关键词: 单核苷酸多态性, 骨质疏松症, 遗传多态性, 骨矿物质密度, 多重单碱基延伸SNP分型技术, 壮族, 女性

Abstract: Objective To investigate the correlation of the adiponectin (APN) gene 5 single nucleotide polymorphisms with bone mineral density(BMD) in Guangxi Zhuang nationality females. Methods A case-control study was carried out on 239 osteopnia patients(LBM group) and 83 matched controls(NBM group). Inclusion criteria,included the age of 47 to 74, Zhuang nationality, living in Baise more than 10 years, no history of taking drugs affecting bone metabolism. Exclusion criteria were secondary osteoporosis diseases affecting bone mineral density,and consanguinity. Genotypes for adiponectin gene 5 loci (rs1063539, rs12495941, rs266729,rs3774261 and rs710445) polymorphism were determined by Multiplex SNaPshot. Broadband ultrasound attenuation (BUA) for the right leg calcaneal was measured by French production of osteospace dry ultrasound bone densitometer. Results Only rs1063539, rs12495941, rs266729 and rs710445 polymorphisms were met with Hardy-Weinberg equilibrium (EM>P /EM>>0.05).Except that the distribution of rs3774261 in the control group did not meet with Hardy-Weinberg equilibrium (EM>P/EM> <0.05), the remaining site genotype frequencies in the normal group and the osteopnia group were met with Hardy-Weinberg equilibrium (EM>P/EM> >0.05). There was no significant difference in the genotype distributions of five locis polymorphism between LBM group and control group (EM>P/EM> >0.05). Among them, only rs1063539 genotypes in the control group and patient group were significantly different (EM>P/EM> = 0.003),and CG genotype in the control group was significantly less than the number of GG genotype （EM>P /EM><0.01）.After adjustments for age,weight, height,movement and body mass index, multivariate Logistic regression analyses revealed that only rs1063539 polymorphism remained significantly associated with low bone mass(LBM) (EM>P/EM> <0.01). The subjects with the combined CG genotype had higher risk of LBM compared with those with the GG genotype(adjusted EM>OR/EM>=3.210，95% EM>CI/EM>：1.631-6.137，EM>P /EM>=0.001). Polymorphism of rs1063539 was independently correlated with LBM at the calcaneal in Baise Zhuang female population. Conclusion APN gene exon 3 of rs1063539 polymorphism and BMD in Baise Zhuang nationality female have some relevance.The presence of the CG genotype may dominantly increase the risk of osteopenia. GG genotype has a protective effect of BMD.The data also suggest that the rs12495941, rs266729, rs3774

Key words: Single nucleotide polymorphism, Osteoporosis, Genetic polymorphism, Bone mineral density, Multiplex SNaPshot, Zhuang nationality, Female