Article
Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.
Nature communications - 5 Jul 2023
Deng Zhili, Chen Mengting, Zhao Zhixiang, Xiao Wenqin, Liu Tangxiele, Peng Qinqin, Wu Zheng, Xu San, Shi Wei, Jian Dan, Wang Ben, Liu Fangfen, Tang Yan, Huang Yingxue, Zhang Yiya, Wang Qian, Sun Lunquan, Xie Hongfu, Zhang Guohong, Li Ji
Abstract excerpt
Rosacea is a chronic inflammatory skin disorder with high incidence rate. Although genetic predisposition to rosacea is suggested by existing evidence, the genetic basis remains largely unknown. Here we present the integrated results of whole genome sequencing (WGS) in 3 large rosacea families and whole exome sequencing (WES) in 49 additional validation families. We identify single rare deleterious variants of...
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