |
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