Influences of multiple gene interactions on bone mineral density and osteoporotic fractures in postmenopausal women
10.3760/cma.j.issn.1000-6699.2012.08.010
- VernacularTitle:对绝经后妇女骨密度和骨质疏松性骨折的多基因交互作用研究
- Author:
Hanxiao SUN
;
Lin ZHAO
;
Minjia ZHANG
;
Yanhua DENG
;
Bin CUI
;
Shuangxia ZHAO
;
Chunming PAN
;
Bei TAO
;
Lihao SUN
;
Hongyan ZHAO
;
Huaidong SONG
;
Weiqing WANG
;
Guang NING
;
Jianmin LIU
- Publication Type:Journal Article
- Keywords:
Polymorphism,single nucleotide;
Body mineral density;
Osteoporosis;
Osteoporotic fractures
- From:
Chinese Journal of Endocrinology and Metabolism
2012;28(8):641-646
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the effects of the genetic polymorphisms in osteoporosis-related genes and the gene-gene interaction on bone mineral density (BMD) and osteoporotic fractures.Methods Thirty-nine single nucleotide polymorphism (SNP) sites in 23 genes that related to bone mineral density ( BMD ) and osteoporotic fractures were scanned in 683 Shanghai Han postmenopausal women.TaqMan SNP Genotyping Assay or Sequenom Mass ARRAY System were applied for genotyping analysis.The relation of these SNP sites with BMD and osteoporotic fractures were analyzed.Results Altogether,12 SNPs in 9 candidate genes ( rs7524102 and rs6696981 in ZBTB40 gene,rs9479055 in ESR1 gene,rs6993813,rs6469804,and rs11995824 in OPG gene,rs3736228 in LRP5 gene,rs1107748 in SOST gene,rs87938 in CTNNB1 gene,rs1366594 in MEF2C gene,rs7117858 in SOX6 gene,and rs10048146 in FOXL1 gene) were associated with BMD at lumbar spine(L1-L4) or total hip.In addition,rs11898505 in SPTBN1 gene was related to osteoporotic fractures ( OR 0.522,95% CI 0.326-0.838,P =0.007 ).Gene-gene interaction involving rs1038304 in ESR1 gene,rs1366594 in MEF2C gene,and rs10048146 in FOXL1 gene was associated with osteoporotic fractures ( P =0.010 7 ).Conclusions ( 1 ) SNPs in gene ZBTB40,ESR1,OPG,LRP5,SOST,CTNNB1,MEF2C,SOX6,FOXL1,and SPTBN1 are associated with BMD of lumbar spine or total hip,as well as osteoporotic fractures.(2) Gene-gene interaction involving rs1038304,rs1366594,and rs10048146may contribute to the risk of osteoporotic fractures.