The genetic basis of pigmentation in alopecia areata
The genetic basis of pigmentation in alopecia areata
复制标题
斑秃色素沉着的遗传基础
DOI：
10.1111/exd.13217
复制
发表时间：
2017
影响因子：
3.6
通讯作者：
Ren Yunqing
中科院分区：
文献类型：
--
作者：
Zheng Min;Ren Yunqing
斑秃（AA）是一种常见的脱发疾病，其特征是离散的、界限清楚的非瘢痕性终末毛发脱发区域，计算的终生风险约为2%。在过去的几十年中，连锁和GWA研究已经涉及数十个与AA发展相关的易感基因/位点。Fischer等人在欧洲人群中对585名AA患者和1，340名对照进行了全基因组CNV分析。这是第一个在AA样本中进行的CNV全基因组研究，MCHR 2基因区域的相关发现进一步强调了色素沉着在AA发展中的潜在作用。
Alopecia areata (AA) is a common hair loss disorder characterized by discrete, well demarcated areas of non‐scarring terminal hair alopecia, with the calculated lifetime risk of ~2%. In past decades, linkage and GWA studies have implicated dozens of susceptibility genes/loci that are linked to the development of AA. Fischer et al performed a genome‐wide CNV analysis of 585 AA patients and 1,340 controls in a European population. This is the first genome‐wide study of CNV to be performed in AA samples, and the association finding in the MCHR2 gene region further underscores the potential role of pigmentation in AA development.