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Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women.
- Source :
-
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2010 Sep; Vol. 95 (9), pp. E112-20. Date of Electronic Publication: 2010 Jun 16. - Publication Year :
- 2010
-
Abstract
- Background: In Europeans and populations of European origin, several osteoporosis susceptibility genes, including ZBTB40, RANK, RANKL, OPG, MHC, and ESR1, were recently identified. However, none of these has been fully investigated in Han Chinese populations.<br />Objective and Design: In this relatively large cross-sectional sample of 1012 Han Chinese women, 21 single-nucleotide polymorphisms (SNPs) within 11 candidate genes that were newly identified in Europeans were tested, and their associations with bone mineral densities (BMDs) and osteoporotic fracture were investigated.<br />Results: A total of 21 SNPs were genotyped. Five SNPs in four genes [ZBTB40 (rs7524102, rs6696981), ESR1 (rs9479055), OPG (rs6469804), and RANK (rs3018362)] were found to be associated with lumbar spine BMD. Seven SNPs in five genes [ZBTB40 (rs7524102, rs6696981), OPG (rs6993813, rs6469804), RANK (rs3018362), LRP5 (rs3736228), and SOST (rs1513670)] were found to be associated with total hip BMD. SPTBN1 (rs11898505) and SOST (rs1107748) were associated with osteoporotic fracture. A significant gene-gene interaction for osteoporotic fracture involving rs1107748 in SOST and rs6469804 in OPG gene was identified from generalized multifactor dimensionality reduction analysis.<br />Conclusions: Our study provides an independent replication of the associations between several SNPs in ZBTB40, ESR1, OPG, RANK, LRP5, and SOST with lumbar spine and/or total hip BMDs in a large sample of Han Chinese women. The results of this study further support the significant associations found between osteoporotic fracture and SNPs in SPTBN1 and SOST. Our results suggest that these variants represent osteoporosis susceptibility genes in both Han Chinese and European populations.
- Subjects :
- Adaptor Proteins, Signal Transducing
Aged
Bone Density genetics
Bone Morphogenetic Proteins genetics
DNA Mutational Analysis
Female
Genetic Association Studies
Genetic Markers genetics
Genotype
Humans
Linkage Disequilibrium
Middle Aged
Osteoporosis ethnology
Osteoprotegerin genetics
Polymorphism, Single Nucleotide
White People genetics
Asian People genetics
Genetic Predisposition to Disease genetics
Osteoporosis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1945-7197
- Volume :
- 95
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- The Journal of clinical endocrinology and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 20554715
- Full Text :
- https://doi.org/10.1210/jc.2009-2768