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dc.contributor.authorD'Adamo, C.R.
dc.contributor.authorDawson, V.J.
dc.contributor.authorRyan, K.A.
dc.date.accessioned2019-07-15T16:12:15Z
dc.date.available2019-07-15T16:12:15Z
dc.date.issued2017
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85008331160&doi=10.1159%2f000452890&partnerID=40&md5=c04e3e634f1338d1399bf08f41436e69
dc.identifier.urihttp://hdl.handle.net/10713/9966
dc.description.abstractBackground/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. Copyright 2016 S. Karger AG, Basel.en_US
dc.description.sponsorshipThis work was supported by the National Institutes of Health (U01 HL072515, P30 DK072488, R01 AG27012, and T35 DK095737).en_US
dc.description.urihttps://www.doi.org/10.1159/000452890en_US
dc.language.isoen_USen_US
dc.publisherS. Karger AGen_US
dc.relation.ispartofJournal of Nutrigenetics and Nutrigenomics
dc.subjectAlpha-caroteneen_US
dc.subjectCAPN2en_US
dc.subjectCAPN8en_US
dc.subjectCarotenoidsen_US
dc.subjectGenome-wide association studyen_US
dc.subjectOld Order Amishen_US
dc.subjectPRKCEen_US
dc.titleThe CAPN2/CAPN8 Locus on Chromosome 1q Is Associated with Variation in Serum Alpha-Carotene Concentrationsen_US
dc.typeArticleen_US
dc.identifier.doi10.1159/000452890
dc.identifier.pmid28002826


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