广西壮族人群8q24.21区域单核苷酸多态性与腰椎退行性疾病的相关性:800例资料分析

Association between single nucleotide polymorphism(8q24.21) and lumbar degeneration disease in 800 cases from Guangxi Zhuang Autonomous Region

背景:基于北欧人群的全基因组关联分析研究发现8q24.21区域的单核苷酸多态性与腰椎间盘突出存在相关性,但由于存在种族差异性,其研究结果在其他人群尚未验证。目的:探讨在广西壮族人群中8q24.21区域单核苷酸多态性与腰椎退行性疾病是否存在相关性。方法:病例组为2015年1月至2016年12月住院治疗的腰椎退行性疾病的壮族患者400例,对照组为年龄匹配的正常壮族成年人400名。试验获得广西医科大学附属第一医院的伦理委员会批准。所有受试者均自愿入组,并签署知情同意书。根据MRI影像学特征,将病例组分为腰椎间盘突出、腰椎滑脱、腰椎管狭窄3个亚组。提取受试者基因组DNA,运用TaqMan探针技术对8q24.21区域rs7816342、rs4130415位点进行PCR荧光分型;并比较各组的等位基因频率、基因型频率分布差异。结果与结论:①rs7816342、rs4130415位点的等位基因频率和基因型频率在病例组和对照组间差异无显著性意义(基因型:rs7816342;P=0.370,rs4130415,P=0.668),但上述2个位点的基因型频率,在腰椎管狭窄组和对照组间差异有显著性意义(基因型:rs7816342,P=0.008;rs4130415,P=0.006);②结果提示8q24.21区域rs7816342、rs4130415位点基因多态性与腰椎管狭窄存在显著相关性。

BACKGROUND: A genome-wide association analysis performed on North European shows that single nucleotide polymorphism(8q24.21) is related to lumbar disc herniation, but the result in the other populations has not been confirmed. OBJECTIVE: To investigate the association between single nucleotide polymorphism(8q24.21) and lumbar degenerative disease in Guangxi Zhuang population. METHODS: Four hundred Zhuang populations with lumbar degenerative disease from January 2015 to December 2016 were selected as case group, and 400 healthy Zhuang adults as control group. The study was approved by the Ethics Committee of the First Affiliated Hospital of Guangxi Medical University. All participants were voluntary to the study and signed the informed consents. The case group was assigned into three subgroups based on MRI performance: lumbar disc herniation, lumbar spondylolisthesis, and lumbar spinal stenosis. The genomic DNA was extracted, and rs7816342 and rs4130415(8q24.21) typing was detected by TaqMan prob. The distribution difference of allele frequency and genotype frequency was compared. RESULTS AND CONCLUSION:(1) The allele frequency and genotype frequency of rs7816342 and rs4130415(8q24.21) showed no significant difference between two groups(rs7816342, P=0.370;rs4130415, P=0.668). The genotype frequency of rs7816342 and rs4130415 was significantly different between lumbar spinal stenosis and control groups(rs7816342, P=0.008;rs4130415, P=0.006).(2) In summary, rs7816342 and rs4130415 polymorphism(8q24.21) is associated with lumbar spinal stenosis.