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지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2012.9
- 수록면
- 244 - 253 (10page)
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초록· 키워드
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Bone mineral density (BMD) is used in the clinical diagnosis of osteoporosis and the assessment of fracture risk. Osteoporosis, characterized mainly by decreased BMD, is a highly heritable complex disorder and a major public health concern to hundreds of millions of elderly persons worldwide. However, the specific genetic variants determining risk for low bone density are still largely unknown. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in ESR1 gene with low bone density. By examining genotype data of a total of 1813 women in the Korean Association REsource (KARE) study, we discovered the ESR1 gene polymorphisms are associated with decreased BMD and osteoporosis. The results on the BD-RT (bone density estimated by T-score at distal radius), three SNPs (rs2248586, rs9371557, and rs1569788) within the ESR1 gene were significantly associated with bone density. The results on the BD-TT (bone density estimated by T-score at midshaft tibia), five SNPs (rs9371552, rs2248586, rs712221, rs7772475, and rs3798577) were significantly associated with bone density. The SNP rs2248586 within the ESR1 gene had commonly significance in both BD-RT (β=-0.151, dominant P=0.049) and BD-TT (β=-0.156, dominant P=0.039). In the SNP rs2248586, their β-values in BD-RT and/or BD-TT showed consistent trends with the odds ratios (ORs) of osteoporosis. In summary, we found statistically significant SNPs in ESR1 gene that are associated with both decreased BMD and osteoporosis traits. Therefore, our findings suggest ESR1 gene could be related to pathogenesis of osteoporosis.
목차
INTRODUCTION
MATERIALS AND METHODS
RESULTS
DISCUSSION
REFERENCES
참고문헌 (30)
참고문헌 신청
Albagha OM / 2006 / Genetics and osteoporosis / Rheum Dis Clin North Am 32:659~680
Barrett JG / 2005 / Haploview: Analysis and visualization of LD and haplotype maps / Bioinformatics 21:263~265
Bechereni L / 2000 / Evidence of a linkage disequilibrium between polymorphisms in the human estrogen alpha gene and their relationship to bone mass variation in postmenopausal Italian women / Hum Mol Genet 9:2043~2050
Cho YS / 2009 / A large-scale genomewide association study of Asian populations uncovers genetic factors influencing eight quantitative traits / Nat Genet 41:527~534
Cole RE / 2008 / Improving clinical decisions for women at risk of osteoporosis: dual-femur bone mineral density testing / J Am Osteopath Assoc 108:289~295
Barrett JG / 2005 / Haploview: Analysis and visualization of LD and haplotype maps / Bioinformatics 21:263~265
Bechereni L / 2000 / Evidence of a linkage disequilibrium between polymorphisms in the human estrogen alpha gene and their relationship to bone mass variation in postmenopausal Italian women / Hum Mol Genet 9:2043~2050
Cho YS / 2009 / A large-scale genomewide association study of Asian populations uncovers genetic factors influencing eight quantitative traits / Nat Genet 41:527~534
Cole RE / 2008 / Improving clinical decisions for women at risk of osteoporosis: dual-femur bone mineral density testing / J Am Osteopath Assoc 108:289~295
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UCI(KEPA) : I410-ECN-0101-2014-510-001368856