转化生长因子-β基因多态性与广州地区汉族人群骨质疏松相关性研究

Correlation between TGF-β Gene Polymorphism and Osteoporosis in Han Population of Guangzhou district

目的:研究转化生长因子基因β_1(TGF-β_1)的单核苷酸多态性(SNPs)与广州地区汉族人群骨质疏松的关系。方法:选择123例骨质疏松患者为观察组,140例骨量正常人群为对照组,采用PCR-RFLP法对TGF-β_1基因中C-988A、C-509T和G-800A基因的SNPs进行分型。应用超声骨密度仪测量右侧跟骨超声振幅衰减(BUA)。结果:C-988A、C-509T和G-800A多态性分布均符合Hardy-Weinberg平衡(P>0.05)。以3个多态性位点做自变量多元Logistic回归显示,C-509T多态性与骨质疏松显著相关(OR=1.725,59%CI:1.068-3.136,P=0.031)。结论:TGF-β_1基因C-509T多态性与广州地区汉族老年人群骨密度(BMD)有关,其中AA型和TT型可能对BMD具有一定保护作用,CT型是BMD降低的危险因素。

Objective: To investigate the relationship between single nucleotide polymorphisms (SNPs) of transforming growth factor β 1 (TGF-β 1 ) and osteoporosis in Han population of Guangzhou district. Methods: 123 cases of osteoporosis were selected as the observation group, meanwhile 140 normal bone mass people as control group. SNPs of C-988A, C-509T and G-800A genes in TGF-β 1 were genotyped by PCR-RFLP method. Ultrasound bone densitometer was used to measure the attenuation of the right calcaneus broadband ultrasound attenuation (BUA). Results: The distributions of C-988A, C-509T and G-800A were in accordance with Hardy-Weinberg equilibrium( P >0.05). Logistic regression analysis showed that C-509T polymorphism was significantly associated with osteoporosis (OR=1.725, 59% CI: 1.068-3.136, P =0.031). Conclusions: C-509T polymorphism of TGF-β 1 gene is associated with bone mineral density(BMD) in elderly Han population in Guangzhou, among of which AA and TT gene gype may have protective effect on BMD, while CT type is a risk factor for BMD reduction.