Whole genome sequencing identifies novel genetic variants in early-onset familial osteoporosis

Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/93074

Title:	Whole genome sequencing identifies novel genetic variants in early-onset familial osteoporosis
Authors:	Cilia, Chanelle Friggieri, Donald Vassallo, Josanne Xuereb-Anastasi, Angela Formosa, Melissa Marie
Keywords:	Osteoporosis -- Genetic aspects Whole genome sequencing Bone diseases, metabolic Bones -- Diseases
Issue Date:	2022-02
Publisher:	John Wiley & Sons, Inc.
Citation:	Cilia, C., Friggieri, D., Vassallo, J., Xuereb-Anastasi, A., & Formosa, M. (2022). Whole genome sequencing identifies novel genetic variants in early-onset familial osteoporosis. Journal of Bone and Mineral Research, 37(s1), 106.
Abstract:	OBJECTIVE: Osteoporosis is a metabolic skeletal disease having a strong genetic back-ground. The study aimed to identify genetic determinants underlying early-onset osteo-porosis in a Maltese family. METHODS: A 2-generation pedigree of 15 relatives with ages ranging from 28-74 years was recruited. Osteoporosis was defined using DXA scans of the lumbar spine (LS) and femoral neck (FN). The proband, a 31-year-old male, had a LS and FN Z-score of -3.6 and -2.3 respectively. Whole genome sequencing was conducted on 12 relatives and shortlisted variants were tested using Competitive Allele Specific PCR and PCR with restriction digest in the Malta Osteoporotic Fracture Study (MOFS), a case-con-trol collection of 1045 postmenopausal women. [excerpt]
URI:	https://www.um.edu.mt/library/oar/handle/123456789/93074
Appears in Collections:	Scholarly Works - FacHScABS

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