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PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population

Objective Systemic sclerosis (SSc) is an autoimmune disease for which multiple susceptibility genes have been reported. Genome‐wide association studies have shown that large numbers of susceptibility genes are shared among autoimmune diseases. Recently, our group identified 9 novel susceptibility ge...

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Published in:Arthritis & rheumatology (Hoboken, N.J.) N.J.), 2013-02, Vol.65 (2), p.472-480
Main Authors: Terao, Chikashi, Ohmura, Koichiro, Kawaguchi, Yasushi, Nishimoto, Tetsuya, Kawasaki, Aya, Takehara, Kazuhiko, Furukawa, Hiroshi, Kochi, Yuta, Ota, Yuko, Ikari, Katsunori, Sato, Shinichi, Tohma, Shigeto, Yamada, Ryo, Yamamoto, Kazuhiko, Kubo, Michiaki, Yamanaka, Hisashi, Kuwana, Masataka, Tsuchiya, Naoyuki, Matsuda, Fumihiko, Mimori, Tsuneyo
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cited_by cdi_FETCH-LOGICAL-c4527-89d3c6ff30a16a3de1d6835c8940fcb7044f2ae00ecfd11d0bd8183e899979893
cites cdi_FETCH-LOGICAL-c4527-89d3c6ff30a16a3de1d6835c8940fcb7044f2ae00ecfd11d0bd8183e899979893
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container_title Arthritis & rheumatology (Hoboken, N.J.)
container_volume 65
creator Terao, Chikashi
Ohmura, Koichiro
Kawaguchi, Yasushi
Nishimoto, Tetsuya
Kawasaki, Aya
Takehara, Kazuhiko
Furukawa, Hiroshi
Kochi, Yuta
Ota, Yuko
Ikari, Katsunori
Sato, Shinichi
Tohma, Shigeto
Yamada, Ryo
Yamamoto, Kazuhiko
Kubo, Michiaki
Yamanaka, Hisashi
Kuwana, Masataka
Tsuchiya, Naoyuki
Matsuda, Fumihiko
Mimori, Tsuneyo
description Objective Systemic sclerosis (SSc) is an autoimmune disease for which multiple susceptibility genes have been reported. Genome‐wide association studies have shown that large numbers of susceptibility genes are shared among autoimmune diseases. Recently, our group identified 9 novel susceptibility genes associated with rheumatoid arthritis (RA) in a Japanese population. The aim of this study was to elucidate whether the 18 genes that displayed associations or suggestive associations for RA in our previous study are associated with SSc in Japanese. Methods We performed an association study that included 415 patients with SSc and 16,891 control subjects, followed by a replication study that included 315 patients and 21,054 control subjects. The 18 markers reported to display association with RA were analyzed for their associations with SSc in the first study, and 5 markers were further analyzed in the replication study. The inverse variance method was used to evaluate the associations of these markers with SSc in a combined study. Results In the phospholipase D4 gene (PLD4), rs2841277 displayed a significant association with SSc in Japanese patients (P = 0.00017). We observed that rs2841280 in exon 2 of PLD4 was in strong linkage disequilibrium with rs2841277 and introduced an amino acid alteration. We also observed associations between SSc and rs6932056 in TNFAIP3 and rs2280381 in IRF8 (P = 0.0000095 and P = 0.0030, respectively), both of which displayed associations with SSc in a European population. Conclusion We determined that PLD4 is a novel susceptibility gene for SSc in Japanese, thus confirming the involvement of PLD4 in autoimmunity. Associations between SSc and TNFAIP3 or IRF8 were also detected in our Japanese population. SSc and RA appear to share relatively large proportions of their genetic backgrounds.
