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Variation in the fibroblast growth factor 23 (
Maria Enlund-Cerullo1,2,3, Elisa Holmlund-Suila1,3, Saara Valkama1,3
1Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Frontiers in Genetics
|June 7, 2023
Summary
Genetic variations in fibroblast growth factor 23 (FGF23) influence phosphate levels and bone strength in infants. These FGF23 gene differences impact bone development and metabolism during early childhood.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Bone Metabolism
Background:
- Fibroblast growth factor 23 (FGF23) plays a crucial role in phosphate and vitamin D regulation.
- The impact of genetic variations in FGF23 on early childhood bone health remains largely unexplored.
Purpose of the Study:
- To investigate the associations between single-nucleotide polymorphisms (SNPs) in the FGF23 gene and parameters of phosphate metabolism and bone strength.
- To examine how FGF23 genetic variations influence these parameters from 12 to 24 months of age in infants.
Main Methods:
- Analysis of data from the Vitamin D Intervention in Infant (VIDI) trial, including 622 infants.
- Genotyping for FGF23 SNPs (rs7955866, rs11063112, rs13312770) and measurement of intact and C-terminal FGF23 (cFGF23), 25-hydroxyvitamin D (25-OHD), phosphate, and bone strength parameters via pQCT at 12 and 24 months.
Main Results:
- FGF23 SNP rs7955866 minor allele homozygotes exhibited the lowest cFGF23 levels.
- SNP rs11063112 minor alleles were linked to a greater age-related decrease in phosphate.
- SNP rs13312770 heterozygotes showed enhanced bone mineral content and strength parameters at 24 months, with minor alleles associated with altered bone accrual patterns.
Conclusions:
- Genetic variations in FGF23 significantly modify circulating cFGF23 levels, phosphate concentrations, and bone strength parameters in early childhood.
- These findings contribute to understanding FGF23 regulation and its role in bone metabolism during infant development.

