title: Association analyses of FGFR2 gene polymorphisms with femoral neck bone mineral density in Chinese Han population.
abstract: Femoral neck (FN) bone mineral density (BMD) is the most important risk phenotype for osteoporosis and has been used as a reference standard for describing osteoporosis. Identification of genetic variations associated with FN BMD may provide potential targets for therapeutic studies. Given the important biological role of FGFR2 gene involved in bone, we tested the associations between FGFR2 polymorphisms and FN BMD in 1,300 Chinese Han subjects. Of the 28 total SNPs, 2 SNPs, namely rs11200014 and rs1078806, were significantly associated with FN BMD under dominant model (P = 0.0014 and 0.0012, respectively) after conservative Bonferroni correction. The two SNPs were in complete linkage disequilibrium. In addition, haplotype-based association tests identified two haplotypes significantly associated with FN BMD, including one haplotype in block 4 where the two SNPs located. However, different from previous studies in white older men, we did not detect any significant association in sex-stratified analyses. In summary, our findings suggest that the FGFR2 gene may play an important role in variation in FN BMD in Chinese Han population, independent of gender effects. Further studies performed in multiple and large samples are needed to elucidate the underlying molecular mechanism and pathophysiology of osteoporosis.
authors.affiliation: Key Laboratory of Biomedical Information Engineering of Ministry of Education, and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, 710049, People's Republic of China.
authors.forename: Shan-Shan
authors.initials: SS
authors.lastname: Dong
authors.forename: Tie-Lin
authors.initials: TL
authors.lastname: Yang
authors.forename: Han
authors.initials: H
authors.lastname: Yan
authors.forename: Zheng-Qin
authors.initials: ZQ
authors.lastname: Rong
authors.forename: Jia-Bin
authors.initials: JB
authors.lastname: Chen
authors.forename: Ruo-Han
authors.initials: RH
authors.lastname: Hao
authors.forename: Xiao-Feng
authors.initials: XF
authors.lastname: Chen
authors.forename: Yan
authors.initials: Y
authors.lastname: Guo
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D015519:Bone Density; D016022:Case-Control Studies; D002681:China; D005260:Female; D005272:Femur Neck / Q000473:pathology*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010024:Osteoporosis / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2