Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder.

• Tác giả: Ryuya Edahiro, Koichi Fukunaga, Akiko Hosokawa, Seiya Imoto, Noriko Isobe, Izumi Kawachi, Akinori Kimura, Makoto Kinoshita, Jun-Ichi Kira, Ryuji Koike, Atsushi Kumanogoh, Yuichi Maeda, Koichi Matsuda, Takuya Matsushita, Masahito Mihara, Katsuichi Miyamoto, Satoru Miyano, Hideki Mochizuki, Tatsuhiko Naito, Kimiko Nakajima, Tomoko Nakanishi, Yuji Nakatsuji, Shingo Nakayamada, Shinichi Namba, Ho NamKoong, Takuro Nii, Masaaki Niino, Chikako Nishigori, Rika Nishikawa, Kotaro Ogawa, Seishi Ogawa, Eri Oguro-Igashira, Yukinori Okada, Tatsusada Okuno, Ryunosuke Saiki, Shigetoshi Sano, Go Sato, Yuko Shimizu, Yuya Shirai, Kyuto Sonehara, Hiroaki Tanaka, Yoshiya Tanaka, Mitsuru Watanabe, Kenichi Yamamoto, Mamoru Yamamoto, Yuji Yamamoto, Tomohiro Yata
• Ngôn ngữ: eng
• Ký hiệu phân loại: 272.3 Persecutions of Waldenses and Albigenses
• Thông tin xuất bản: United States : Cell genomics , 2025
• Bộ sưu tập: NCBI
• ID: 552203

Tóm tắt

 Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease characterized by optic neuritis and transverse myelitis, with an unclear genetic background. A genome-wide meta-analysis of NMOSD in Japanese individuals (240 patients and 50,578 controls) identified significant associations with the major histocompatibility complex region and a common variant close to CCR6 (rs12193698
  p = 1.8 × 10