摘要
目的探讨IL-1β基因的单核苷酸多态性和单体型与中国汉族人晚期膝骨关节炎(KOA)的易感性相关。方法采用病例对照研究,纳入120例中国汉族膝OA患者和130例年龄、性别匹配的健康对照者,用酶联免疫吸附测定法(ELISA)测定血清中IL-1β的水平,用聚合酶链反应和限制性片段长度多态性(PCR-RFLP)方法对IL-1β基因的-511C/T(rs16944)、+3954C/T(rs114363)和-31C/T(rs1143627)位点进行单核苷酸多态性进行分析,并测序验证酶切结果。结果膝骨性关节炎患者组血清中白细胞介素1β水平明显高于健康对照组(t=-8.26,P<0.01),单核苷酸多态性分析显示:在膝OA患者组和健康对照组之间IL-1B-31C/T位点基因型分布和等位基因频率没有明显差异,该研究中没有发现IL-1B+3954TT基因型。膝OA患中的IL-1B-511TC、IL-1B+3954CT基因型频率较健康对照组增加(P<0.05,P<0.05),通过Logistic回归分析,IL-1B-511TC、IL-1B+3954CT基因型与膝OA高风险发病率具有相关性(IL-1B-511TC,OR=1.842,95%CI=1.021-3.327,P<0.05;IL-1B+3954CT,OR=2.372,95%CI=1.022-5.509,P<0.05)。此外,单体型分析显示与单体型TCC相比,单体型TCT和CCC与膝OA高风险发病率具有更强的相关性(TCT.OR=3.24,95%CI:1.50-7.00,P<0.01;CCC.OR=6.07,95%CI:2.20-16.07,P<0.01)。结论白细胞介素-1β基因的-511C/T(rs16944)和+3954C/T(rs114363)位点多态性与中国汉族人膝OA的易感性相关。
Objective To investigate whether single nucleotide polymorphisms （SNPs） and haplotypes of IL - 1β are associated with susceptibility to advanced knee osteoarthritis （KOA） in Han population of China. Methods A case-control study was carried out. 120 cases of Chinese Han patients with knee OA were selected, while 130 healthy people were set as control group, who were matched in age and sex. The serum level of IL- 1β was measured with an enzyme-linked immunosorbent assay （ELISA）. SNPs at positions - 511 C/T （ rs16944 ） ＋ 3954C/T （ rs114363 ） and - 31 C/T （ rs1143627 ） in the IL - 1β gene promoter were analyzed using polymerase chain reaction restriction fragment length polymorphism （PCR-RFLP） and the enzymedigestion and sequencing were also performed. Results The serum levels of IL - 1β were significantly higher in KOA patients than healthy controls （ t = - 8.26, P 〈 0. 01 ）. SNP analysis showed no significant differences in the allelic and genotypie frequencies of IL- 1β -31C/T between the KOA patients and healthy controls. No IL - 1β ＋ 3954TF genotype was found in this study. An increased frequency of IL - 1β -511 CT and IL - 1β ＋ 3954CT genotype was noticed in KOA patients （ P 〈 0.05, P 〈 0.05 ）. In a logistic regression analysis, the IL - 1 β - 511CT and IL - 1B ＋ 3954CT genotypes were associated with an odds ratio for KOA （ IL - 1 β - 511TC, Oil = 1. 842, 95 % CI = 1. 021 - 3. 327, P 〈 0. 05 ; IL - 1β ＋ 3954CT, OR = 2. 372, 95% CI = 1. 022 - 5. 509, P 〈 0. 05 ）. Furthermore, haplotype analysis revealed that TCT and CCC haplotypes were associated with a significantly increased risk of KOA as compared with the TCC haplotype （TCT. OR =3.24, 95%CI： 1.50 -7.00, P 〈0.01; CCC. OR=6.07, 95%CI： 2.20 -16.07, P 〈0.01）. Conclusions Our results indicate that the gene polymorphisms at positions - 511C/T （rs16944） and ＋ 3954C/T （ rs114363 ） of IL - 1 β may contribute of the susceotibility to KOA in Han oooulation of China.
出处
《中华关节外科杂志（电子版）》
CAS
2013年第3期71-76,共6页
Chinese Journal of Joint Surgery(Electronic Edition)
