A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases
DC Field | Value | Language |
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dc.contributor.author | Zhao, Jian | - |
dc.contributor.author | Ma, Jianyang | - |
dc.contributor.author | Deng, Yun | - |
dc.contributor.author | Kelly, Jennifer A. | - |
dc.contributor.author | Kim, Kwangwoo | - |
dc.contributor.author | Bang, So-Young | - |
dc.contributor.author | Lee, Hye-Soon | - |
dc.contributor.author | Li, Quan-Zhen | - |
dc.contributor.author | Wakeland, Edward K. | - |
dc.contributor.author | Qiu, Rong | - |
dc.contributor.author | Liu, Mengru | - |
dc.contributor.author | Guo, Jianping | - |
dc.contributor.author | Li, Zhanguo | - |
dc.contributor.author | Tan, Wenfeng | - |
dc.contributor.author | Rasmussen, Astrid | - |
dc.contributor.author | Lessard, Christopher J. | - |
dc.contributor.author | Sivils, Kathy L. | - |
dc.contributor.author | Hahn, Bevra H. | - |
dc.contributor.author | Grossman, Jennifer M. | - |
dc.contributor.author | Kamen, Diane L. | - |
dc.contributor.author | Gilkeson, Gary S. | - |
dc.contributor.author | Bae, Sang-Cheol | - |
dc.contributor.author | Gaffney, Patrick M. | - |
dc.contributor.author | Shen, Nan | - |
dc.contributor.author | Tsao, Betty P. | - |
dc.date.accessioned | 2021-07-30T05:19:48Z | - |
dc.date.available | 2021-07-30T05:19:48Z | - |
dc.date.created | 2021-05-11 | - |
dc.date.issued | 2017-03 | - |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/4276 | - |
dc.description.abstract | Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a strong genetic component characterized by autoantibody production and a type 1 interferon signatures. Here we report a missense variant (g.74779296G>A; p.Arg90His) in NCF1, encoding the p47phox subunit of the phagocyte NADPH oxidase (NOX2), as the putative underlying causal variant that drives a strong SLE-associated signal detected by the lmmunochip in the GTF2IRD1-GTF2I region at 7q11.23 with a complex genomic structure. We show that the p.Arg90His substitution, which is reported to cause reduced reactive oxygen species (ROS) production(2), predisposes to SLE (odds ratio (OR) = 3.47 in Asians (P-meta = 3.1 x 10(-104)), OR = 2.61 in European Americans, OR = 2.02 in African Americans) and other autoimmune diseases, including primary Sjogren's syndrome (OR = 2.45 in Chinese, OR = 2.35 in European Americans) and rheumatoid arthritis (OR = 1.65 in Koreans). Additionally, decreased and increased copy numbers of NCF1 predispose to and protect against SLE, respectively. Our data highlight the pathogenic role of reduced NOX2-derived ROS levels in autoimmune diseases. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | NATURE PUBLISHING GROUP | - |
dc.title | A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Bang, So-Young | - |
dc.contributor.affiliatedAuthor | Lee, Hye-Soon | - |
dc.contributor.affiliatedAuthor | Bae, Sang-Cheol | - |
dc.identifier.doi | 10.1038/ng.3782 | - |
dc.identifier.scopusid | 2-s2.0-85010957414 | - |
dc.identifier.wosid | 000394917800017 | - |
dc.identifier.bibliographicCitation | NATURE GENETICS, v.49, no.3, pp.433 - 437 | - |
dc.relation.isPartOf | NATURE GENETICS | - |
dc.citation.title | NATURE GENETICS | - |
dc.citation.volume | 49 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 433 | - |
dc.citation.endPage | 437 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.subject.keywordPlus | SYSTEMIC-LUPUS-ERYTHEMATOSUS | - |
dc.subject.keywordPlus | NADPH OXIDASE ACTIVATION | - |
dc.subject.keywordPlus | GENOME-WIDE ASSOCIATION | - |
dc.subject.keywordPlus | PHOX HOMOLOGY DOMAIN | - |
dc.subject.keywordPlus | DELETION | - |
dc.subject.keywordPlus | INDIVIDUALS | - |
dc.subject.keywordPlus | SIGNATURE | - |
dc.subject.keywordPlus | 7Q11.23 | - |
dc.subject.keywordPlus | CHINESE | - |
dc.identifier.url | https://www.nature.com/articles/ng.3782 | - |
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