陕西关中人群骨质疏松性骨折与细胞色素P450芳香化酶编码基因的关联分析

Correlation analysis of cytochrome P450c19 genes with osteoporotic fracture in a large sample of Shaanxi Guanzhong Population

目的探讨骨质疏松性髋部骨折(osteoporotic hip fracture,OHF)与细胞色素P450芳香化酶编码基因(cyto-chrome P450c19,CYP19)多态性的关系。方法采用群体关联分析的方法,对来自陕西关中人群的400例OHF患者和400例正常对照的7个单核苷酸多态性(single nucleotide polymorphisms,SNP)位点进行了分型实验和单体型的病例-对照研究。结果共700个个体分型成功,haploview关联分析识别出了3个单体域的单体型,并挑选出7个标签SNP。方差分析的结果表明,位于CYP19基因的SNP位点rs643892和rs3781590以及单体域3区多态性与髋部骨折之间存在相关性。结论细胞色素P450芳香化酶编码基因和我们所研究的陕西关中汉族群体的骨质疏松性骨折(osteoporotic fracture,OF)发病率关联。细胞色素P450芳香化酶编码基因可能对中国陕西关中汉族人群OHF的发病率有影响。

Objective To study the relationship between osteoporotic hip fracture（OHF） and polymorphism of cytochrome P450c19 genes.Methods By using a group correlation analysis,we made a case-control study of seven single nucleotide polymorphism（SNP） sites groupinge and haplotype in 400 OHF patients from Shaanxi Guanzhong population and 400 normal samples as controls.Results A total of 700 samples were successfully genotyped.Correlation analysis identified three blocks and selected seven tag SNPs.According to the variance analysis,rs7167343,rs8031463,and polymorphism of haplotype 3 were associated with hip fracture.Conclusion Cytochrome P450c19 genes have association with the incidence of osteoporotic fracture in the Han population we studied from Shaanxi Guanzhong region.Therefore,cytochrome P450c19 genes may affect the incidence of osteoporotic hip fracture in the Han population from Guanzhong region,Shaanxi Province.