重型痤疮危害显著，遗传度高，但其易感基因尚未明确，早期诊断及有效治疗仍是临床难点问题。本团队前期通过遗传模式及候选基因的研究发现重型痤疮与遗传关系密切；建立了中国汉族重型痤疮遗传资源库，并开展了中国汉族重型痤疮大样本的GWAS研究，发现3个显著相关的SNP位点，分别位于染色体的1q24.2 及 11p11.2区。本课题充分发挥前期研究基础及样本资源优势，针对重型痤疮的这两个易感区域，综合重组峰、连锁不平衡区域、高度连锁位点及报道的基因功能等信息，筛选出重型痤疮可能的7个易感基因。重点通过二代测序，检测7个基因的外显子区及启动子区，并在独立样本中验证测序发现的显著位点，精细定位重型痤疮风险基因及其功能性遗传变异，并探讨变异位点的生物学功能及在重型痤疮中可能发挥的作用。本研究可丰富重型痤疮的遗传易感研究，对深入认识疾病发生发展的分子机制有重要意义，也为疾病早期诊断试剂的研发及治疗靶点提供依据。

Severe acne brings significant harm on patients and shows high heritability. But susceptibility genes of severe acne and its functions haven't been fully understood, which impedes early diagnosis and effective treatment of severe acne. We carried out researches on acne genetic model and relationship between chandidate genes and acne. It suggested that genetic factor palys important role on severe acne. we also established severe acne genetic resources base in China. Our previous works identified two new susceptibility genes confer risk to severe acne by a genome-wide associated study in Chinese Han population.We identified 3 SNPs in two new susceptibility loci at 1q24.2 and 11p11.2. Based on our earlier research foundation and sample resource advantage, We select 7 chadidate susceptibility genes of severe acne. Here, we will fine mapping susceptibility genes and its genetic varies in patient and controls by sequencing exon and promoter area of 7 genes, and carry out a replication stage in independent samples. We will demonstrate functions of those genetic varies of susceptibility genes in severe acne. These works will provide an important evidence for the pathogenesis of severe acne, as well as the research and development of early diagnostic reagents for the disease.