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Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, Seungbok | - |
dc.contributor.author | Paik, Seung Hwan | - |
dc.contributor.author | Kim, Hyun-Jin | - |
dc.contributor.author | Ryu, Hyeong Ho | - |
dc.contributor.author | Cha, Soeun | - |
dc.contributor.author | Jo, Seong Jin | - |
dc.contributor.author | Eun, Hee Chul | - |
dc.contributor.author | Seo, Jeong-Sun | - |
dc.contributor.author | Kim, Jong-Il | - |
dc.contributor.author | Kwon, Oh Sang | - |
dc.creator | 권오상 | - |
dc.date.accessioned | 2013-09-23T04:31:21Z | - |
dc.date.available | 2013-09-23T04:31:21Z | - |
dc.date.issued | 2013-01 | - |
dc.identifier.citation | PLoS One Vol.8 No.1, p. e53613 | - |
dc.identifier.issn | 1932-6203 | - |
dc.identifier.uri | https://hdl.handle.net/10371/83443 | - |
dc.description.abstract | 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. | en |
dc.description.sponsorship | This study was partly supported by a grant from the Korea Healthcare Technology R&D Project, Ministry for Health, Welfare & Family Affairs, Republic of
Korea (Green Cosmetic Research Center, A092055) and conducted under a research agreement with AmorePacific Corporation, Republic of Korea. This work was partly supported by the National Research Foundation of Korea [NRF] grant funded by the Korea government [MESF] [No. 2011-0030738]. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. | - |
dc.language.iso | en | en |
dc.publisher | PUBLIC LIBRARY OF SCIENCE | en |
dc.subject | 자연과학 | en |
dc.title | Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis | en |
dc.type | Article | - |
dc.author.alternative | 이승복 | - |
dc.author.alternative | 백승환 | - |
dc.author.alternative | 류형호 | - |
dc.author.alternative | 차소은 | - |
dc.author.alternative | 조성진 | - |
dc.author.alternative | 은희철 | - |
dc.author.alternative | 서정선 | - |
dc.author.alternative | 김종일 | - |
dc.author.alternative | 권오상 | - |
dc.identifier.doi | 10.1371/journal.pone.0053613 | - |
dc.citation.journaltitle | PLoS One | - |
dc.description.srnd | OAIID:oai:osos.snu.ac.kr:snu2013-01/102/0000045457/1 | - |
dc.description.srnd | SEQ:1 | - |
dc.description.srnd | PERF_CD:SNU2013-01 | - |
dc.description.srnd | EVAL_ITEM_CD:102 | - |
dc.description.srnd | USER_ID:0000045457 | - |
dc.description.srnd | ADJUST_YN:N | - |
dc.description.srnd | EMP_ID:A079130 | - |
dc.description.srnd | DEPT_CD:801 | - |
dc.description.srnd | CITE_RATE:4.092 | - |
dc.description.srnd | FILENAME:lee s, et al plos one 2013.pdf | - |
dc.description.srnd | DEPT_NM:의학과 | - |
dc.description.srnd | EMAIL:oskwon@snu.ac.kr | - |
dc.description.srnd | SCOPUS_YN:N | - |
dc.description.srnd | CONFIRM:Y | - |
dc.identifier.srnd | 2013-01/102/0000045457/1 | - |
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