Prevalence of Paget's disease of bone in Spain

Guañabens, Núria; Garrido, Jesús; Gobbo, Milena; Piga, Antonio Morales; Pino, Javier del; Torrijos, A.; Descalzo, Miguel Ángel; Garcı́a, Francisco; Cros, José Ramón Rodríguez; Carbonell, Jordi; Pérez, Manuel Rodríguez; Tornero, Jesús; Carmona, Loreto

doi:10.1016/j.bone.2008.08.108

Cited by 37 publications

(15 citation statements)

References 24 publications

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“…PDB is seen in the elderly above 55 years in the Western population with a prevalence between 1 and 5% (Armas et al 2002;Barker 1981;Choma et al 2004;Cooper et al 1999;Cundy et al 2004;Cundy et al 1997;Doyle et al 2002;Gennari et al 2006;Guanabens et al 2008;Poor et al 2006;Tiegs et al 2000;van Staa et al 2002). However, there is increasing evidence that the prevalence of the disease is declining (Cundy 2006).…”

Section: Introductionmentioning

confidence: 99%

The majority of the genetic risk for Paget’s disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes

et al. 2010

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Paget's disease of bone (PDB) is one of the most frequent metabolic bone disorders (1-5%), next to osteoporosis, affecting individuals above age 55. Sequestosome1 mutations explain a part of the PDB patients, but still the disease pathogenesis in the remaining PDB patients is largely unknown. Therefore, association studies investigating the relationship between genetic polymorphisms and sporadic PDB have been performed to find the genetic risk variants. Previously such studies indicated a role of the OPG and RANK gene. The latter was recently confirmed in a genome-wide association study (GWAS) which also indicated the involvement of chromosomal regions harbouring the CSF1 and OPTN gene. In this study, we sought to replicate these findings in a Belgian and a Dutch population. Similar significant results were obtained for the single nucleotide polymorphisms and the haplotypes. The most significant results are found in the CSF1 gene region, followed by the OPTN and TNFRSF11A gene region (p values ranging from 1.3 × 10(-4) to 3.8 × 10(-8), OR = 1.523-1.858). We next obtained significant association with a polymorphism from the chromosomal region around the TM7SF4 gene (p = 2.7 × 10(-3), OR = 1.427), encoding DC-STAMP which did not reach genome-wide significance in the GWAS, but based on its function in osteoclasts it can be considered a strong candidate gene. After meta-analysis with the GWAS data, p values ranged between 2.6 × 10(-4) and 8.8 × 10(-32). The calculated cumulative population attributable risk of these four loci turned out to be about 67% in our two populations, indicating that most of the genetic risk for PDB is coming from genetic variants close to these four genes.

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Section: Introductionmentioning

confidence: 99%

The majority of the genetic risk for Paget’s disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes

et al. 2010

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“…Así en Inglaterra, Norteamérica y Australia la prevalencia de la EP en adultos de más de 55 años está entre el 1% y el 4%, mientras que es muy rara en Japón, Oriente Medio, África y Sudamérica. En España un estudio multicéntrico de ámbito nacional estableció una prevalencia estimada entre el 1,1 y 1,6% en las personas mayores de 55 años (5). Además en varios países se han encontrado marcadas variaciones regionales con áreas o focos de alta prevalencia (6,7).…”

Section: La Enfermedad De Pagetunclassified

Enfermedad de Paget. Actualización en el tratamiento médico

Bachiller‐Corral

2015

acta reuma

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ResumenLa enfermedad de Paget del hueso (EP) se caracteriza por un aumento del metabolismo óseo localizado en uno o varios focos del esqueleto. El mecanismo fisiopatológico inicial es el aumento de la resorción ósea osteoclástica, y los bifosfonatos son el tratamiento de elección. Las indicaciones aceptadas para el tratamiento de la EP incluyen el dolor óseo y las manifestaciones del sistema nervioso. También se recomienda el tratamiento antes de una cirugía ósea para prevenir el sangrado excesivo o la hipercalcemia. Los pacientes con una alta actividad metabólica (nivel de fosfatasa alcalina más de dos veces el límite superior normal) también deben ser tratados. Una indicación controvertida es el tratamiento en pacientes asintomáticos para prevenir las complicaciones evolutivas.Los nuevos bifosfonatos, como el ácido zoledrónico, con una gran potencia y afinidad de unión a la hidroxiapatita, son muy útiles para el control de la actividad de la enfermedad a corto y largo plazo. El ácido zoledrónico está indicado para EP en Europa y América en una sola dosis de 5 mg, administrado por vía intravenosa. En 2005, un ensayo controlado con risedronato, demostró una respuesta terapéu-tica en el 96% de los pacientes tratados con ácido zoledrónico, que es significativamente mayor que los resultados obtuvieron por otros bisfosfonatos. En el estudio de extensión, se demostró que la duración de la respuesta era de al menos 6 años y medio tras la infusión del fármaco.El ácido zoledrónico ha cambiado el manejo de la enfermedad de Paget. Queda pendiente demostrar si el control metabólico eficaz y prolongado que se consigue con los nuevos fármacos, reducirá el riesgo de complicaciones tales como la deformidad, las fracturas, la sordera y la artropatía secundaria.

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“…The world highest prevalence has been reported in the Lancashire, a North West England region, but distinct regional variations also exist in Italy and Spain [42][43][44][45]. In extra-European countries, such as Australia, New Zealand, North America, Argentina and Brazil, the epidemiology of PDB closely parallels patterns of migration from Western Europe, exhibiting a relatively high prevalence in descendants of the large number of migrants coming from: (i) the United Kingdom for the English-speaking countries [Australia, New Zealand and North America (New England)] [46,47]; (ii) France, with a higher prevalence in the French-Canadian population from Quebec than other Canadian regions; (iii) Italy, with a higher prevalence within the Italian descent population in Argentina; and (iv) from the Jewish population originally settled in Recife, Brazil [48,49].…”

Section: Genetic Factorsmentioning

confidence: 99%

Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA‐based tests in the clinical practice. Advantages and disadvantages of its application

Falchetti

Marini

Masi

et al. 2010

Eur J Clin Investigation

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Background A large amount of genetic studies have clearly demonstrated the existence of a genetic susceptibility to Paget's disease of bone (PDB). Although the disease is genetically heterogeneous, the SQSTM1 ⁄ p62 gene, encoding a protein with a pathophysiological role in both osteoclast differentiation and activity, has been found worldwide to harbour germline mutations in most of the PDB patients from geographically distant populations originating from different areas of Europe, both in sporadic and familial cases.

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Prevalence of Paget's disease of bone in Spain

Cited by 37 publications

References 24 publications

The majority of the genetic risk for Paget’s disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes

The majority of the genetic risk for Paget’s disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes

Enfermedad de Paget. Actualización en el tratamiento médico

Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA‐based tests in the clinical practice. Advantages and disadvantages of its application

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