Wu Zhihong, Yang Yong, Qiu Guixing
Department of Orthopedics, Peking Union Hospital , Beijing, China .
Genet Test Mol Biomarkers. 2013 Oct;17(10):756-62. doi: 10.1089/gtmb.2013.0225. Epub 2013 Aug 14.
Insights gained from studies suggest that genetic factors are major contributors to the onset and progression of intervertebral disc degeneration (IVDD). The aim of this study is to investigate whether fat mass- and obesity-associated (FTO) gene polymorphisms are related to the disease in Han Chinese People.
118 IVDD cases and 113 healthy subjects were enrolled in this study. Forty-four single nucleotide polymorphisms (SNP) in the FTO gene were tested and analyzed by the VeraCode GoldenGate Genotyping Assay.
A novel SNP rs11076008 was identified in the association analysis between the genotype and the phenotype. There was statistical significance in the expression of SNP rs11076008 in an allelic frequency distribution (p=0.003) and genotype (p=0.014) using the method of multi-test correction.
SNP rs11076008 of the FTO gene is associated with IVDD and may play an important role in developing IVDD in Han Chinese People. Our findings provide valuable information regarding the genetic etiology of IVDD in the investigated cohort.
研究获得的见解表明，遗传因素是椎间盘退变（IVDD）发病和进展的主要促成因素。本研究的目的是调查脂肪量和肥胖相关（FTO）基因多态性是否与汉族人群中的该疾病相关。
本研究纳入了118例IVDD病例和113名健康受试者。通过VeraCode金标准基因分型检测法对FTO基因中的44个单核苷酸多态性（SNP）进行检测和分析。
在基因型与表型的关联分析中鉴定出一个新的SNP rs11076008。采用多重检验校正方法，SNP rs11076008在等位基因频率分布（p = 0.003）和基因型（p = 0.014）的表达上具有统计学意义。
FTO基因的SNP rs11076008与IVDD相关，可能在汉族人群IVDD的发生中起重要作用。我们的研究结果为所研究队列中IVDD的遗传病因提供了有价值的信息。
