Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes
Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes
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DOI：
10.1111/j.1365-2133.2006.07420.x
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发表时间：
2006-10-01
影响因子：
10.3
通讯作者：
Tsai, S. F.
中科院分区：
文献类型：
--
作者：
Chang, Y. T.;Chou, C. T.;Tsai, S. F.
背景银屑病易感性候选基因PSORS 1C 3和corneodesmosin是银屑病易感基因中除HLA-Cw*0602等位基因外的两个可能的易感基因。PSORS 1C 3基因的-79C、-26C和+246A等位基因、CDSN* 971 T等位基因、CDSN*TTC（619 T-1236 T-1243 C）和CDSN*5（619 T-1240 G-1243 C）与高加索人群中的银屑病密切相关。到现在为止，PSORS 1C 3和CDSN基因的单倍型研究尚未在中国寻常型银屑病患者中报道。目的我们旨在确定PSORS 1C 3和CDSN基因的遗传多态性是否与中国台湾寻常型银屑病患者的风险增加相关。方法我们通过直接测序法研究了178例寻常型银屑病患者的PSORS 1C 3和CDSN基因的疾病关联203例正常人和203例对照组。结果PSORS 1C 3 * 582 A等位基因是中国人寻常型银屑病的主要易感等位基因，该等位基因位于PSORS 1C 3基因的3 '端非翻译区。早发性寻常型银屑病患者的相关性更强（22.3%vs.6.9%，OR = 3.87，P = 0.0000072）。CDSN*TTC和CDSN* 971 T在早发性寻常型银屑病患者中的频率也显著增加。PSORS 1C 3 * 582 A、SNP n.9*C、Cw*0602和HCR*WWCC之间几乎处于完全连锁不平衡（LD），而与CDSN基因之间的LD不明显。SNP n.9*C-Cw*0602-PSORS 1C 3 * 582 A-HCR *WWCC是早发性寻常型银屑病患者的主要易感单倍型（P < 10（-7）），该危险单倍型还携带CDSN*TTC和CDSN* 971 T。
Background Besides the HLA-Cw*0602 allele, the psoriasis susceptibility 1 candidate 3 (PSORS1C3) and corneodesmosin (CDSN) genes are two probable psoriasis susceptibility genes in the PSORS1 locus. The -79C, -26C and +246A alleles of the PSORS1C3 gene, the CDSN*971T allele, CDSN*TTC (619T-1236T-1243C) and CDSN*5 (619T-1240G-1243C) are strongly associated with psoriasis in the caucasian population. Until now, no haplotype study of the PSORS1C3 and CDSN genes has been documented in Chinese patients with psoriasis vulgaris.Objectives We aimed to determine whether genetic polymorphisms of the PSORS1C3 and CDSN genes were associated with an increased risk of psoriasis vulgaris in Chinese patients in Taiwan.Methods We investigated the PSORS1C3 and CDSN genes for disease association by direct sequencing in 178 patients with psoriasis vulgaris and 203 control subjects. Genotyping for HLA-Cw*0602, alpha-helix coiled-coil rod homologue (HCR) gene and single nucleotide polymorphism (SNP) n.9 was also carried out using a sequence-based typing method.Results The PSORS1C3*582A allele, an SNP in the 3'-untranslated region of the PSORS1C3 gene, was a major psoriasis vulgaris susceptibility allele in the Chinese population, and the association was much stronger in patients with early-onset psoriasis vulgaris (22.3% vs. 6.9%, odds ratio 3 87, P-c = 0.0000072). The frequencies of CDSN*TTC and CDSN*971T were also significantly increased in patients with early-onset psoriasis vulgaris. Moreover, PSORS1C3*582A, SNP n.9*C, Cw*0602 and HCR*WWCC were in near complete linkage disequilibrium (LD) with each other; in contrast, the LD with the CDSN gene was not so strong. SNP n.9*C-Cw*0602-PSORS1C3*582A-HCR*WWCC was a major susceptibility haplotype in patients with early-onset psoriasis vulgaris (P < 10(-7)) and this risk haplotype also carried CDSN*TTC and CDSN*971T.Conclusions The PSORS1C3 and CDSN genes are important psoriasis susceptibility genes in Chinese patients with psoriasis vulgaris.