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引用次数: 14
摘要
牛皮癣是一种复杂的免疫介导的皮肤和关节疾病,患病率约为2%。先前的遗传关联研究已经确定了60多个牛皮癣易感位点,其中47个在白种人中被确定。为了进一步了解这种疾病的遗传结构,我们对银屑病的全基因组关联研究(GWAS)进行了迄今为止最大规模的荟萃分析,包括来自8个不同高加索人群的数据(7个GWAS和1个免疫芯片数据集),总有效样本量超过39,000人。47个欧洲起源基因座中约有一半(n = 22)在使用免疫芯片进行基因分型的大比例(≥50%)样本的队列中被鉴定出来(Bowes等,2015;Stuart et al., 2015;Tsoi等人,2012a, 2015),该平台专注于从先前自身免疫性疾病关联研究中发现的有希望的信号中发现的遗传变异(Stuart等人,2015)。然而,将分析限制在免疫芯片上基因分型(~ 110,000)(Tsoi等人,2012b)或良好输入(~ 700,000)(Tsoi等人,2015)的标记物上,限制了对全基因组易感位点的探索。
期刊介绍:
Journal of Investigative Dermatology Symposium Proceedings (JIDSP) publishes peer-reviewed, invited papers relevant to all aspects of cutaneous biology and skin disease. Papers in the JIDSP are often initially presented at a scientific meeting. Potential topics include biochemistry, biophysics, carcinogenesis, cellular growth and regulation, clinical research, development, epidemiology and other population-based research, extracellular matrix, genetics, immunology, melanocyte biology, microbiology, molecular and cell biology, pathology, pharmacology and percutaneous absorption, photobiology, physiology, and skin structure.