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本文引用的文献

1
Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and psoriatic arthritis.IL12B 多态性(rs3212227、rs6887695)与银屑病和银屑病关节炎的关联的荟萃分析。
Rheumatol Int. 2013 Jul;33(7):1785-90. doi: 10.1007/s00296-012-2637-4. Epub 2013 Jan 8.
2
Distinctive frequencies of +874T/A IFN-γ gene polymorphism in a healthy Serbian population.健康塞尔维亚人群中 IFN-γ 基因+874T/A 多态性的独特频率。
Clin Transl Sci. 2012 Dec;5(6):461-3. doi: 10.1111/cts.12000. Epub 2012 Oct 17.
3
Gene-gene interaction and functional impact of polymorphisms on innate immune genes in controlling Plasmodium falciparum blood infection level.基因-基因相互作用和多态性对固有免疫基因在控制恶性疟原虫血液感染水平中的功能影响。
PLoS One. 2012;7(10):e46441. doi: 10.1371/journal.pone.0046441. Epub 2012 Oct 12.
4
Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes.对携带 rs6887695/rs3212227 风险基因型的银屑病患者进行 IL12B 基因重测序。
Cytokine. 2012 Oct;60(1):27-9. doi: 10.1016/j.cyto.2012.05.030. Epub 2012 Jun 26.
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Psoriasis.银屑病。
Annu Rev Pathol. 2012;7:385-422. doi: 10.1146/annurev-pathol-011811-132448. Epub 2011 Nov 4.
6
Tumour necrosis factor gene polymorphism and disease prevalence.肿瘤坏死因子基因多态性与疾病流行情况。
Scand J Immunol. 2011 Dec;74(6):522-47. doi: 10.1111/j.1365-3083.2011.02602.x.
7
Human leukocyte antigen (HLA) and single nucleotide polymorphisms (SNPs) tumor necrosis factor (TNF)-alpha -238 and -308 as genetic markers of susceptibility to psoriasis and severity of the disease in a long-term follow-up Brazilian study.人类白细胞抗原 (HLA) 和单核苷酸多态性 (SNP) 肿瘤坏死因子 (TNF)-α-238 和 -308 作为银屑病易感性和疾病严重程度的遗传标志物的长期随访巴西研究。
Int J Dermatol. 2010 Oct;49(10):1133-40. doi: 10.1111/j.1365-4632.2010.04465.x.
8
Scoring and monitoring the severity of psoriasis. What is the preferred method? What is the ideal method? Is PASI passé? facts and controversies.评估和监测银屑病的严重程度。首选方法是什么?理想方法是什么?PASI 是否已经过时?事实与争议。
Clin Dermatol. 2010 Jan-Feb;28(1):67-72. doi: 10.1016/j.clindermatol.2009.03.001.
9
Genome-wide association scan yields new insights into the immunopathogenesis of psoriasis.全基因组关联扫描为银屑病的免疫发病机制带来新见解。
Genes Immun. 2009 Apr;10(3):201-9. doi: 10.1038/gene.2009.11. Epub 2009 Mar 5.
10
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.全基因组扫描揭示银屑病与白细胞介素-23及核因子κB信号通路的关联。
Nat Genet. 2009 Feb;41(2):199-204. doi: 10.1038/ng.311. Epub 2009 Jan 25.

塞尔维亚银屑病患者的TNF、IL12B和IFNG基因多态性

TNF, IL12B, and IFNG Gene Polymorphisms in Serbian Patients with Psoriasis.

作者信息

Popadic Svetlana, Savic Emina, Markovic Milos, Ramic Zorica, Medenica Ljiljana, Pravica Vera, Spuran Zorica, Trajkovic Vladimir, Popadic Dusan

机构信息

Department of Dermatovenereology, School of Medicine, University of Belgrade, Serbia. ; Clinic of Dermatovenereology, Clinical Center of Serbia, Serbia.

Institute of Microbiology and Immunology, School of Medicine, University of Belgrade, Serbia.

出版信息

Ann Dermatol. 2015 Apr;27(2):128-32. doi: 10.5021/ad.2015.27.2.128. Epub 2015 Mar 24.

DOI:10.5021/ad.2015.27.2.128
PMID:25834350
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4377400/
Abstract

BACKGROUND

Psoriasis is a common chronic inflammatory skin disease with a strong genetic basis. Cytokines such as tumor necrosis factor alpha (TNF-α), interleukins (ILs) such are IL-12 and IL-23, and interferon gamma (IFN-γ) are released from various inflammatory and resident cells, and have been implicated in the initiation/maintenance of inflammation. Certain alleles of the aforementioned cytokines may be associated with disease susceptibility/severity.

OBJECTIVE

To investigate the association of three common functional gene polymorphisms, namely TNF -308 G/A (rs1800629), IL12B (encoding the p40 subunit of IL-12/23) +1188 A/C (rs3212227), and IFNG +874 T/A (rs2430561) with psoriasis development and severity in Serbian patients.

METHODS

We genotyped 130 patients with psoriasis (26 of whom also had psoriatic arthritis) and 259 controls; rs1800629 and rs3212227, and rs2430561, by real-time PCR assay.

RESULTS

The TNF GG genotype was detected at a higher frequency in patients with psoriasis compared to control subjects (OR, 1.420; 95% CI, 0.8702.403) without statistical significance (p=0.191). Lack of the TNF G allele was associated with lower psoriasis severity (p=0.007). The IL12B AC genotype was underrepresented in the patients with psoriatic arthritis compared to healthy subjects (OR, 0.308; 95% CI, 0.0901.057; p=0.049). The distribution of the rs2430561 allele and genotype frequencies was similar between patients with psoriasis and controls.

CONCLUSION

Our study demonstrates an effect of the rs1800629 on psoriasis severity, and a marginal impact of the rs3212227 on susceptibility to psoriatic arthritis. Collectively, our results obtained in a Serbian cohort expand current knowledge regarding individual predisposition to psoriatic disease.

摘要

背景

银屑病是一种常见的具有强大遗传基础的慢性炎症性皮肤病。细胞因子如肿瘤坏死因子α(TNF-α)、白细胞介素(ILs)如IL-12和IL-23以及干扰素γ(IFN-γ)从各种炎症细胞和驻留细胞中释放出来,并与炎症的起始/维持有关。上述细胞因子的某些等位基因可能与疾病易感性/严重程度相关。

目的

研究三种常见的功能基因多态性,即TNF -308 G/A(rs1800629)、IL12B(编码IL-12/23的p40亚基)+1188 A/C(rs3212227)和IFNG +874 T/A(rs2430561)与塞尔维亚患者银屑病发生及严重程度的相关性。

方法

我们对130例银屑病患者(其中26例还患有银屑病关节炎)和259例对照进行基因分型;通过实时聚合酶链反应检测rs1800629、rs3212227和rs2430561。

结果

与对照相比,银屑病患者中TNF GG基因型的检测频率更高(比值比,1.420;95%可信区间,0.8702.403),但无统计学意义(p = 0.191)。缺乏TNF G等位基因与较低的银屑病严重程度相关(p = 0.007)。与健康受试者相比,银屑病关节炎患者中IL12B AC基因型的比例较低(比值比,0.308;95%可信区间,0.0901.057;p = 0.049)。银屑病患者和对照之间rs2430561等位基因和基因型频率的分布相似。

结论

我们的研究证明rs1800629对银屑病严重程度有影响,rs3212227对银屑病关节炎易感性有轻微影响。总体而言,我们在塞尔维亚队列中获得的结果扩展了目前关于银屑病个体易感性的知识。