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Title: Exome sequencing and functional follow-up identifies KIF26B as a novel genetic determinant of familial osteoporosis
Authors: Formosa, Melissa Marie
Formosa, Robert
Linde, Herma C. Van Der
Metz, Juriaan R.
Flik, Gert
Khajuria, Deepak Kumar
Karasik, David
Carola Zillikens, M.
Willemsen, Rob
Uitterlinden, André G.
Ham, Tjakko J. van
Rivadeneira, Fernando
Verkerk, Annemieke J. M. H.
Xuereb-Anastasi, Angela
Keywords: Osteoporosis -- Genetic aspects
Osteoporosis -- Malta
Bone density
Issue Date: 2018-11
Publisher: John Wiley & Sons, Inc.
Citation: Formosa, M. M., Formosa, R., Van Der Linde, H. C., Metz, J. R., Flik, G., Khajuria, D. K., ... Xuereb-Anastasi, A. (2018). Exome sequencing and functional follow-up identifies KIF26B as a novel genetic determinant of familial osteoporosis. Journal of Bone and Mineral Research, 33(s1), 403.
Abstract: OBJECTIVE: Osteoporosis is a skeletal disease under strong genetic control. The aim of the study was to identify the genetic determinants of primary osteoporosis in a Maltese family and investigate the function of identified novel genes and variants.
METHODS: A 2-generation family of 12 recruited relatives (including 7 siblings) with ages ranging from 34-77 years was tested. Osteoporosis was defined using DXA scans of the lumbar spine (LS) and hip. The proband had a LS T-score of -4.0. Exome sequencing was performed on 6 well-phenotyped relatives and replication of shortlisted variants was sought in a case-control collection of Maltese postmenopausal women (n=1012). In vitro protein expression was analyzed by transfecting in COS-7 cells and western blotting, whereas consequences of gene knockdown was studied in a zebrafish model. BMD was assessed with micro-computed tomography; mineralization rate with Alizarin red staining of the whole fish skeleton; and resorption activity with TRAcP staining of regenerating scales.
Appears in Collections:Scholarly Works - FacHScABS

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