广西百色地区壮族妇女脂联素基因单核苷酸多态性与骨密度的关系

Correlation of the adiponectin gene single nucleotide polymorphisms with bone mineral density in females of Guangxi Zhuang nationality

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 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 （P 〉 0. 05 ）. Except that the distribution of rs3774261 in the control group did not meet with Hardy-Weinberg equilibrium （P 〈 0. 05 ） , the remaining site genotype frequencies in the normal group and the osteopnia group were met with Hardy-Weinberg equilibrium （ P 〉 0. 05）. There was no significant difference in the genotype distributions of five locis polymorphism between LBM group and control group （ P 〉 0.05 ）.Among them, only rs1063539 genotypes in the control group and patient group were significantly different （P = O. 003 ） , and CG genotype in the control group was significantly less than the number of GG genotype （ P 〈 O. 01 ）. After adjustments for age, weight, height, movement and body mass index, multivariate Logistic regression analyses revealed that only rsi063539 polymorphism remained significantly associated with low bone mass（ LBM ） （P 〈 0.01 ）. The subjects with the combined CG genotype had higher risk of LBM compared with those with the GG genotype（ adjusted OR=3. 210,95% CI： 1. 631-6. 137 ,P =0. 001 ）. Polymorphism of rs1063539 was independently correlated with I,BM at the caleaneal in Baise Zhuang female population. Conclusion APN gene exon 3 of rs1063539 polymorphism and BMI） 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 BMI）. The data also suggest that the rs12495941, rs266729, rs3774261 and rs710445 polymorphism may not be associated with the Zhuang women osteopenia.