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

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?

SUBMITTER: Reardon BJ

PROVIDER: S-EPMC3907038 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature

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

Reardon Brian J BJ Hansen Joyanna G JG Crystal Ronald G RG Houston Denise K DK Kritchevsky Stephen B SB Harris Tamara T Lohman Kurt K Liu Yongmei Y O'Connor George T GT Wilk Jemma B JB Mezey Jason J Gao Chuan C Cassano Patricia A PA

BMC medical genetics 20131125

<h4>Background</h4>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.<h4>Methods</h4>Microarray analysis investigated the association of gene expression in small airway epithelia ...[more]

PMID: 24274704

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Project description:BackgroundRecent meta-analyses of genome-wide association studies have identified single nucleotide polymorphisms (SNPs) within/near 54 genes associated with lung function measures. Current understanding of the contribution of these genes to human lung development is limited. We set out to further define i) the expression profile of these genes during human lung development using a unique set of resources to examine both mRNA and protein expression and ii) the link between key polymorphisms and genes using expression quantitative trait loci (eQTL) approaches.MethodsThe mRNA expression profile of lung function associated genes across pseudoglandular and canalicular stages of lung development were determined using expression array data of 38 human fetal lungs. eQTLs were investigated for selected genes using blood cell and lung tissue data. Immunohistochemistry of the top 5 candidates was performed in a panel of 24 fetal lung samples.ResultsTwenty-nine lung function associated genes were differentially expressed during lung development at the mRNA level. The greatest magnitude of effect was observed for 5 genes; TMEM163, FAM13A and HHIP which had increasing expression and CDC123 and PTCH1 with decreased expression across developmental stages. Focussed eQTL analyses investigating SNPs in these five loci identified several cis-eQTL's. Protein expression of TMEM163 increased and CDC123 decreased with fetal lung age in agreement with mRNA data. Protein expression in FAM13A, HHIP and PTCH1 remained relatively constant throughout lung development.ConclusionsWe have identified that > 50 % of lung function associated genes show evidence of differential expression during lung development and we show that in particular TMEM163 and CDC123 are differentially expressed at both the mRNA and protein levels. Our data provides a systematic evaluation of lung function associated genes in this context and offers some insight into the potential role of several of these genes in contributing to human lung development.

Dataset Information

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

Publications

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

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