Abstract
Osteoporosis is characterized by decreased bone mineral density and increased risk of fracture. Raloxifene is one of the treatments of osteoporosis. However, the responses were variable among patients. Previous studies revealed that the genetic variants are involved in the regulation of treatment outcomes. To date, studies that evaluate the influence of genes across all genome on the raloxifene treatment response are still limited. In this study, a total of 41 postmenopausal osteoporosis patients under regular raloxifene treatment were included. Gene-based analysis using MAGMA was applied to investigate the genetic association with the bone mineral density response to raloxifene at the lumbar spine or femoral neck site. Results from gene-based analysis indicated several genes (GHRHR, ABHD8, and TMPRSS6) related to the responses of raloxifene. Besides, the pathways of iron ion homeostasis, osteoblast differentiation, and platelet morphogenesis were enriched which implies that these pathways might be relatively susceptible to raloxifene treatment outcome. Our study provided a novel insight into the response to raloxifene.
Highlights
Osteoporosis is defined as the weakened architecture of the bone and elevated risk of fracture [1]
41 patients were assessed for femoral neck bone mineral density (BMD) (S Table 1), and the average percentage of BMD change was −2:5 ± 15:8%
Among the 41 patients assessed for femoral neck (FN) BMD, 34 were assessed for lumbar spine BMD
Summary
Osteoporosis is defined as the weakened architecture of the bone and elevated risk of fracture [1]. In Taiwan, the prevalence of osteoporosis is about 6.9% in males over the age of 65 and 21.2% in postmenopausal females [2]. Several risk factors of osteoporosis have been identified, including menopause, dairy intake, life style, and genetic factors [3]. Osteoporosis is a polygenic disease that is determined by multiple genetic effects from several genes. The risk of osteoporosis increases dramatically in the elderly population, that bone fractures are known to increase mortality and lead to an enormous healthcare burden on society [8, 9]. Since the aged population is growing rapidly, osteoporosis has become a crucial clinical issue
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