Yin Xianyong, Lin Yuan, Shen Changbing, Wang Ling, Zuo Xianbo, Zheng Xiaodong, Yang Sen, Liu Jianjun, Wilhelmsen Kirk C, Zhang Xuejun
Institute of Dermatology and Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Anhui, China.
Key Laboratory of Dermatology, Ministry of Education (Anhui Medical University), Anhui, China.
J Gene Med. 2017 Jan;19(1-2). doi: 10.1002/jgm.2939.
Psoriasis is a common inflammatory skin disease, whereas schizophrenia is a psychiatric disorder with substantial comorbidity. Although these two disorders manifest with apparently unrelated phenotypes, there is some evidence suggesting that they share common genetic factors.
We implemented a genetic analysis incorporating pleiotropy and annotation to genome-wide association summary statistics data for approximately 120 000 psoriasis and schizophrenia samples, as well as whole blood expression quantitative trait loci in 5311 samples.
We observed a significant pleiotropic effect between psoriasis and schizophrenia (p = 5.92 × 10 ). We characterized an enrichment of whole blood expression quantitative trait loci in genome-wide association data for psoriasis and schizophrenia (q /q > 1.5, p < 10 ) and we revealed that common variants for both diseases were more likely to confer expression quantitative trait loci effects (q /q = 4.197, SE = 0.183). Through joint analysis of the associations in the combined psoriasis and schizophrenia data set, we identified a potential susceptibility PTPN1 gene for psoriasis, which may affect the risk of psoriasis through modulation of the function of TYK2 kinase.
The results of the present study highlight the expression quantitative trait loci enrichment and pleiotropy in psoriasis and schizophrenia, and also suggest a possible key role of the PTPN1 gene in the etiology of psoriasis.
银屑病是一种常见的炎症性皮肤病，而精神分裂症是一种有大量共病情况的精神障碍。尽管这两种疾病表现出明显不相关的表型，但有一些证据表明它们共享共同的遗传因素。
我们对约120000例银屑病和精神分裂症样本的全基因组关联汇总统计数据以及5311例样本的全血表达数量性状基因座进行了纳入多效性和注释的遗传分析。
我们观察到银屑病和精神分裂症之间存在显著的多效性效应（p = 5.92×10 ）。我们在银屑病和精神分裂症的全基因组关联数据中表征了全血表达数量性状基因座的富集情况（q /q > 1.5，p < 10 ），并且我们揭示两种疾病的常见变异更有可能赋予表达数量性状基因座效应（q /q = 4.197，标准误 = 0.183）。通过对合并的银屑病和精神分裂症数据集中的关联进行联合分析，我们确定了一个潜在的银屑病易感性PTPN1基因，它可能通过调节TYK2激酶的功能来影响银屑病的风险。
本研究结果突出了银屑病和精神分裂症中表达数量性状基因座的富集和多效性，也表明PTPN1基因在银屑病病因学中可能起关键作用。
