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DC Field | Value | Language |
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dc.contributor.author | Cilia, Chanelle | - |
dc.contributor.author | Friggieri, Donald | - |
dc.contributor.author | Vassallo, Josanne | - |
dc.contributor.author | Xuereb-Anastasi, Angela | - |
dc.contributor.author | Formosa, Melissa Marie | - |
dc.date.accessioned | 2022-04-05T06:37:10Z | - |
dc.date.available | 2022-04-05T06:37:10Z | - |
dc.date.issued | 2022 | - |
dc.identifier.citation | Cilia, C., Friggieri, D., Vassallo, J., Xuereb-Anastasi, A., & Formosa, M. (2022). Whole genome sequencing unravels new genetic determinants of early-onset familial osteoporosis and low BMD in Malta. Genes, 13(2), 204. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar/handle/123456789/92956 | - |
dc.description.abstract | BACKGROUND: Osteoporosis is a skeletal disease with a strong genetic background. The study aimed to identify the genetic determinants of early-onset familial osteoporosis and low bone mineral density (BMD) in a two-generation Maltese family. | en_GB |
dc.description.abstract | METHODS: Fifteen relatives aged between 28–74 years were recruited. Whole genome sequencing was conducted on 12 relatives and shortlisted variants were genotyped in the Malta Osteoporotic Fracture Study (MOFS) for replication. | en_GB |
dc.description.abstract | RESULTS: Sequential variant filtering following a dominant inheritance pattern identified rare missense variants within SELP, TGF-β2 and ADAMTS20, all of which were predicted to be likely pathogenic and participate in osteoimmunology. TGF-β2 c.1136C>T was identified in five individuals from the MOFS in heterozygosity, four of whom had osteopenia/osteoporosis at the lumbar spine and hip, and/or had sustained a low-trauma fracture. Heterozygosity for the ADAMTS20 c.4090A>T was accompanied by lower total hip BMD (p = 0.018) and lower total serum calcium levels in MOFS (p < 0.01), recapitulating the findings from the family. Women carrying at least one copy of the alternative allele (TC/CC) for SELP c.2177T>C exhibited a tendency for lower lumbar spine BMD and/or wrist fracture history relative to women with TT genotype. | en_GB |
dc.description.abstract | CONCLUSIONS: Our findings suggest that the identified variants, alone or in combination, could be causal factors of familial osteoporosis and low BMD, requiring replication in larger collections. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | MDPI | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Osteoporosis -- Genetic aspects | en_GB |
dc.subject | Whole genome sequencing | en_GB |
dc.subject | Bone diseases, metabolic | en_GB |
dc.subject | Bones -- Diseases | en_GB |
dc.title | Whole genome sequencing unravels new genetic determinants of early-onset familial osteoporosis and low BMD in Malta | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.3390/genes13020204 | - |
dc.publication.title | Genes | en_GB |
Appears in Collections: | Scholarly Works - FacHScABS |
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File | Description | Size | Format | |
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Whole genome sequencing unravels new genetic determinants of early-onset familial osteoporosis and low BMD in Malta.pdf | 3.17 MB | Adobe PDF | View/Open |
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