Authors: B M H Lai C L Cheung K D K Luk A W C Kung
Publish Date: 2007/09/26
Volume: 19, Issue: 4, Pages: 571-579
Abstract
The association between a newly identified CA repeat polymorphism of the estrogen receptor alpha gene ESR1 with osteoporosis was investigated Postmenopausal women with 18 CA repeats had low BMD increased rate of bone loss and increased fracture riskStudies have shown that intronic dinucleotide repeat polymorphisms in some genes are associated with disease risk by modulating mRNA splicing efficiency D6S440 is a newly identified intronic CA repeat polymorphism located downstream of the 5’splicing site of exon 5 of ESR1Post but not premenopausal women with less CA repeats had lower spine and hip BMD The number of CA repeats was linearly related to hip BMD in postmenopausal women β = 0008 p = 0004 Postmenopausal women with CA repeats 18 had higher risks of having osteoporosis BMD Tscore−25 at the spine OR 246 95 CI 130–465 at the hip OR 379164–874 and low trauma fractures OR 231129–414 than those with ≥18 repeats Perimenopausal women with 18 CA repeats had significantly greater bone loss in 18 months at the hip than those with ≥18 repeats −196 vs −161 p = 0029We thank the staff of the Osteoporosis Centre at Queen Mary Hospital and KS Lau for technical support This project is supported by CRCG Grant Bone Health Fund The Matching Grant and The Osteoporosis and Endocrine Research Fund of the University of Hong Kong
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