Vitamin D-responsive SGPP2 variants associated with lung cell expression and lung function

BMC Medical Genetics
Brian J ReardonPatricia A Cassano

Abstract

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. 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). 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 RSAD...Continue Reading

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Citations

Jan 13, 2016·The Journal of General Physiology·Elke Bocksteins
Mar 4, 2015·Pulmonary Pharmacology & Therapeutics·Conor P KerleyLiam Cormican
Jan 28, 2017·British Journal of Pharmacology·Mercedes Garcia-GilElisabetta Meacci

Methods Mentioned

BETA
chip
genotyping

Related Concepts

SGPP2 protein, human
Senility
African American
Epithelial Cells
Forced Expiratory Volume Function
Lung
Cell Surface Proteins
Phosphoric Monoester Hydrolases
Respiratory Function Tests
Vitamin D

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