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目的探讨脂联素(APN)基因5个单核苷酸多态性(SNPs)与广西百色地区壮族妇女骨矿物质密度(BMD)的关系。方法选取壮族女性239例跟骨骨量减少患者(LBM)和83例正常骨量组(NBM)进行病例对照研究,采用多重单碱基延伸SNP分型技术对壮族女性脂联素基因的5个位点(rs1063539、rs12495941、rs266729、rs3774261及rs710445)进行了基因分型,采用法国生产的Osteospace干式超声骨密度仪测量右侧跟骨超声振幅衰减(BUA)。结果仅rs1063539、rs12495941、rs266729及rs710445多态性分布符合Hardy-Weinberg遗传平衡定律(P>0.05)。除rs3774261在骨量正常组的分布不符合Hardy-Weinberg平衡(P<0.05)之外,其余位点在正常组和骨量减少组基因型分布均符合Hardy-Weinberg平衡(P>0.05)。其中,只有rs1063539基因型在NOR和LBM组差异存在显著性(P=0.003),CG基因型者在LBM组人数明显多于GG型(P<0.01)。调整年龄、体重、身高及体质指数后,以5个多态性位点作为自变量的多元Logistic回归显示,仅rs1063539多态性与跟骨BUA相关性有统计学意义(adjusted OR=3.210,95%CI:1.631～6.137,P=0.001),并独立于骨量减少的传统危险因素。结论APN基因第3外显子rs1063539多态性与壮族女性BMD有一定关联,其中GG型对BMD具有一定的保护作用,CG型是BMD降低的危险因素。rs12495941、rs266729、rs3774261及rs710445多态性与壮族女性BMD无相关性。
Objective To investigate the relationship between 5 single nucleotide polymorphisms (SNPs) of adiponectin (APN) gene and bone mineral density (BMD) in Zhuang women in Baise, Guangxi. Methods 239 cases of osteoporotic calcaneus (LBM) and 83 cases of normal bone mass (NBM) from Zhuang nationality women were selected as case-control study. Multiplex single base extension SNP typing technique was used to detect the expression of adiponectin gene in Zhuang women (Rs1063539, rs12495941, rs266729, rs3774261, and rs710445) were genotyped and the right calcaneus amplitude attenuation (BUA) was measured using the French Osteospace dry-type ultrasound bone densitometer. Results Only rs1063539, rs12495941, rs266729 and rs710445 polymorphisms were in accordance with Hardy-Weinberg’s law of genetic balance (P> 0.05). Except rs3774261, the distribution of genomics in normal group and osteopenia group was in Hardy-Weinberg equilibrium (P> 0.05) except Hardy-Weinberg equilibrium (P <0.05). Among them, only rs1063539 genotype had significant difference between NOR and LBM group (P = 0.003), CG genotype in LBM group was significantly more than GG genotype (P <0.01). After adjusting for age, weight, height and body mass index, multivariate logistic regression analysis with 5 polymorphic loci as independent variables showed that only rs1063539 polymorphism had a significant correlation with BUA (adjusted OR = 3.210, 95 % CI: 1.631 ~ 6.137, P = 0.001), and independent of the traditional risk factors of bone loss. Conclusion The rs1063539 polymorphism of exon 3 of APN gene is associated with BMD of Zhuang women. GG type has a protective effect on BMD. CG type is a risk factor for the decrease of BMD. There was no correlation between rs12495941, rs266729, rs3774261 and rs710445 polymorphisms and Zhuang female BMD.