doi_str_mv 10.1002/art.37777
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Genome‐wide association studies have shown that large numbers of susceptibility genes are shared among autoimmune diseases. Recently, our group identified 9 novel susceptibility genes associated with rheumatoid arthritis (RA) in a Japanese population. The aim of this study was to elucidate whether the 18 genes that displayed associations or suggestive associations for RA in our previous study are associated with SSc in Japanese. Methods We performed an association study that included 415 patients with SSc and 16,891 control subjects, followed by a replication study that included 315 patients and 21,054 control subjects. The 18 markers reported to display association with RA were analyzed for their associations with SSc in the first study, and 5 markers were further analyzed in the replication study. The inverse variance method was used to evaluate the associations of these markers with SSc in a combined study. Results In the phospholipase D4 gene (PLD4), rs2841277 displayed a significant association with SSc in Japanese patients (P = 0.00017). We observed that rs2841280 in exon 2 of PLD4 was in strong linkage disequilibrium with rs2841277 and introduced an amino acid alteration. We also observed associations between SSc and rs6932056 in TNFAIP3 and rs2280381 in IRF8 (P = 0.0000095 and P = 0.0030, respectively), both of which displayed associations with SSc in a European population. Conclusion We determined that PLD4 is a novel susceptibility gene for SSc in Japanese, thus confirming the involvement of PLD4 in autoimmunity. Associations between SSc and TNFAIP3 or IRF8 were also detected in our Japanese population. SSc and RA appear to share relatively large proportions of their genetic backgrounds.</description><identifier>ISSN: 0004-3591</identifier><identifier>ISSN: 2326-5191</identifier><identifier>EISSN: 1529-0131</identifier><identifier>EISSN: 2326-5205</identifier><identifier>DOI: 10.1002/art.37777</identifier><identifier>PMID: 23124809</identifier><identifier>CODEN: ARHEAW</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Aged ; Amino acids ; Asian Continental Ancestry Group - genetics ; Autoimmune diseases ; Autoimmunity - genetics ; Autoimmunity - immunology ; DNA-Binding Proteins - genetics ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease - genetics ; Genetics ; Genotype ; Humans ; Interferon Regulatory Factors - genetics ; Intracellular Signaling Peptides and Proteins - genetics ; Japan ; Male ; Middle Aged ; Nuclear Proteins - genetics ; Phospholipase D - genetics ; Polymorphism, Single Nucleotide ; Population ; Scleroderma, Systemic - genetics ; Scleroderma, Systemic - immunology ; Tumor Necrosis Factor alpha-Induced Protein 3</subject><ispartof>Arthritis &amp; rheumatology (Hoboken, N.J.), 2013-02, Vol.65 (2), p.472-480</ispartof><rights>Copyright © 2013 by the American College of Rheumatology</rights><rights>Copyright © 2013 by the American College of Rheumatology.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4527-89d3c6ff30a16a3de1d6835c8940fcb7044f2ae00ecfd11d0bd8183e899979893</citedby><cites>FETCH-LOGICAL-c4527-89d3c6ff30a16a3de1d6835c8940fcb7044f2ae00ecfd11d0bd8183e899979893</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23124809$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Terao, Chikashi</creatorcontrib><creatorcontrib>Ohmura, Koichiro</creatorcontrib><creatorcontrib>Kawaguchi, Yasushi</creatorcontrib><creatorcontrib>Nishimoto, Tetsuya</creatorcontrib><creatorcontrib>Kawasaki, Aya</creatorcontrib><creatorcontrib>Takehara, Kazuhiko</creatorcontrib><creatorcontrib>Furukawa, Hiroshi</creatorcontrib><creatorcontrib>Kochi, Yuta</creatorcontrib><creatorcontrib>Ota, Yuko</creatorcontrib><creatorcontrib>Ikari, Katsunori</creatorcontrib><creatorcontrib>Sato, Shinichi</creatorcontrib><creatorcontrib>Tohma, Shigeto</creatorcontrib><creatorcontrib>Yamada, Ryo</creatorcontrib><creatorcontrib>Yamamoto, Kazuhiko</creatorcontrib><creatorcontrib>Kubo, Michiaki</creatorcontrib><creatorcontrib>Yamanaka, Hisashi</creatorcontrib><creatorcontrib>Kuwana, Masataka</creatorcontrib><creatorcontrib>Tsuchiya, Naoyuki</creatorcontrib><creatorcontrib>Matsuda, Fumihiko</creatorcontrib><creatorcontrib>Mimori, Tsuneyo</creatorcontrib><title>PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population</title><title>Arthritis &amp; rheumatology (Hoboken, N.J.)