The CAPN2/CAPN8 Locus on Chromosome 1q Is Associated with Variation in Serum Alpha-Carotene Concentrations.

ABSTRACT: BACKGROUND/AIMS:Alpha-carotene is a provitamin A carotenoid present in fruits and vegetables. Higher serum concentrations of ?-carotene have been associated with lower risk of cancer and all-cause mortality. Previous studies have suggested that genetic variants influence serum concentrations of provitamin A carotenoids, but to date no variants have been robustly associated with serum ?-carotene concentrations. The aim of this study was to identify genetic associations with serum ?-carotene concentrations using the genome-wide association study (GWAS) approach. METHODS:A GWAS of serum ?-carotene concentrations was conducted in 433 Old Order Amish adults who had consumed a 6-day controlled diet. Linear regression models adjusting for age, gender, and family structure were utilized to evaluate associations between genetic variants and serum ?-carotene concentrations. RESULTS:Genome-wide significant associations with ?-carotene concentrations were observed for loci on chromosome 1q41 between the genes CAPN2 and CAPN8 (rs12137025, p = 3.55 × 10-8), chromosome 2p21 in PRKCE (rs2594495, p = 1.01 × 10-8), and chromosome 4q34 (rs17830069, p = 2.89 × 10-8). CONCLUSIONS:We identified 3 novel loci associated with serum ?-carotene concentrations among a population that consumed a controlled diet. While replication is necessary, the CAPN2/CAPN8 locus provides compelling evidence for an association with serum ?-carotene concentrations and may suggest a relationship with the development and progression of cancers.

SUBMITTER: D'Adamo CR 

PROVIDER: S-EPMC5535757 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature