Inventors:
Steffi Oesterreich - Missouri City TX, US
Alexandra Richter - Houston TX, US
Adrian Lee - Missouri City TX, US
C. Kent Osborne - Houston TX, US
Sean E. Mcguire - Houston TX, US
Ryan Hartmaier - Houston TX, US
Assignee:
BAYLOR COLLEGE OF MEDICINE - Houston TX
International Classification:
C12Q 1/68, C12Q 1/48
Abstract:
Osteoporosis is a common skeletal disease characterized by loss of bone mineral density (BMD) and increased risk of fracture. Osteoporosis most commonly occurs in postmenopausal women due to estrogen deficiency. We identified 3 genetic variants in steroid receptor coactivator 1 (SRC-1) that are significantly associated with a decrease in BMD in women. We characterized a functional variant in exon 18 of SRC-1 that is associated with increased loss of bone mineral density in women who received tamoxifen for treatment or prevention of breast cancer. In vitro experiments show that this variant decreases estrogen receptor alpha response (ER-alpha) to hormone, suggesting an attenuated response to endogenous and exogenous hormones in the bone of these women, and therefore a need for additional bone protective measures.