Molecular test of Paget's disease of bone in families not linked to
Biomarker
Family history
Logistic regression
Paget's disease of bone
Precision medicine
Journal
Bone reports
ISSN: 2352-1872
Titre abrégé: Bone Rep
Pays: United States
ID NLM: 101646176
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
received:
08
02
2023
accepted:
26
02
2023
entrez:
14
3
2023
pubmed:
15
3
2023
medline:
15
3
2023
Statut:
epublish
Résumé
Paget's disease of bone (PDB) is a focal metabolic bone disorder characterized by an increased bone remodeling. Fifteen to 40 % of PDB patients have a familial form with an autosomal dominant inheritance. Disease-causing mutations of the This study aimed at estimating the performance of our previous test of PDB, in families not linked to We genotyped the five SNPs cited above, and measured calcium corrected for albumin and P1NP in 181 relatives, with PDB or not, from 19 PDB families not linked to Logistic regression estimates of our previous molecular test gave rise to a high sensitivity of 78 %, 97 % and 88 % for the genetic, biochemical, and combined test but the specificity was very low, 35 %, 11 % and 21 %, respectively. This poor specificity persisted even when the cut-off point was changed. We then generated in these families, new logistic regression estimates but on the same parameters as mentioned above, giving rise to an AUC of 0.65 (0.55; 0.75) for the genetic test, of 0.84 (0.74; 0.94) for the biochemical test, and 0.89 (0.82; 0.96) for the combination test, the latter having a sensitivity of 96 % and specificity of 57 %. By comparison serum P1NP alone gave rise to an AUC of 0.84 (0.73; 0.94), with a sensitivity of 71 % and a specificity of 79 %. In PDB families not linked to
Identifiants
pubmed: 36915391
doi: 10.1016/j.bonr.2023.101670
pii: S2352-1872(23)00018-9
pmc: PMC10006713
doi:
Types de publication
Journal Article
Langues
eng
Pagination
101670Informations de copyright
© 2023 The Authors.
Déclaration de conflit d'intérêts
Yang You has no competing interest in relation to this article. David Simonyan has no competing interest in relation to this article. Alexandre Bureau has no competing interest in relation to this article. Edith Gagnon has no competing interest in relation to this article. Caroline Albert has no competing interest in relation to this article. Jason R Guertin has no competing interest in relation to this article. Jean-Eric Tarride has received research grants from Assurex/Myriad, Edwards LifeSciences, and Boehringer Ingelheim; and consultant payments from Amgen, Bayer, Evidera, Analytica Laser International, Lilly, Merck, Novartis, Novo Nordisk, Roche and Pfizer outside of this work. Jacques P. Brown has received research support from Mereo BioPharma, Radius Health, and Servier; has served as a consultant for Amgen, Gilead, Paladin, Pfizer, Servier and Ultragenyx; and has served on speakers' bureau for Amgen, all outside the scope of this manuscript. Laetitia Michou has received honoraria for a conference from Roche, Janssen, Abbvie, Amgen; has served as consultant on Advisory Boards of Pfizer, Roche, Amgen, outside the scope of this paper.
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