鉴定出 PTPN22、ST6GAL1 和 JAZF1 是银屑病风险基因，表明银屑病和糖尿病之间存在共同的发病机制。

Identification of PTPN22, ST6GAL1 and JAZF1 as psoriasis risk genes demonstrates shared pathogenesis between psoriasis and diabetes.

机构信息

Department of Dermatology, Shandong Provincial Hospital for Skin Disease, Shandong University, Jinan, Shandong, China.

Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China.

出版信息

Exp Dermatol. 2017 Nov;26(11):1112-1117. doi: 10.1111/exd.13393. Epub 2017 Aug 25.

DOI:10.1111/exd.13393

PMID:28603863

Abstract

The biological connections between psoriasis and diabetes have been suggested by epidemiological, immunological and genetic studies. To identify additional shared susceptibility loci and investigate shared pathogenesis between these two diseases, we genotyped 89 reported diabetes susceptibility loci in 4456 psoriasis cases and 6027 controls of Chinese population using the MassARRAY system from Sequenom. We discovered three significant associations at rs6679677 on 1p13.2 (P=6.15×10 , OR=5.07), rs16861329 on 3q27.3 (P=2.02×10 , OR=0.87) and rs849135 on 7p15.1 (P=6.59×10 , OR=1.78), which suggested PTPN22, ST6GAL1 and JAZF1 as novel susceptibility genes for psoriasis in Chinese population. Our findings implicated the involvement of T-cell receptor signalling pathway in the pathogenesis of psoriasis and further confirmed the shared genetic susceptibility between psoriasis and diabetes.

摘要

银屑病和糖尿病之间的生物学联系已被流行病学、免疫学和遗传学研究提示。为了鉴定这两种疾病之间的其他共同易感基因座，并研究其共同发病机制，我们使用 Sequenom 的 MassARRAY 系统，对来自中国人群的 4456 例银屑病病例和 6027 例对照者中的 89 个已报道的糖尿病易感性基因座进行了基因分型。我们在 1p13.2 上的 rs6679677（P=6.15×10 ，OR=5.07）、3q27.3 上的 rs16861329（P=2.02×10 ，OR=0.87）和 7p15.1 上的 rs849135（P=6.59×10 ，OR=1.78）处发现了三个显著关联，提示 PTPN22、ST6GAL1 和 JAZF1 是中国人群银屑病的新易感基因。我们的研究结果表明 T 细胞受体信号通路参与了银屑病的发病机制，并进一步证实了银屑病和糖尿病之间存在共同的遗传易感性。