广西壮族女性碱性成纤维生长因子基因单核苷酸多态性与骨质疏松

Association between basic fibroblast growth factor gene single nucleotide polymorphisms and osteoporosis in female population of Zhuang nationality in Guangxi

背景:有研究表明碱性成纤维生长因子在骨修复中发挥重要作用,但其基因多态性与骨质疏松和骨代谢的关系至今少有报道。目的:观察碱性成纤维生长因子基因5个单核苷酸多态性与广西百色地区壮族女性骨密度的关系。方法:选取239例跟骨骨量减少患者和83例骨量正常者进行病例-对照研究。采用单碱基延伸的单核苷酸多态性分型技术对广西百色地区322例壮族女性的脂联素基因的5个位点(rs12644427,rs3789138,rs308379,rs308442和rs3747676)进行了基因分型,采用Osteospace干式超声骨密度仪测量右侧跟骨超声振幅衰减。结果与结论:rs12644427,rs3789138,rs308379,rs308442和rs3747676多态性分布均符合Hardy-Weinberg遗传平衡定律(P>0.05)。以5个多态性位点作为自变量的多元Logistic回归显示仅rs308379多态性与跟骨骨量减少显著相关(OR=2.123,95%CI:1.004-4.491,P=0.049)。结果说明碱性成纤维生长因子基因第1内含子rs308379多态性与壮族女性骨密度可能有一定关联,其中AA型可能对骨密度具有一定的保护作用,TT型是骨密度降低的危险因素。rs308442,rs12644427,rs3789138及rs3747676多态性与壮族女性骨密度无相关性。

BACKGROUND：Studies have shown that basic fibroblast growth factor plays an important role in bone repair,but the relationship of basic fibroblast growth factor gene polymorphism with bone metabolism in osteoporosis has rarely been reported.OBJECTIVE：To investigate the correlation of five single nucleotide polymorphisms of basic fibroblast growth factor gene and bone mineral density of Guangxi Zhuang nationality women.METHODS：A case-control study was carried out in 239 osteopenia patients and 83 matched controls.Genotypes for five loci of basic fibroblast growth factor gene（rs12644427,rs3789138,rs308379,rs308442 and rs3747676） 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 AND CONCLUSION：rs12644427,rs3789138,rs308379,rs308442 and rs3747676 polymorphisms met with Hardy-Weinberg equilibrium（P〈0.05）.Multivariate logistic regression analyses revealed only rs308379 polymorphism remained significantly associated with low bone mass（odds ratio=2.123,95% confidence interval：1.004-4.491,P=0.049）.The results confirm that,intron 1 rs308379 polymorphism of basic fibroblast growth factor gene and bone mineral density of Zhuang nationality women from Zhuang Autonomous Region have some relevance.The presence of the TT genotype may dominantly increase the risk for reduced bone mineral density.AA genotype has a protective effect on bone mineral density.The data also suggest that the rs308442,rs12644427,rs3789138 and rs3747676 polymorphisms are not associated with the bone mineral density of Zhuang nationality women.