Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

Logo MUG-Forschungsportal

Gewählte Publikation:

SHR Neuro Krebs Kardio Lipid Stoffw Microb

Donáth, J; Balla, B; Pálinkás, M; Rásonyi, R; Vastag, G; Alonso, N; Prieto, BL; Vallet, M; Ralston, SH; Poór, G.
Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget's Disease of Bone.
Calcif Tissue Int. 2021; 108(2): 159-164. Doi: 10.1007/s00223-020-00758-4 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Co-Autor*innen der Med Uni Graz
Alonso Lopez Nerea
Altmetrics:

Dimensions Citations:

Plum Analytics:

Scite (citation analytics):

Abstract:
Paget's disease of bone (PDB) is characterized by focal or multifocal increase in bone turnover. One of the most well-established candidate genes for susceptibility to PDB is Sequestosome 1 (SQSTM1). Mutations in SQSTM1 have been documented among Western-European, British and American patients with PDB. However, there is no information on SQSTM1 mutation status in PDB patients from the Central- and Eastern-European regions. In this study, we conducted a mutation screening for SQSTM1 gene variants in 82 PDB patients and 100 control participants in Hungary. Mutations of SQSTM1 were detected in 18 PDB patients (21.95%); associations between genotype and clinical characteristics were also analyzed. Altogether, six different exonic alterations, including two types of UTR variants in the SQSTM1 gene, were observed in our PDB patients. Similarly, to previous genetic studies on Paget's disease, our most commonly detected variant was the c.1175C > T (p.Pro392Leu) in nine cases (four in monostotic and five in polyostotic form). We have surveyed the germline SQSTM1 variant distribution among Hungarian patients with PDB. We also highlighted that the pattern of the analyzed disease-associated pathophysiological parameters could partially discriminate PDB patients with normal or mutant SQSTM1 genotype. However, our findings also underline and strengthen that not solely SQSTM1 stands in the background of the complex PDB etiology.
Find related publications in this database (using NLM MeSH Indexing)
Aged - administration & dosage
Aged, 80 and over - administration & dosage
Exons - administration & dosage
Female - administration & dosage
Humans - administration & dosage
Hungary - administration & dosage
Male - administration & dosage
Middle Aged - administration & dosage
Mutation - administration & dosage
Osteitis Deformans - genetics
Sequestosome-1 Protein - genetics

Find related publications in this database (Keywords)
Paget's disease of bone
SQSTM1genetic variants
Sequencing
Hungarian origin
© Med Uni Graz • Impressum