Article
Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis.
Nature communications - 15 Feb 2021
Sakaue Saori, Yamaguchi Etsuro, Inoue Yoshikazu, Takahashi Meiko, Hirata Jun, Suzuki Ken, Ito Satoru, Arai Toru, Hirose Masaki, Tanino Yoshinori, Nikaido Takefumi, Ichiwata Toshio, Ohkouchi Shinya, Hirano Taizou, Takada Toshinori, Miyawaki Satoru, Dofuku Shogo, Maeda Yuichi, Nii Takuro, Kishikawa Toshihiro, Ogawa Kotaro, Masuda Tatsuo, Yamamoto Kenichi, Sonehara Kyuto, Tazawa Ryushi, Morimoto Konosuke, Takaki Masahiro, Konno Satoshi, Suzuki Masaru, Tomii Keisuke, Nakagawa Atsushi, Handa Tomohiro, Tanizawa Kiminobu, Ishii Haruyuki, Ishida Manabu, Kato Toshiyuki, Takeda Naoya, Yokomura Koshi, Matsui Takashi, Watanabe Masaki, Inoue Hiromasa, Imaizumi Kazuyoshi, Goto Yasuhiro, Kida Hiroshi, Fujisawa Tomoyuki, Suda Takafumi, Yamada Takashi, Satake Yasuomi, Ibata Hidenori, Hizawa Nobuyuki, Mochizuki Hideki, Kumanogoh Atsushi, Matsuda Fumihiko, Nakata Koh, Hirota Tomomitsu, Tamari Mayumi, Okada Yukinori
Abstract excerpt
Pulmonary alveolar proteinosis (PAP) is a devastating lung disease caused by abnormal surfactant homeostasis, with a prevalence of 6-7 cases per million population worldwide. While mutations causing hereditary PAP have been reported, the genetic basis contributing to autoimmune PAP (aPAP) has not been thoroughly investigated. Here, we conducted a genome-wide association study of aPAP in 198 patients and 395...
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