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A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases

Title
A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases
Author
배상철
Keywords
SYSTEMIC-LUPUS-ERYTHEMATOSUS; NADPH OXIDASE ACTIVATION; GENOME-WIDE ASSOCIATION; PHOX HOMOLOGY DOMAIN; DELETION; INDIVIDUALS; SIGNATURE; 7Q11.23; CHINESE
Issue Date
2017-03
Publisher
NATURE PUBLISHING GROUP
Citation
NATURE GENETICS, v. 49, no. 3, page. 433-437
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.
URI
https://www.nature.com/articles/ng.3782https://repository.hanyang.ac.kr/handle/20.500.11754/113383
ISSN
1061-4036; 1546-1718
DOI
10.1038/ng.3782
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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