Association between GDF5 single nucleotide polymorphism rs143383 and lumbar disc degeneration.
Association between GDF5 single nucleotide polymorphism rs143383 and lumbar disc degeneration.
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GDF5单核苷酸多态性rs143383与腰椎间盘退变的关联
DOI：
10.3892/etm.2018.6382
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发表时间：
2018-09
影响因子：
2.7
通讯作者：
Tian J
中科院分区：
文献类型：
--
作者：
Wang Z;Li Y;Wang Y;Wang X;Zhang J;Tian J
探讨生长分化因子5（GDF 5）基因多态性（SNP）rs 143383与腰椎间盘退变（LDD）的关系。随机选择2013年8月至2017年3月在南京医科大学上海总医院确诊的210例LDD患者（观察组）和320例无腰椎疾病的患者（对照组）。然后，从每个患者的血液中提取脱氧核糖核酸（DNA），并使用Taq-man荧光定量聚合酶链反应（qPCR）技术检测GFD 5基因中的rs 143383。统计观察组和对照组不同基因型的频率，分析不同SNP基因型与LDD发病的关系。LDD患者组和对照组均获得了良好的基因分型结果。rs 143383位点TT和TC基因型在LDD组和对照组中的分布频率差异无统计学意义（P>0.05），而rs 143383位点CC基因型在LDD组和对照组中的分布频率差异有统计学意义（P<0.05）。在优势模型中，（TC+CC/TT）的比值比（OR）为1.195（P=0.532）。在隐性模型中，CC/TT+TC的OR值为4.333（P=0.028）。在共显性模型中，TC/TT和CC/TT的OR值分别为0.967和4.43（P=0.99）。3种基因型在不同病理分级（I ~ V级）间差异无统计学意义（χ2=1.034，P=0.998），T、C基因型间差异无统计学意义（χ2=0.012，P=0.999）。对显性模型、隐性模型和超显性模型的病理分级进行分析，差异无统计学意义（P>0.05）。结论：GDF 5基因rs 143383位点CC突变型与LDD的发病有较强的相关性，患病风险高，但与病理分级无明显相关性。
The association between growth differentiation factor 5 (GDF5), single nucleotide polymorphism (SNP) rs143383 and lumbar disc degeneration (LDD) was investigated. A total of 210 patients with LDD (observation group) and 320 patients without lumbar diseases (control group) diagnosed in Shanghai General Hospital of Nanjing Medical University from August 2013 to March 2017 were randomly selected. Then, deoxyribonucleic acid (DNA) was extracted from the blood of each patient, and Taq-man fluorescent quantitative polymerase chain reaction (qPCR) technique was used to detect rs143383 in GFD5 gene. The frequency of different genotypes in observation group and control group was counted, and the associations between different SNP genotypes and the incidence of LDD were analyzed. Good genotyping results were found in both LDD patient group and control group. There were no significant differences in distribution frequency of TT and TC genotypes at site rs143383 between LDD patient group and control group (P>0.05), but the distribution frequency of CC genotype at site rs143383 in LDD patient group had a statistically significant difference from that in control group (P<0.05). In dominant models, odds ratio (OR) of (TC+CC/TT) was 1.195 (P=0.532). In recessive models, OR of (CC/TT+TC) was 4.333 (P=0.028). In co-dominant models, ORs of (TC/TT) and (CC/TT) were 0.967 and 4.43, respectively (P=0.99). The differences in 3 genotypes showed no statistical significance among different pathological grades (Grade I to V) (χ2=1.034, P=0.998), and there was no statistically significant difference in T and C (χ2=0.012, P=0.999). Pathological grades in dominant models, recessive models and over dominant models were analyzed, and no statistically significant difference was found (P>0.05). In conclusion, CC mutant type at rs143383 in GDF5 gene has a strong association with the incidence of LDD, and a high prevalence risk, but it has no evident correlation with pathological grades.
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2.8
作者：
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通讯作者：
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