Institute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russia.
J Dermatol Sci. 2012 Oct;68(1):9-18. doi: 10.1016/j.jdermsci.2012.07.002. Epub 2012 Jul 16.
The molecular basis of pathogenesis of psoriasis remains unclear, but one unifying hypothesis of disease aetiology is the cytokine network model. The class II cytokines (CF2) and their receptors (CRF2) are all involved in the inflammatory processes and single nucleotide polymorphisms (SNPs) in respective genes have been associated with psoriasis in a previous study of the Estonian population.
We performed a replication study of 47 SNPs in CF2 and CRF2 genes in independent cohorts of psoriasis patients of two ethnic groups (Russians and Bashkirs) from the Volga-Ural region of Russia.
DNA was obtained from 395 psoriasis patients of two ethnic groups from the Volga-Ural region of Russia and 476 ethnically matched controls. 47 SNPs in the loci of the genes encoding Class II cytokines and their receptors were selected by SNPbrowser version 3.5. Genotyping was performed using the SNPlex™ (Applied Biosystems) platform.
The genetic variant rs30461 previously associated in original case-control study in Estonians, was also associated in Russians (corrected P-value (Pc=0.008, OR=0.44), but did not reach statistical significance in the Bashkir population. Additionally, the haplotype analysis provided that CC haplotype formed by the SNPs rs30461 and rs955155 had a protective effect in Russians (Pc=0.0024, OR=0.44), supporting the involvement of this locus in the protection against psoriasis. Combined meta-analysis of three populations, including 943 psoriasis patients and 812 healthy controls, showed that the IL29 rs30461 C-allele was not associated with decreased risk of psoriasis (P=0.165, OR=0.68). Moreover, stratification of studies by ethnicity revealed a significant association in the European cohort (P=9.506E-006, OR=0.53).
Therefore, there is no overall evidence of association between psoriasis and SNP rs30461 of the IL29 gene, but there is some evidence to suggest that an association exists in Europeans. However, this current concept should be considered as preliminary and the results need to be confirmed in future independent studies.
银屑病发病机制的分子基础尚不清楚，但疾病发病机制的一个统一假说就是细胞因子网络模型。II 类细胞因子（CF2）及其受体（CRF2）都参与了炎症过程，先前在爱沙尼亚人群的研究中发现，相应基因的单核苷酸多态性（SNP）与银屑病有关。
我们在俄罗斯伏尔加-乌拉尔地区的两个不同种族（俄罗斯人和巴什基尔人）的银屑病患者独立队列中，对 CF2 和 CRF2 基因中的 47 个 SNP 进行了复制研究。
从俄罗斯伏尔加-乌拉尔地区的 395 名银屑病患者和 476 名种族匹配的对照中获得 DNA。通过 SNPbrowser 版本 3.5 选择了编码 II 类细胞因子及其受体的基因座中的 47 个 SNP。基因分型使用 SNPlex™（Applied Biosystems）平台进行。
先前在爱沙尼亚的原始病例对照研究中与遗传变异 rs30461 相关的基因，在俄罗斯人也相关（校正后 P 值（Pc=0.008，OR=0.44），但在巴什基尔人群中未达到统计学意义。此外，单体型分析表明，由 rs30461 和 rs955155 组成的 CC 单体型在俄罗斯人中具有保护作用（Pc=0.0024，OR=0.44），支持该基因座参与银屑病的保护。包括 943 名银屑病患者和 812 名健康对照在内的三个人群的合并荟萃分析显示，IL29 rs30461 C-等位基因与银屑病风险降低无关（P=0.165，OR=0.68）。此外，按种族分层的研究显示，在欧洲队列中存在显著关联（P=9.506E-006，OR=0.53）。
因此，IL29 基因的 SNP rs30461 与银屑病之间没有总体关联的证据，但有一些证据表明存在关联。然而，这一概念目前应被认为是初步的，需要在未来的独立研究中得到证实。
