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https://www.um.edu.mt/library/oar/handle/123456789/93272| Title: | Variants within the ZNF384 and COL1A1 genes influence bone mineral density and fracture risk in Maltese postmenopausal women |
| Authors: | Formosa, Melissa Marie Schembri, Marichela Lanzon, Justine Xuereb-Anastasi, Angela |
| Keywords: | Osteoporosis in women -- Malta Bone density Fractures -- Risk factors Osteoporosis -- Genetic aspects Menopause -- Complications |
| Issue Date: | 2019 |
| Publisher: | Springer Nature Switzerland AG |
| Citation: | Formosa, M. M., Schembri, M., Lanzon, J., & Xuereb-Anastasi, A. (2019). Variants within the ZNF384 and COL1A1 genes influence bone mineral density and fracture risk in Maltese postmenopausal women. Calcified Tissue International, 104, S35. |
| Abstract: | OBJECTIVES: Osteoporosis is a skeletal disease having a strong genetic
component. We recently identified the splice variant ZNF384
rs146089604 as a possible causal variant underlying primary osteo-
porosis in an extended Maltese family. ZNF384 transactivates
COL1A1, which can be altered in the presence of promoter and
intronic COL1A1 variants. The study aimed to evaluate the effect of
the ZNF384 rs146089604, COL1A1 rs1107946 (G - 1997T) and
COL1A1 rs1800012 (G ? 1245T) variants, alone or in combination,
on BMD and fracture risk in Malta. METHODS: Genotyping was performed in the Malta Osteoporotic Fracture Study comprising 1045 Maltese postmenopausal women aged 41–79 years. Testing was performed by Kompetitive Allele Specific PCR (ZNF384 rs146089604), TaqMan allelic discrimination (COL1A1 rs1107946) and PCR followed by restriction enzyme digest (COL1A1 rs1800012). Odds ratios (OR) with 95% confidence intervals (CI) were computed using logistic regression analysis adjusted for confounders. [excerpt] |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/93272 |
| Appears in Collections: | Scholarly Works - FacHScABS |
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|---|---|---|---|---|
| ECTS2019_ariants within the ZNF384 and COL1A1 genes influence bone mineral density and fracture risk in Maltese postmenopausal women.pdf Restricted Access | 1.23 MB | Adobe PDF | View/Open Request a copy |
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