The Institute of Medical Science, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan,
Immunogenetics. 2013 Nov;65(11):823-8. doi: 10.1007/s00251-013-0721-x. Epub 2013 Aug 17.
Psoriasis is a common human skin disease whereby abnormal production of inflammatory mediators is believed to play an important role in its pathogenesis. The IL12B gene, which encodes the shared IL-12p40 subunit in two cytokines, IL-12 and IL-23, and the IL23R gene, which encodes a subunit of the receptor for IL-23, were identified as psoriasis-susceptibility genetic factors in recent candidate gene and genome-wide association studies of Chinese and Europeans. Since there are significant differences in the incidence of psoriasis between Europeans and Japanese suggesting a genetic ethnic effect, we examined the association of IL12B and IL23R gene polymorphisms with psoriasis in a cohort of Japanese. In this study, we genotyped two SNPs (rs3212227 and rs6887695) in the IL12B gene and one SNP (rs11209026) in the IL23R gene using 560 Japanese psoriasis cases and 560 controls and compared our results with those previously published for Europeans and Asians. Our study showed significant associations between psoriasis and both IL12B gene SNPs, rs3212227 (odds ratio (OR) = 1.35, P = 4.94E-04) and rs6887695 (OR = 1.32, P = 2.00E-03), but no significant association between psoriasis and the IL23R SNP, rs11209026. Furthermore, a significant haplotype association was found for the IL12B gene protective haplotype C-C (OR = 0.71, P = 1.84E-04) in Japanese, as previously elucidated in the studies of European ancestry.
银屑病是一种常见的人类皮肤疾病，据信其发病机制中炎症介质的异常产生起着重要作用。IL12B 基因编码两种细胞因子（IL-12 和 IL-23）的共同 IL-12p40 亚基，IL23R 基因编码 IL-23 受体的一个亚基，在最近对中国和欧洲人的候选基因和全基因组关联研究中被确定为银屑病易感遗传因素。由于银屑病在欧洲人和日本人中的发病率存在显著差异，表明存在遗传种族效应，因此我们在日本的队列中研究了 IL12B 和 IL23R 基因多态性与银屑病的关联。在这项研究中，我们使用 560 例日本银屑病患者和 560 例对照者对 IL12B 基因中的两个 SNP（rs3212227 和 rs6887695）和 IL23R 基因中的一个 SNP（rs11209026）进行了基因分型，并将我们的结果与以前发表的欧洲人和亚洲人的结果进行了比较。我们的研究表明，IL12B 基因的两个 SNP（rs3212227，OR=1.35，P=4.94E-04 和 rs6887695，OR=1.32，P=2.00E-03）与银屑病显著相关，但 IL23R SNP（rs11209026）与银屑病无关。此外，在日本人群中发现了与 IL12B 基因保护性单倍型 C-C（OR=0.71，P=1.84E-04）相关的显著单倍型关联，这与以前在欧洲血统人群的研究中阐明的结果一致。
