Genetic variants associated with lung function: the long life family study.
Respir Res
; 15: 134, 2014 Nov 01.
Article
en En
| MEDLINE
| ID: mdl-25409777
ABSTRACT
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.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Variación Genética
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Polimorfismo de Nucleótido Simple
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Estudio de Asociación del Genoma Completo
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Longevidad
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Pulmón
Tipo de estudio:
Clinical_trials
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Etiology_studies
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Incidence_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Respir Res
Año:
2014
Tipo del documento:
Article
País de afiliación:
Estados Unidos