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

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 s...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/bc06a4caf3a14fd08fbe851d72f20771
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spelling	oai:doaj.org-article:bc06a4caf3a14fd08fbe851d72f207712021-11-18T08:01:49ZExomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.1932-620310.1371/journal.pone.0053613https://doaj.org/article/bc06a4caf3a14fd08fbe851d72f207712013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23326468/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Alopecia 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<1.92×10(-3)). Linkage disequilibrium was observed between some of the most significant SNPs, including rs41559420 of HLA-DRB5 (p<0.001, OR 44.57) and rs28362679 of BTNL2 (p<0.001, OR 30.21). While BTNL2 was reported as a general susceptibility gene of AA previously, HLA-DRB5 has not been implicated in AA. In addition, we found several genetic variants in novel genes (HLA-DMB, TLR1, and PMS2) and discovered an additional locus on HLA-A, a known susceptibility gene of AA. This study provides further evidence for the association of previously reported genes with AA and novel findings such as HLA-DRB5, which might represent a hidden culprit gene for AU.Seungbok LeeSeung Hwan PaikHyun-Jin KimHyeong Ho RyuSoeun ChaSeong Jin JoHee Chul EunJeong-Sun SeoJong-Il KimOh Sang KwonPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 1, p e53613 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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 Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.
description	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<1.92×10(-3)). Linkage disequilibrium was observed between some of the most significant SNPs, including rs41559420 of HLA-DRB5 (p<0.001, OR 44.57) and rs28362679 of BTNL2 (p<0.001, OR 30.21). While BTNL2 was reported as a general susceptibility gene of AA previously, HLA-DRB5 has not been implicated in AA. In addition, we found several genetic variants in novel genes (HLA-DMB, TLR1, and PMS2) and discovered an additional locus on HLA-A, a known susceptibility gene of AA. This study provides further evidence for the association of previously reported genes with AA and novel findings such as HLA-DRB5, which might represent a hidden culprit gene for AU.
format	article
author	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
author_facet	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
author_sort	Seungbok Lee
title	Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.
title_short	Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.
title_full	Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.
title_fullStr	Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.
title_full_unstemmed	Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.
title_sort	exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/bc06a4caf3a14fd08fbe851d72f20771
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Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.

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