Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.

Autor: Seungbok Lee, Seung Hwan Paik, Hyun-Jin Kim, Hyeong Ho Ryu, Soeun Cha, Seong Jin Jo, Hee Chul Eun, Jeong-Sun Seo, Jong-Il Kim, Oh Sang Kwon
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Zdroj: PLoS ONE, Vol 8, Iss 1, p e53613 (2013)
Druh dokumentu: article
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0053613
Popis: Alopecia areata (AA) is a common autoimmune disorder mostly presented as round patches of hair loss and subclassified into alopecia totalis/alopecia universalis (AT/AU) based on the area of alopecia. Although AA is relatively common, only 5% of AA patients progress to AT/AU, which affect the whole scalp and whole body respectively. To determine genetic determinants of this orphan disease, we undertook whole-exome sequencing of 6 samples from AU patients, and 26 variants in immune-related genes were selected as candidates. When an additional 14 AU samples were genotyped for these candidates, 6 of them remained at the level of significance in comparison with 155 Asian controls (p
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