腰椎间盘退变与COL9A2基因单核苷酸多态性的相关性

背景：有研究证实，腰椎间盘退变与基因有密切关系。目的：探讨COL9A2基因单核苷酸多态性(rsl2722877、rs3737820和rs209914)与腰椎间盘退变性疾病的关系。方法：腰椎间盘退变性疾病患者280例，年龄、性别匹配的268例非腰椎间盘退变性疾病患者作为正常对照组，均来自广西壮族。收集腰椎间盘退变性疾病患者、非腰椎间盘退变性疾病患者的血液样本，提取基因组DNA，设计针对COL9A2基因rsl2722877、rs3737820和rs209914位点的PCR引物、TaqMan探针，利用TaqMan探针技术对rsl2722877、rs3737820和rs209914位点进行PCR荧光分型。采用SPSS17.0软件进行等位基因频率及基因型频率分析。结果与结论：rsl2722877、rs3737820和rs209914位点的各基因型与等位基因频率分布在病例组和对照组之间均差异有显著性意义(P < 0.05)。COL9A2基因单核苷酸多态性rsl2722877、rs3737820和rs209914与广西壮族人群腰椎间盘退变性疾病易感性密切相关。

Correlation between lumbar disc degeneration and COL9A2 gene single nucleotide polymorphisms

BACKGROUND:Studies have shown that lumbar disc degeneration is closely related to genes.OBJECTIVE:To explore the relationship between COL9A2 gene single nucleotide polymorphisms (rsl2722877, rs3737820 and rs209914) and lumbar disc degeneration.METHODS:280 patients with lumbar degenerative disc disease were selected, and 268 age- and sex-matched patients without lumbar degenerative disc disease were selected as control group. All the patients came from Guangxi Zhuang Autonomous Region. The blood samples were collected from the patients with lumbar degenerative disc disease and without lumbar degenerative disc disease to extract the genomic DNA and to design PCR primers and TaqMan probe for the rsl2722877 rs3737820 and rs209914 sites of COL9A2 gene. The allele frequency and genotype frequency were analyzed with SPSS17.0 software.RESULTS AND CONCLUSION:The differences of genotype and the allele frequency distribution of rsl2722877 rs3737820 and rs209914 sites were statistically significant (P < 0.05). The COL9A2 gene single nucleotide polymorphisms rsl2722877, rs3737820 and rs209914 were closely related with susceptibility of lumbar degenerative disc disease in Guangxi Zhuang population.