陕西关中人群骨质疏松性骨折与雌激素受体β基因的关联分析

Association analysis of estrogen receptor-β gene polymorphisms with osteoporotic fracture in a large sample of Shanxi Guanzhong

目的探讨骨质疏松性髋部骨折(OHF)与雌激素受体β(ER-β)基因多态性的相关性。方法采用群体关联分析的方法,对来自陕西关中人群的400例骨质疏松性髋部骨折患者和400例正常对照进行3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rs7154455,rs960070的多态性对骨折有影响;单体型分析的结果表明,ER-β单体域GGT和CCT与骨折存在关联。结论①ER-β基因和我们所研究的陕西关中汉族群体的OF发病率关联;②ER-β基因可能对中国陕西关中汉族人群髋部OF发病率的变化起到影响。

Objective To study the relationship between Osteoporotic hip fractttre（OHF） and estrogen receptor-β （ER-β） gene polymorphisms. Methods We used the method of association analysis to study the crowded who come from Shanxi Guanzhong, include 400 samples who suffer osteoporotic hip fracture and 400 samples who were normal as control, to study the case-control study of three Single nucleotide polymorphisms （SNP）sites and haplotype. Results 700 samples were successfully genotyped. Association analysis showed that rs7154455, rs960070 and GGT and CCT of ER-β were associated with hip osteoporotic fracture. Conclusions Gene of ER-β has association with the incidence of osteoporosis fracture of the crowded which we study from Shanxi Guanzhong. Gene of ER-β may have influence on indication of osteoporotic hip fracture of the crowded from Shanxi Guanzhong area in China.