Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes

被引：16
作者：
Eiris, Noemi [1 ]
Santos-Juanes, Jorge [1 ]
Coto-Segura, Pablo [1 ]
Gomez, Juan [1 ]
Alvarez, Victoria [1 ]
Morales, Blanca [1 ]
Queiro, Ruben [1 ]
Diaz, Marta [1 ]
Corao, Ana I. [1 ]
Lopez-Corte, Katia [1 ]
Coto, Eliecer [1 ]
机构：
[1] Hosp Univ Cent Asturias, Oviedo, Spain
来源：
CYTOKINE | 2012年 / 60卷 / 01期
关键词：
Psoriasis; IL12B; Sequencing; Gene polymorphism; ASSOCIATION; POLYMORPHISM; SUSCEPTIBILITY; VARIANTS; ONSET; IL23R;
D O I：
10.1016/j.cyto.2012.05.030
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
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收藏
页码：27 / 29
页数：3
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