IL-12B和IL-23R基因多态性与中国汉族人银屑病易感性关联研究

目的 探讨中国汉族人群中IL-12B和IL-23R基因多态性与银屑病易感性的关系。方法 在217例银屑病患者和288例正常人对照中，采用DNA直接测序法对IL-12B和IL-23R基因的多态性位点进行基因分型，并将阳性结果在一个更大的包括578例银屑病患者和1422例正常人对照的整合样本群中，使用Taqman探针荧光PCR技术进行重复检验。实验数据进行Hardy-Weinberg平衡检验、卡方检验、单倍型分析和Logistic回归模型分析。结果 IL-12B rs6887695位点等位基因频率在病例组与对照组之间差异有统计学意义，OR = 1.33（95% CI 1.03 ~ 1.73），P = 0.028；IL-23R rs11465817和rs1343152位点等位基因频率在病例组与对照组之间差异无统计学意义（P > 0.05）。连锁不平衡分析发现，rs11465817和rs1343152位点之间有一定的连锁不平衡（D′ = 0.744，r2 = 0.281）。对2个位点进行单倍型分析发现，A-A ∶ OR = 2.890，P = 0.0018，提示这一单倍型具有显著的发病风险。结论 IL-12B基因rs6887695多态性与中国汉族人群银屑病易感性相关；IL-23R基因rs11465817、IL-23R基因rs1343152位点多态性与中国汉族人群银屑病易感性无显著相关性，但是，IL-23R基因rs11465817-rs1343152位点A-A单倍型的中国汉族人具有更高的银屑病发病风险。

Polymorphisms of interleukin-23 receptor (IL-23R) and its ligand (IL-12B) and their association with the susceptibility to psoriasis in Chinese Han population

Objective To investigate the association of IL-23R and IL-12B polymorphisms with susceptibility to psoriasis in Chinese Han population. Methods Patients with psoriasis were recruited based on the diagnostic criteria. In the first phase of the study, three SNPs (rs6887695, rs11465817 and rs1343152)were genotyped in DNA samples from 217 unrelated patients with psoriasis as well as 288 control subjects by direct sequencing. The positive SNP rs6887695 was validated in a larger combined sample including 578 patients with psoriasis and 1422 human controls, by using Taqman fluorescent PCR. The data were assessed by Hardy-Weinberg equilibrium test, chi square test, haplotype analysis and logistic regression model analysis. Results There was a significant difference in the allele frequency of SNP rs6887695 ( OR = 1.33, 95% CI 1.03 - 1.73,P = 0.028) of IL-12B between patients and controls, but not in that of the other two SNPs, rs11465817 and rs1343152 of IL-23R (P > 0.05 ). Hardy-Weinberg test showed that there was a linkage disequilibrium between rs11465817 and rs1343152 SNPs (D' = 0.744, r2 = 0.281 ); further analysis revealed a risk haplotype for psoriasis (A-A: OR = 2.890, P = 0.0018) constructed with 2 risk alleles of rs11465817 and rs1343152. Conclusions The susceptibility to psoriasis seems to be associated with the SNP rs6887695 of IL-1B gene but not with the SNPs rs11465817 or rs1343152 of IL-23R gene in Chinese Han population. The A-A haplotype of rs11465817-rs1343152 in IL-23R gene may increase the risk of psoriasis in Chinese Han population.