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|Variants in the RANK gene are associated with bone mineral density and fracture risk in Maltese postmenopausal women
|Formosa, Melissa Marie
|Fractures -- Risk factors
Osteoporosis -- Genetic aspects
Osteoporosis in women -- Malta
|Springer Nature Limited
|Formosa, M. M., & Xuereb-Anastasi, A. (2015). Variants in the RANK gene are associated with bone mineral density and fracture risk in Maltese postmenopausal women. European Journal of Human Genetics, 23(s1), 95.
|INTRODUCTION: Osteoporosis is a progressive multifactorial skeletal disease
characterised by low bone mass thereby increasing fracture susceptibility.
The Receptor activator of nuclear factor Kappa B (RANK) is involved in the
regulation of osteoclastogenesis via the RANK-RANK ligand-Osteoprotegerin pathway. The influence of two polymorphisms rs3018362 (A>G) and
rs884205 (G>T) in the 3‘ untranslated region of this gene were analysed in
relation to bone mineral density (BMD) and different low trauma fractures
in Maltese postmenopausal women.
MATERIALS AND METHODS: 1045 women were recruited and subdivided in three BMD control groups if without a fracture history: normal, osteopenic or osteoporotic. Cases were women who suffered any type of low trauma fracture. Genotyping of the rs3018362 polymorphism was performed by polymerase chain reaction and restriction enzyme digest, whereas real-time PCR was used for the rs884205 variant. Odds ratios were computed using logistic regression analysis adjusted for age and clinical risk factors.
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