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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
引用本文:王金堂,武世勋,贾云辉.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[J].西安交通大学学报(医学版),2010,31(2).
作者姓名:王金堂  武世勋  贾云辉
作者单位:1. 西安交通大学医学院第一附属医院骨科,陕西西安,710061
2. 郑州市骨科医院,河南郑州,450052
基金项目:国家自然科学基金资助项目(No.30570875)Supported by the National Natural Science Foundation of China  
摘    要: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(cytochrome 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.

关 键 词:骨质疏松症  细胞色素P450  单核苷酸多态性  单体型  骨折

Correlation analysis of cytochrome P450c19 genes with osteoporotic fracture in a large sample of Shaanxi Guanzhong Population
WANG Jin-tang,WU Shi-xun,JIA Yun-hui.Correlation analysis of cytochrome P450c19 genes with osteoporotic fracture in a large sample of Shaanxi Guanzhong Population[J].Journal of Xi‘an Jiaotong University:Medical Sciences,2010,31(2).
Authors:WANG Jin-tang  WU Shi-xun  JIA Yun-hui
Institution:WANG Jin-tang1,WU Shi-xun1,JIA Yun-hui2(1.Department of Orthopedics,the First Affiliated Hospital,Medical School of Xi\'an Jiaotong University,Xi\'an 710061,2.Zhengzhou Orthopedics Hospital,Zhengzhou 450052,China)
Abstract: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 vari...
Keywords:osteoporosis  cytochrome P450c19 (CYP19) gene  single nucleotide polymorphism  haplotye  fracture
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