%0 Journal Article %A C.R., D'Adamo %A V.J., Dawson %A K.A., Ryan %A L.M., Yerges-Armstrong %A R.D., Semba %A N.I., Steinle %A B.D., Mitchell %A A.R., Shuldiner %A P.F., McArdle %D 2016 %T Supplementary Material for: The CAPN2/CAPN8 Locus on Chromosome 1q Is Associated with Variation in Serum Alpha-Carotene Concentrations %U https://karger.figshare.com/articles/journal_contribution/Supplementary_Material_for_The_CAPN2_CAPN8_Locus_on_Chromosome_1q_Is_Associated_with_Variation_in_Serum_Alpha-Carotene_Concentrations/4488146 %R 10.6084/m9.figshare.4488146.v1 %2 https://karger.figshare.com/ndownloader/files/7234883 %K Alpha-carotene %K Carotenoids %K Genome-wide association study %K CAPN2 %K CAPN8 %K PRKCE %K Old Order Amish %X

Background/Aims: Alpha-carotene is a provitamin A carotenoid present in fruits and vegetables. Higher serum concentrations of α-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 α-carotene concentrations. The aim of this study was to identify genetic associations with serum α-carotene concentrations using the genome-wide association study (GWAS) approach. Methods: A GWAS of serum α-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 α-carotene concentrations. Results: Genome-wide significant associations with α-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 α-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 α-carotene concentrations and may suggest a relationship with the development and progression of cancers.

%I Karger Publishers