通过匹配银屑病中eQTL和GWAS的特征检测到的五个调控基因。
Five regulatory genes detected by matching signatures of eQTL and GWAS in psoriasis.
作者信息
Yin Xianyong, Cheng Hui, Lin Yan, Fan Xing, Cui Yong, Zhou Fusheng, Shen Changbing, Zuo Xianbo, Zheng Xiaodong, Zhang Weijia, Yang Sen, Zhang Xuejun
机构信息
Institute of Dermatology, Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui Province 230032, China; Key Lab of Dermatology, Ministry of Education, State Key Lab of Dermatology Incubation Center, Anhui Medical University, Hefei, Anhui Province 230032, China; Key Lab of Gene Resource Utilization for Complex Diseases, Hefei, Anhui Province 230032, China; Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui Province 230032, China.
Institute of Dermatology, Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui Province 230032, China; Key Lab of Dermatology, Ministry of Education, State Key Lab of Dermatology Incubation Center, Anhui Medical University, Hefei, Anhui Province 230032, China; Key Lab of Gene Resource Utilization for Complex Diseases, Hefei, Anhui Province 230032, China; Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui Province 230032, China.
出版信息
J Dermatol Sci. 2014 Nov;76(2):139-42. doi: 10.1016/j.jdermsci.2014.07.007. Epub 2014 Aug 13.
BACKGROUND
Psoriasis is a common immune-mediated inflammatory skin disease with strong genetic dispositions. Although more than 40 susceptibility loci have been revealed mostly through psoriasis genome wide association studies, genetic variants with small effect remain to be identified.
OBJECTIVE
In order to explore the susceptibility genes with potential regulatory function, we queried jointly two psoriasis genome wide association cohorts and an expression dataset.
METHODS
We integrated conventional genome-wide association evidences in 2326 Han Chinese and 2719 Caucasian populations, and the signature of expression quantitative trait loci (eQTL) in lymphoblastoid B cells, with application of Bayesian algorithm.
RESULTS
Five genes with implied regulatory effect were revealed to be associated significantly with the risk of psoriasis, with one novel signal in FAM20B gene which is significantly expressed (P=3.24×10(-5)). Besides, seven single nucleotide polymorphisms were identified to be involved in the mechanism of psoriasis through eQTL effect.
CONCLUSIONS
We identified FAM20B as a risk regulatory gene in the etiology of psoriasis at first time. This study shed a spotlight on the immune regulatory mechanism in psoriasis.
背景
银屑病是一种常见的免疫介导性炎症性皮肤病，具有很强的遗传倾向。尽管通过银屑病全基因组关联研究已揭示了40多个易感基因座，但仍有待鉴定具有微小效应的遗传变异。
目的
为了探索具有潜在调控功能的易感基因，我们联合查询了两个银屑病全基因组关联队列和一个表达数据集。
方法
我们整合了2326名汉族人和2719名白种人群中的传统全基因组关联证据，以及淋巴母细胞样B细胞中的表达数量性状基因座（eQTL）特征，并应用了贝叶斯算法。
结果
发现5个具有潜在调控作用的基因与银屑病风险显著相关，其中FAM20B基因中有一个新的信号显著表达（P=3.24×10⁻⁵）。此外，通过eQTL效应鉴定出7个单核苷酸多态性参与银屑病的发病机制。
结论
我们首次将FAM20B鉴定为银屑病病因中的一个风险调控基因。本研究为银屑病的免疫调控机制提供了新的线索。
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