An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family.
Osteoporos Int
; 33(11): 2445-2448, 2022 Nov.
Article
em En
| MEDLINE
| ID: mdl-35840698
ABSTRACT
We present a family with a rare mutation of the LRP6 gene and for the first time provide evidence for its association with low bone mineral density. INTRODUCTION:
The Wnt pathway plays a critical role in bone homeostasis. Pathogenic variants of the Wnt co-receptor LRP6 have been associated with abnormal skeletal phenotypes or increased risk of cardiovascular events. PATIENT ANDMETHODS:
Here we report an index premenopausal patient and her family carrying a rare missense LRP6 pathogenic variant (rs141212743; 0.0002 frequency among Europeans). This variant has been previously associated with metabolic syndrome and atherosclerosis, in the presence of normal bone mineral density. However, the LRP6 variant was associated with low bone mineral density in this family, without evidence for association with serum lipid levels or cardiovascular events.CONCLUSION:
Thus, this novel association shows that LRP6 pathogenic variants may be involved in some cases of early-onset osteoporosis, but the predominant effect, either skeletal or cardiovascular, may vary depending on the genetic background or other acquired factors.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Ósseas Metabólicas
/
Proteína-6 Relacionada a Receptor de Lipoproteína de Baixa Densidade
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
Idioma:
En
Revista:
Osteoporos Int
Assunto da revista:
METABOLISMO
/
ORTOPEDIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Espanha