引用本文:罗世兴1,张均锦1,龙光华1,董桂甫1,苏 伟2,秦 雪3.白介素-16基因多态性与膝骨性关节炎的易感性研究[J].重庆医科大学学报,2014,38(7):951~955
白介素-16基因多态性与膝骨性关节炎的易感性研究
Association between susceptibility of knee osteoarthritis and genetic polymorphism of interleukin-16
DOI:
中文关键词:    骨性关节炎  多态性  单核苷酸  白介素-16
英文关键词:knee  osteoarthritis  polymorphism  single-nucleo-tide  interleukin-16
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作者单位
罗世兴1,张均锦1,龙光华1,董桂甫1,苏 伟2,秦 雪3 1. 广西医科大学第九附属医院骨科北海 5360002. 广西医科大学第一附属医院创伤骨科手外科南宁 5300213. 广西医科大学第一附属医院临床检验中心南宁 530021 
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中文摘要:
      目的:探讨汉族人群中白介素-16(interleukin-16,IL-16)基因单核苷酸多态性与膝关节骨性关节炎(knee osteoarthritis,KOA)的相关性。方法:采用“病例-对照”研究方法,纳入150例汉族KOA患者与147例非KOA受试者,其年龄、性别、体质指数相匹配。采用苯酚氯仿法提取外周血白细胞基因组DNA,聚合酶链反应限制性片段长度多态性的方法检测IL-16基因rs11556218、rs4072111和rs4778889 3个位点与KOA的遗传易感相关性,并用基因测序验证结果。结果:病例组和对照组中3个位点基因型分布均符合Hardy-Weinberg平衡。KOA组rs11556218的T/G基因型频率高于非KOA的人群(OR=2.06,95%CI=1.26~3.35,P=0.005),G/G也明显增加发病风险(OR=2.52,95%CI=1.10~5.74,P=0.005),rs4072111的C/T基因型KOA的发病风险较C/C基因型明显增加(OR=2.45,95%CI=1.42~4.22,P=0.000),T/T也明显增加发病风险(OR=4.04,95%CI=1.06~15.37,P=0.000);rs11556218与rs4778889存在连锁不平衡关系(D’=0.63,R2=0.236),单倍型TTT增加KOA的发病风险(OR=3.70,95% CI=1.57~8.72,P=0.003),GCC也增加了KOA的发病风险(OR=6.22,95%CI=2.37~16.33,P=0.000)。结论:汉族人群中IL-16基因多态性可能与KOA易感性有关。
英文摘要:
      Objective:To evaluate the association between the susceptibility of knee osteoarthritis(KOA) and the gene polymorphisms of interleukin-16 in Han population. Methods:A case-control design was employed in this study. A total of 150 patients di-agnosed with primary KOA and 147 controls matched for age,sex and body mass index of Han ancestry were enrolled. Periph-eral blood samples were collected,and the polymerase chain re-action and restriction fragment length polymorphism analysis were used to check the three single nucleotide polymorphisms in the interleukin-16(IL-16)gene. The results were verified by gene sequencing. Results:The genotypes and polymorphisms were distributed in line with the Hardy-Weinberg equilibrium in the case and control groups. The results of non-conditional logistic regression analysis in codominant model showed that T/G genotype(rs11556218) may be a risk factor(OR=2.06;95%CI=1.26 to 3.35;P=0.005),G/G genotype(rs11556218) may be another risk factor(OR=2.52;95%CI=1.10 to 5.74;P=0.005),C/T genotype(rs4072111) may be a risk factor(OR=2.45;95%CI=1.42 to 4.22;P=0.000)and T/T genotype(rs4072111) also increased the risk of KOA(OR=4.04;95%CI=1.06 to 15.37;P=0.000). Linkage disequilibrium was found between loci rs11556218 and rs4778889(D’=0.63,R2=0.236). Further stratification analysis by SNPstats based on phenotype showed that TTT may be a risk factor(OR=3.70;95%CI=1.57 to 8.72;P=0.003) and GCC may be another risk factor(OR=6.22;95%CI=2.37 to 16.33;P=0.000). Conclusion:The genetic polymorphisms of IL-16 gene are one of risk factors associated with the susceptibility of knee osteoarthritis in the Chinese Han population.
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