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Genetic variants associated with lung function: The long life family study

Thyagarajan, B and Wojczynski, M and Minster, RL and Sanders, J and Barral, S and Christiansen, L and Barr, RG and Newman, A (2014) Genetic variants associated with lung function: The long life family study. Respiratory Research, 15 (1). ISSN 1465-9921

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Background: Reduced forced expiratory volume in 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) are strong predictors of mortality and lung function is higher among individuals with exceptional longevity. However, genetic factors associated with lung function in individuals with exceptional longevity have not been identified. Method: We conducted a genome wide association study (GWAS) to identify novel genetic variants associated with lung function in the Long Life Family Study (LLFS) (n = 3,899). Replication was performed using data from the CHARGE/SpiroMeta consortia. The association between SNPs and FEV1 and FEV1/FVC was analyzed using a linear mixed effects model adjusted for age, age2, sex, height, field center, ancestry principal components and kinship structure to adjust for family relationships separately for ever smokers and never smokers. In the linkage analysis, we used the residuals of the FEV1 and FEV1/FVC, adjusted for age, sex, height, ancestry principal components (PCs), smoking status, pack-years, and field center. Results: We identified nine SNPs in strong linkage disequilibrium in the CYP2U1 gene to be associated with FEV1 and a novel SNP (rs889574) associated with FEV1/FVC, none of which were replicated in the CHARGE/SpiroMeta consortia. Using linkage analysis, we identified a novel linkage peak in chromosome 2 at 219 cM for FEV1/FVC (LOD: 3.29) and confirmed a previously reported linkage peak in chromosome 6 at 28 cM (LOD: 3.33) for FEV1. Conclusion: Future studies need to identify the rare genetic variants underlying the linkage peak in chromosome 6 for FEV1.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Thyagarajan, B
Wojczynski, M
Minster, RLrminster@pitt.eduRMINSTER
Sanders, J
Barral, S
Christiansen, L
Barr, RG
Newman, AANEWMAN@pitt.eduANEWMAN
Date: 1 November 2014
Date Type: Publication
Journal or Publication Title: Respiratory Research
Volume: 15
Number: 1
DOI or Unique Handle: 10.1186/s12931-014-0134-x
Schools and Programs: School of Public Health > Epidemiology
School of Public Health > Human Genetics
Refereed: Yes
ISSN: 1465-9921
Date Deposited: 21 Dec 2016 20:46
Last Modified: 22 Jun 2021 12:55


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