陕西关中人群骨质疏松性骨折与雌激素受体α基因的关联分析

Association of estrogen receptor-α gene polymorphisms with osteoporotic fracture in a large sample of Shaanxi Guanzhong

目的:探讨骨质疏松性髋部骨折(OHF)与雌激素受体-α(ER-α)基因多态性的关系.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例正常对照进行10个单核苷酸多态性(SNP)位点和单体型的病例-对照研究.结果:共700个个体分型成功,haploview关联分析的结果表明rs3020314,rs1884051,rs1569788,rs6930355,rs6557192,rs1884152,rs3778089的多态性对骨折有影响;单体型分析的结果表明,ER-α单体域1内TT和CC,单体域2内GATCA与骨折存在关联.结论:ER-α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发病率关联.ER-α基因可能对中国陕西关中汉族人群OHF发病率的变化起到影响.

AIM：To study the relationship between Osteoporotic hip fracture（OHF）and estrogen receptor-α（ER-α） gene polymorphisms. METHODS：We used the method of association analyses to study the crowded who come from Shaanxi Guanzhong,include 400 samples who suffer osteoporotic hip fracture and 400 samples who are normal as control,to study the case-control study of ten Single Nucleotide Polymorphisms（SNP）sites and haplotype. RESULTS：Seven hundred samples were successfully genotyped. Association analysis showed that rs3020314,rs1884051, rs1569788, rs6930355, rs6557192, rs1884152, rs3778089 and TT and CC in haplotype 1 and GATCA in haplotype 2 of ER-α were associated with hip osteoporotic fracture. CONCLUSION： Gene of ER-α have association with the incidence of osteoporosis fracture of the crowded which we study from Shaanxi Guanzhong. Gene of ER-α may have influence on indication of osteoporotic hip fracture of the crowded from Shaanxi Province Guanzhong area in China.