</title><addtitle>Arthritis Rheum</addtitle><description>Objective Systemic sclerosis (SSc) is an autoimmune disease for which multiple susceptibility genes have been reported. Genome‐wide association studies have shown that large numbers of susceptibility genes are shared among autoimmune diseases. Recently, our group identified 9 novel susceptibility genes associated with rheumatoid arthritis (RA) in a Japanese population. The aim of this study was to elucidate whether the 18 genes that displayed associations or suggestive associations for RA in our previous study are associated with SSc in Japanese. Methods We performed an association study that included 415 patients with SSc and 16,891 control subjects, followed by a replication study that included 315 patients and 21,054 control subjects. The 18 markers reported to display association with RA were analyzed for their associations with SSc in the first study, and 5 markers were further analyzed in the replication study. The inverse variance method was used to evaluate the associations of these markers with SSc in a combined study. Results In the phospholipase D4 gene (PLD4), rs2841277 displayed a significant association with SSc in Japanese patients (P = 0.00017). We observed that rs2841280 in exon 2 of PLD4 was in strong linkage disequilibrium with rs2841277 and introduced an amino acid alteration. We also observed associations between SSc and rs6932056 in TNFAIP3 and rs2280381 in IRF8 (P = 0.0000095 and P = 0.0030, respectively), both of which displayed associations with SSc in a European population. Conclusion We determined that PLD4 is a novel susceptibility gene for SSc in Japanese, thus confirming the involvement of PLD4 in autoimmunity. Associations between SSc and TNFAIP3 or IRF8 were also detected in our Japanese population. 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rheumatology (Hoboken, N.J.)</jtitle><addtitle>Arthritis Rheum</addtitle><date>2013-02</date><risdate>2013</risdate><volume>65</volume><issue>2</issue><spage>472</spage><epage>480</epage><pages>472-480</pages><issn>0004-3591</issn><issn>2326-5191</issn><eissn>1529-0131</eissn><eissn>2326-5205</eissn><coden>ARHEAW</coden><abstract>Objective Systemic sclerosis (SSc) is an autoimmune disease for which multiple susceptibility genes have been reported. Genome‐wide association studies have shown that large numbers of susceptibility genes are shared among autoimmune diseases. Recently, our group identified 9 novel susceptibility genes associated with rheumatoid arthritis (RA) in a Japanese population. The aim of this study was to elucidate whether the 18 genes that displayed associations or suggestive associations for RA in our previous study are associated with SSc in Japanese. Methods We performed an association study that included 415 patients with SSc and 16,891 control subjects, followed by a replication study that included 315 patients and 21,054 control subjects. The 18 markers reported to display association with RA were analyzed for their associations with SSc in the first study, and 5 markers were further analyzed in the replication study. The inverse variance method was used to evaluate the associations of these markers with SSc in a combined study. Results In the phospholipase D4 gene (PLD4), rs2841277 displayed a significant association with SSc in Japanese patients (P = 0.00017). We observed that rs2841280 in exon 2 of PLD4 was in strong linkage disequilibrium with rs2841277 and introduced an amino acid alteration. We also observed associations between SSc and rs6932056 in TNFAIP3 and rs2280381 in IRF8 (P = 0.0000095 and P = 0.0030, respectively), both of which displayed associations with SSc in a European population. Conclusion We determined that PLD4 is a novel susceptibility gene for SSc in Japanese, thus confirming the involvement of PLD4 in autoimmunity. Associations between SSc and TNFAIP3 or IRF8 were also detected in our Japanese population. SSc and RA appear to share relatively large proportions of their genetic backgrounds.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>23124809</pmid><doi>10.1002/art.37777</doi><tpages>9</tpages></addata></record>
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ispartof Arthritis & rheumatology (Hoboken, N.J.), 2013-02, Vol.65 (2), p.472-480
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subjects Adult
Aged
Amino acids
Asian Continental Ancestry Group - genetics
Autoimmune diseases
Autoimmunity - genetics
Autoimmunity - immunology
DNA-Binding Proteins - genetics
Female
Genetic Association Studies
Genetic Predisposition to Disease - genetics
Genetics
Genotype
Humans
Interferon Regulatory Factors - genetics
Intracellular Signaling Peptides and Proteins - genetics
Japan
Male
Middle Aged
Nuclear Proteins - genetics
Phospholipase D - genetics
Polymorphism, Single Nucleotide
Population
Scleroderma, Systemic - genetics
Scleroderma, Systemic - immunology
Tumor Necrosis Factor alpha-Induced Protein 3
title PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population
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