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Article

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Science translational medicine - 16 Oct 2024

Bisikirska Brygida, Labella Rossella, Cuesta-Dominguez Alvaro, Luo Na, De Angelis Jessica, Mosialou Ioanna, Lin Chyuan-Sheng, Beck David, Lata Sneh, Shyu Peter Timothy, McMahon Donald J, Guo Edward, Hagen Jacob, Chung Wendy K, Shane Elizabeth, Cohen Adi, Kousteni Stavroula

Abstract excerpt

Idiopathic osteoporosis (IOP) is a rare form of early-onset osteoporosis diagnosed in patients with no known metabolic or hormonal cause of bone loss and unknown pathogenesis. Patients with IOP commonly report both childhood fractures and family history of osteoporosis, raising the possibility of genetic etiologies of IOP. Whole-exome sequencing analyses of different IOP cohorts identified multiple variants in...

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PMID: 39413162
DOI: 10.1126/scitranslmed.adj0085

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