Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes
Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes
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DOI：
10.1016/j.cyto.2012.05.030
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发表时间：
2012-10-01
期刊：
影响因子：
3.8
通讯作者：
Coto, Eliecer
中科院分区：
文献类型：
--
作者：
Eiris, Noemi;Santos-Juanes, Jorge;Coto, Eliecer
背景和目的：最近的基因组研究证实IL12B是银屑病(Ps)的易感基因。我们的目标是复制IL12B SNP与Ps之间的关联。此外，我们对几名患者的IL12B基因进行了测序，以确定可以解释这种疾病风险的新变异。结果：共有304例PS-患者和422名健康对照(均为西班牙高加索人)进行了IL12B基因3个多态性的基因分型。SNP rs6887695(CC)与Ps显著相关(P=0.002；OR=1.6，95%CI=1.19~2.16)。该基因在严重银屑病患者中也更常见(p=0.03)。对30名具有风险基因的患者进行测序，发现了几个IL12B报告的SNPs。两个假定的功能变异(rs3213120和rs3213119)的等位基因和基因型频率在患者和对照组之间没有差异。结论：我们的研究证实rs6887695是Ps的危险因素。在我们的患者中没有发现其他可以解释这种关联的IL12B变异体。(C)2012爱思唯尔有限公司。保留所有权利。
Background and aims: Recent genomic surveys have identified IL12B as susceptibility locus for psoriasis (Ps). Our aim was to replicate the association between IL12B SNPs and Ps. In addition, we sequenced the IL12B gene in several patients to identify new variants that could explain the disease-risk. Results: A total of 304 Ps-patients and 422 healthy controls (all Caucasian Spanish) were genotyped for three IL12B polymorphisms. SNP rs6887695 (CC genotype) was significantly associated with Ps (p = 0.002; OR= 1.60, 95% CI = 1.19-2.16). This genotype was also more frequent among patients with severe psoriasis (p = 0.03). Sequencing of 30 patients with the risk genotype identified several IL12B reported SNPs. Allele and genotype frequencies for two putative functional variants (rs3213120 and rs3213119) did not differ between patients and controls. Conclusions: Our study confirmed rs6887695 as a risk factor for Ps. No other IL12B variants that could explain this association were found in our patients. (C) 2012 Elsevier Ltd. All rights reserved.