Song Yang, Du Zhenwu, Yang Qiwei, Ren Ming, Wang Qingyu, Chen Gaoyang, Zhao Haiyue, Li Zhaoyan, Zhang Guizhen
Department of Orthopedics of Second Clinical College of Jilin University, Changchun, 130041, China.
The Engineering Research Centre of Molecular Diagnosis and Cell Treatment for Metabolic Bone Diseases of Jilin Province, Changchun, 130041, China.
Oncotarget. 2017 Aug 22;8(42):72381-72388. doi: 10.18632/oncotarget.20393. eCollection 2017 Sep 22.
Genome-wide association studies have identified that the gene variants in Wnt signaling associate with bone mineral density and fracture risk but the effects of the variants on the development of osteonecrosis of the femoral head (ONFH) have been unclear. Here, we analyzed the polymorphisms of 4 variants in and genes of Wnt signaling and their association with the development of ONFH through Mass ARRAY platform in 200 ONFH patients and 177controls in Chinese population. Our results showed that the genotypes and allele frequencies of all variants detected in and genes were not significantly different between patients and controls ( > 0.05); the correlation analysis between the 4 variants genotypes and gender, age at onset, etiological classification, unilateral or bilateral hip lesions, and clinical stages of ONFH, respectively, did not confirm significant association ( > 0.05) although age at onset in the minor homozygous(CC) carriers of rs1052981 (T/C) was a statistically younger tendency than that of the major homozygous (TT) or heterozygous (TC) of the SNP ( = 0.051); moreover, all haplotypes analyzed and their association with the clinical phenotypes of ONFH were also shown no statistical significance ( > 0.05).These results suggest that the 4 variants analyzed by this study in and genes of Wnt signaling pathway are unlikely to be associated with susceptibility to ONFH.
全基因组关联研究已经确定，Wnt信号通路中的基因变异与骨密度和骨折风险相关，但这些变异对股骨头坏死（ONFH）发展的影响尚不清楚。在此，我们通过Mass ARRAY平台分析了中国人群中200例ONFH患者和177例对照者Wnt信号通路中 和 基因的4个变异的多态性及其与ONFH发展的相关性。我们的结果显示，在 和 基因中检测到的所有变异的基因型和等位基因频率在患者和对照者之间没有显著差异（>0.05）；尽管rs1052981（T/C）的次要纯合子（CC）携带者的发病年龄比该单核苷酸多态性的主要纯合子（TT）或杂合子（TC）有统计学意义上更年轻的趋势（ = 0.051），但分别对这4个变异的基因型与性别、发病年龄、病因分类、单侧或双侧髋关节病变以及ONFH的临床分期进行的相关性分析并未证实有显著关联（>0.05）；此外，分析的所有单倍型及其与ONFH临床表型的相关性也没有统计学意义（>0.05）。这些结果表明，本研究分析的Wnt信号通路中 和 基因的4个变异不太可能与ONFH的易感性相关。
