Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children

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http://hdl.handle.net/10138/312393

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Kämpe , A , Enlund-Cerullo , M , Valkama , S , Holmlund-Suila , E , Rosendahl , J , Hauta-alus , H , Pekkinen , M , Andersson , S & Mäkitie , O 2019 , ' Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children ' , PLoS Genetics , vol. 15 , no. 12 , e1008530 . https://doi.org/10.1371/journal.pgen.1008530

Title: Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children
Author: Kämpe, Anders; Enlund-Cerullo, Maria; Valkama, Saara; Holmlund-Suila, Elisa; Rosendahl, Jenni; Hauta-alus, Helena; Pekkinen, Minna; Andersson, Sture; Mäkitie, Outi
Contributor: University of Helsinki, University of Helsinki
University of Helsinki, Lastentautien yksikkö
University of Helsinki, Clinicum
University of Helsinki, HUS Children and Adolescents
University of Helsinki, HUS Children and Adolescents
University of Helsinki, HUS Children and Adolescents
University of Helsinki, Clinicum
University of Helsinki, HUS Children and Adolescents
Date: 2019-12-16
Language: eng
Belongs to series: PLoS Genetics
ISSN: 1553-7390
URI: http://hdl.handle.net/10138/312393
Abstract: Author summary The effect of vitamin D continues to be highly debated in various health outcomes, including bone health. In this first study of children this young we searched for genes that modify vitamin D metabolism in early childhood using a genome-wide analysis of almost 700,000 genetic variants in a cohort of 761 healthy children participating in a vitamin D intervention study. We show that genetic variation in the genes coding for Vitamin D binding protein (GC) and Vitamin D 25-hydroxylase (CYP2R1) are important determinants for serum 25-hydroxyvitamin D concentration in 2-year-old children. Genetic variants within the GC gene also affect how the child responds to vitamin D supplementation. Moreover, our findings suggest that in 2-year-old children vitamin D concentration, even when within the normal range, influences bone strength as children with genetic constellations associating with lower vitamin D concentration and poorer response to vitamin D supplementation also have weaker bones.
Subject: 3123 Gynaecology and paediatrics
1184 Genetics, developmental biology, physiology
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