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Title: Vitamin D-responsive SGPP2 variants associated with lung cell expression and lung function
Authors: Reardon, Brian J;Hansen, Joyanna G;Crystal, Ronald G;Houston, Denise K;Kritchevsky, Stephen B;Harris, Tamara;Lohman, Kurt;Liu, Yongmei;O’Connor, George T;Wilk, Jemma B;Mezey, Jason;Gao, Chuan;Cassano, Patricia A
subject: Vitamin D;Airflow obstruction;FEV
Year: 2013
Publisher: BioMed Central
Description: Background: Vitamin D is associated with lung health in epidemiologic studies, but mechanisms mediating observed associations are poorly understood. This study explores mechanisms for an effect of vitamin D in lung through an in vivo gene expression study, an expression quantitative trait loci (eQTL) analysis in lung tissue, and a population-based cohort study of sequence variants. Methods: Microarray analysis investigated the association of gene expression in small airway epithelial cells with serum 25(OH)D in adult non-smokers. Sequence variants in candidate genes identified by the microarray were investigated in a lung tissue eQTL database, and also in relation to cross-sectional pulmonary function in the Health, Aging, and Body Composition (Health ABC) study, stratified by race, with replication in the Framingham Heart Study (FHS). Results: 13 candidate genes had significant differences in expression by serum 25(OH)D (nominal p < 0.05), and a genome-wide significant eQTL association was detected for SGPP2. In Health ABC, SGPP2 SNPs were associated with FEV1 in both European- and African-Americans, and the gene-level association was replicated in European-American FHS participants. SNPs in 5 additional candidate genes (DAPK1, FSTL1, KAL1, KCNS3, and RSAD2) were associated with FEV1 in Health ABC participants. Conclusions: SGPP2, a sphingosine-1-phosphate phosphatase, is a novel vitamin D-responsive gene associated with lung function. The identified associations will need to be followed up in further studies.
Standard no: Reardon, B. J., J. G. Hansen, R. G. Crystal, D. K. Houston, S. B. Kritchevsky, T. Harris, K. Lohman, et al. 2013. “Vitamin D-responsive SGPP2 variants associated with lung cell expression and lung function.” BMC Medical Genetics 14 (1): 122. doi:10.1186/1471-2350-14-122.
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