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DOI 10.1038/s41467-023-44541-z

Медицинская библиотека · Nature communications · 2024

GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region.

Ishikawa Yuki, Tanaka Nao, Asano Yoshihide, Kodera Masanari, Shirai Yuichiro, Akahoshi Mitsuteru, Hasegawa Minoru, Matsushita Takashi, Saito Kazuyoshi, Motegi Sei-Ichiro, Yoshifuji Hajime, Yoshizaki Ayumi, Kohmoto Tomohiro, Takagi Kae, Oka Akira, Kanda Miho, Tanaka Yoshihito, Ito Yumi, Nakano Kazuhisa, Kasamatsu Hiroshi, Utsunomiya Akira, Sekiguchi Akiko, Niiro Hiroaki, Jinnin Masatoshi, Makino Katsunari, Makino Takamitsu, Ihn Hironobu, Yamamoto Motohisa, Suzuki Chisako, Takahashi Hiroki, Nishida Emi, Morita Akimichi, Yamamoto Toshiyuki, Fujimoto Manabu, Kondo Yuya, Goto Daisuke, Sumida Takayuki, Ayuzawa Naho, Yanagida Hidetoshi, Horita Tetsuya, Atsumi Tatsuya, Endo Hirahito, Shima Yoshihito, Kumanogoh Atsushi, Hirata Jun, Otomo Nao, Suetsugu Hiroyuki, Koike Yoshinao, Tomizuka Kohei, Yoshino Soichiro, Liu Xiaoxi, Ito Shuji, Hikino Keiko, Suzuki Akari, Momozawa Yukihide, Ikegawa Shiro, Tanaka Yoshiya, Ishikawa Osamu, Takehara Kazuhiko, Torii Takeshi, Sato Shinichi, Okada Yukinori, Mimori Tsuneyo, Matsuda Fumihiko, Matsuda Koichi, Amariuta Tiffany, Imoto Issei, Matsuo Keitaro, Kuwana Masataka, Kawaguchi Yasushi, Ohmura Koichiro, Terao Chikashi

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Аннотация

Here we report the largest Asian genome-wide association study (GWAS) for systemic sclerosis performed to date, based on data from Japanese subjects and comprising of 1428 cases and 112,599 controls. The lead SNP is in the FCGR/FCRL region, which shows a penetrating association in the Asian population, while a complete linkage disequilibrium SNP, rs10917688, is found in a cis-regulatory element for IRF8. IRF8 is also a significant locus in European GWAS for systemic sclerosis, but rs10917688 only shows an association in the presence of the risk allele of IRF8 in the Japanese population. Further analysis shows that rs10917688 is marked with H3K4me1 in primary B cells. A meta-analysis with a European GWAS detects 30 additional significant loci. Polygenic risk scores constructed with the effect sizes of the meta-analysis suggest the potential portability of genetic associations beyond populations. Prioritizing the top 5% of SNPs of IRF8 binding sites in B cells improves the fitting of the polygenic risk scores, underscoring the roles of B cells and IRF8 in the development of systemic sclerosis. The results also suggest that systemic sclerosis shares a common genetic architecture across populations.

Для цитирования: Ishikawa Yuki, Tanaka Nao, Asano Yoshihide, Kodera Masanari, Shirai Yuichiro, Akahoshi Mitsuteru, Hasegawa Minoru, Matsushita Takashi, Saito Kazuyoshi, Motegi Sei-Ichiro, Yoshifuji Hajime, Yoshizaki Ayumi, Kohmoto Tomohiro, Takagi Kae, Oka Akira, Kanda Miho, Tanaka Yoshihito, Ito Yumi, Nakano Kazuhisa, Kasamatsu Hiroshi, Utsunomiya Akira, Sekiguchi Akiko, Niiro Hiroaki, Jinnin Masatoshi, Makino Katsunari, Makino Takamitsu, Ihn Hironobu, Yamamoto Motohisa, Suzuki Chisako, Takahashi Hiroki, Nishida Emi, Morita Akimichi, Yamamoto Toshiyuki, Fujimoto Manabu, Kondo Yuya, Goto Daisuke, Sumida Takayuki, Ayuzawa Naho, Yanagida Hidetoshi, Horita Tetsuya, Atsumi Tatsuya, Endo Hirahito, Shima Yoshihito, Kumanogoh Atsushi, Hirata Jun, Otomo Nao, Suetsugu Hiroyuki, Koike Yoshinao, Tomizuka Kohei, Yoshino Soichiro, Liu Xiaoxi, Ito Shuji, Hikino Keiko, Suzuki Akari, Momozawa Yukihide, Ikegawa Shiro, Tanaka Yoshiya, Ishikawa Osamu, Takehara Kazuhiko, Torii Takeshi, Sato Shinichi, Okada Yukinori, Mimori Tsuneyo, Matsuda Fumihiko, Matsuda Koichi, Amariuta Tiffany, Imoto Issei, Matsuo Keitaro, Kuwana Masataka, Kawaguchi Yasushi, Ohmura Koichiro, Terao Chikashi. GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region.. Nature communications. 2024. DOI: 10.1038/s41467-023-44541-z.

Предметные рубрики MeSH

HumansGenetic Predisposition to DiseaseGenome-Wide Association StudyReceptors, IgGGenetic Risk ScoreScleroderma, SystemicPolymorphism, Single NucleotideInterferon Regulatory FactorsGenetic Loci
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