白介素-16基因多态性与膝关节原发骨性关节炎易感性的关联研究  

Genetic polymorphism of interleukin-16 in susceptibility to knee osteoarthritis in the Chinese population

作　　者：罗世兴[1] 秦雪[2] 赵劲民[1] 苏伟[1] 邓燕[2] 花奇凯[1] 李晓峰[1] 廖亮[1] 

机构地区：[1]广西医科大学第一附属医院创伤骨科手外科,南宁530021 [2]广西医科大学第一附属医院检验科,南宁530021

出　　处：《中国矫形外科杂志》2011年第11期947-951,共5页Orthopedic Journal of China

摘　　要：[目的]探讨白介素-16(IL-16)基因多态性与膝关节原发性骨性关节炎(OA)的易感关联。[方法]采用病例-对照研究,纳入95例中国汉族膝OA患者和95例年龄、性别匹配的健康对照者。用聚合酶链反应和限制性片段长度多态性等方法筛查IL-16基因的三个单核苷酸多态性(SNP)位点,并测序验证酶切结果。进行拟和优度x2检验、H-W平衡检验、连锁不平衡分析、单个位点和单倍型的非条件Logistic回归,分析IL-16基因多态性与膝OA的易感关联。[结果]三个SNP位点均符合H-W平衡。显性遗传模式非条件Logistic回归显示,rs11556218位点中,T/G基因型对膝OA可能有保护作用(OR=0.40,95%CI=0.21-0.73,P=0.008);rs4072111中,C/T可能增加发病风险(OR=1.98,95%CI=1.08-3.65,P=0.036)。连锁不平衡分析提示rs11556218与rs4778889存在连锁不平衡(D'=0.625,r2=0.217),单倍型TTT可能增加发病风险(OR=2.42,95%CI=1.15-5.10,P=0.021),GCC可能减低发病风险(OR=0.43,95%CI=0.19-0.98,P=0.045)。[结论]中国汉族人群中,IL-16基因的rs11556218、rs4072111、rs4778889位点的多态性可能与膝OA易感性相关。[ Objective] To investignte the association of interleukin - 16 （IL - 16） single -nucleotide polymorphisms （SNPs） with in IL- 16 and knee osteoarthritis susceptibility. [ Methods] The polymerase chain reaction and restriction fragment length polymorphism analysis were used to check 3 SNPs in the IL - 16 gene from 95 primary knee osteoarthritis patients and 95 controls matched for age and sex of Chinese Han ancestry. Genotypes and allele frequencies were calculated by SPSS, and Hardy - Weinberg equilibriums were analyzed through Goodness - of - fit Chi - square test. Non - conditional logistic regression was performed to evaluate the association between knee osteoarthritis susceptibility and genotypes. Link disequilibrium analysis and haplotype - association analysis were calculated using the Haploview 4. 2 and SNPstats. [ Results ] All genotype distri- butions of 3 SNPs met Hardy - Weinberg equilibrium criteria （ P 〉 0. 05 ） . The results of non - conditional logistic regression analysis in codominant model showed that the T/T genotype （rs11556218） could be a protective factor （ OR = 0. 40, 95% CI = 0. 21 -0. 73, P =0. 0083） and the C/T genotype （rs4072111） could be a risk factor （ OR = 1.98, 95% CI = 1.08 -3.65, P = 0. 036） . Linkage disequilibrium was found between loci rs11556218 and rs4778889 （ D＇= 0. 625, r^2 = 0. 217）, further stratification analysis by SNPstats based on phenotype showed that TIT could be a risk factor （ OR = 2.42, 95% CI = 1.15 - 5.10, P = 0. 021 ） and GCC could be a protective factor （ OR = 0.43, 95% CI ： 0. 19 - 0. 98, P = 0. 045 ） . [ Conclusion] The genetic polymorphisms in rs11556218, rs4072111 and rs4778889 of IL- 16 gene may be associated with knee osteoarthritis susceptibility in the Chinese Han population.

关 键 词：膝关节骨性关节炎 基因 单核苷酸多态性 

分 类 号：R684.3[医药卫生—骨科学] R394.5[医药卫生—外科学]