R. Li

Erasmus MC

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Ling Oei

Erasmus MC

Carolina Medina‐Gómez

Erasmus MC

Cindy G. Boer

Erasmus MC

Christiaan de Bruin

Leiden University Medical Center

Elizabeth M. Winter

Leiden University Medical Center

Alice Costantini

Karolinska Institutet

Natasha M. Appelman‐Dijkstra

Leiden University Medical Center

Samuel Ghatan

Erasmus MC

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Erasmus MC

Erasmus University Rotterdam

Leiden University Medical Center

Leiden University

Codarts Rotterdam

Netherlands Consortium for Healthy Ageing

Loyola University Medical Center

Chesterfield Royal Hospital NHS Foundation Trust

University of Twente

Ekaterinburg Research Institute of Viral Infections

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The Polygenic and Monogenic Basis of Paediatric Fractures

Current Osteoporosis Reports (2021)

Samuel Ghatan Alice Costantini R. Li Christiaan de Bruin Natasha M. Appelman‐Dijkstra

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.

Multifactorial Inheritance

Genome-wide Association Study

Polygenic risk score

10.1007/s11914-021-00680-0

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The Gut Microbiome: a New Frontier in Musculoskeletal Research

Current Osteoporosis Reports (2021)

R. Li Cindy G. Boer Ling Oei Carolina Medina‐Gómez

The human gut harbors a complex community of microbes that influence many processes regulating musculoskeletal development and homeostasis. This review gives an update on the current knowledge surrounding the impact of the gut microbiota on musculoskeletal health, with an emphasis on research conducted over the last three years.

Gut microbiome

Dysbiosis

10.1007/s11914-021-00675-x

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