The Polygenic and Monogenic Basis of Paediatric Fractures

S. Ghatan, A. Costantini, R. Li, C. De Bruin, N. M. Appelman-Dijkstra, E. M. Winter, L. Oei, Carolina Medina-Gomez*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

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Abstract

Purpose of Review: Fractures are frequently encountered in paediatric practice. Although recurrent fractures in children usually unveil a monogenic syndrome, paediatric fracture risk could be shaped by the individual genetic background influencing the acquisition of bone mineral density, and therefore, the skeletal fragility as shown in adults. Here, we examine paediatric fractures from the perspective of monogenic and complex trait genetics. Recent Findings: Large-scale genome-wide studies in children have identified ~44 genetic loci associated with fracture or bone traits whereas ~35 monogenic diseases characterized by paediatric fractures have been described. Summary: Genetic variation can predispose to paediatric fractures through monogenic risk variants with a large effect and polygenic risk involving many variants of small effects. Studying genetic factors influencing peak bone attainment might help in identifying individuals at higher risk of developing early-onset osteoporosis and discovering drug targets to be used as bone restorative pharmacotherapies to prevent, or even reverse, bone loss later in life.

Original languageEnglish
Pages (from-to)481-493
Number of pages13
JournalCurrent Osteoporosis Reports
Volume19
Issue number5
Early online date4 May 2021
DOIs
Publication statusPublished - Oct 2021

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