Медицинская библиотека · American journal of respiratory and critical care medicine · 2026

Idiopathic pulmonary fibrosis risk loci in East Asian populations mirror those of European populations.

Peljto Anna L, Furusawa Haruhiko, Puthenvedu Deepa, Lee Joyce S, Steele Mark P, Brancato Janna, Cardwell Jonathan, Blumhagen Rachel Z, de Andrade Joao, Bendstrup Elisabeth, Blackwell Timothy S, Bonella Francesco, Borie Raphael, Braybrooke Rebecca, Brown Kevin K, Carbone Roberto G, Christie Jason D, Costabel Ulrich, Crestani Bruno, Davidsen Jesper R, Dieude Philippe, Donnelly Seamas C, Egan Jim, Eickelberg Oliver, Fernández Pérez Evans R, Fiddler Christine A, Foster Elena E, Gibson Kevin F, Gudmundsson Gunnar, Guthridge Joel M, Henry Michael T, Hirani Nikhil, Jenkins R Gisli, Kass Daniel J, Keane Michael P, Kokturk Nurdan, Kropski Jonathan A, Lederer David, Leone Paolo M, Linderholm Angela L, Maher Toby M, Mathai Susan K, McCarthy Cormac, McElroy Aoife N, Mogulkoc Nesrin, Molina-Molina Maria, Molyneaux Philip L, Montesi Sydney B, Nathan Steven D, Noth Imre, Olaniyi Joshua A, Oldham Justin M, O'Reilly Katherine M A, Palmisciano Amy J, Pardo Annie, Parfrey Helen, Planas-Cerezales Lurdes, Poletti Venerino, Porteous Mary K, Puppo Francesco, Richeldi Luca, Rojas Mauricio, Salinas Mauricio, Schluger Neil, Selman Moises, Shea Barry S, Sterclova Martina, Solomon Joshua J, Tomassetti Sara, Vasakova Martina Koziar, Zhang Yingze, Corte Tamera J, Dickinson Joanne L, Glaspole Ian, Moodley Yuben P, Prele Cecilia M A, Ryerson Christopher J, Wolters Paul J, Jinno Megumi, Miyata Yoshito, Akagawa Shinobu, Narumoto Osamu, Kita Toshiyuki, Shibayama Takuo, Li Toshihiko, Owan Isoko, Wakamatsu Kentaro, Arai Toru, Hirose Masaki, Kim Dong Soon, Ohta Ken, Ohta Shin, Park Jong Sun, Park Moo Suk, Yang Ivana V, Fingerlin Tasha E, Miyazaki Yasunari, Okamoto Tsukasa, Inoue Yoshikazu, Song Jin Woo, Schwartz David A

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

RATIONALE: Common and rare variants that are associated with the risk of developing idiopathic pulmonary fibrosis (IPF) have been identified predominantly in European ancestry populations.

OBJECTIVES

To better understand the genetic variants that contribute to IPF in individuals with Asian ancestry, we conducted a genome-wide association study of IPF in East Asian populations.

METHODS

We included 1026 patients with IPF and compared them to 1723 unaffected controls of Japanese and Korean ancestry. Genome-wide association analysis was conducted in the Japanese and Korean ancestry cohorts separately and combined using meta-analysis. Restricted maximum likelihood was used to estimate the SNP-based heritability and local ancestry of chromosome 11 was inferred for each subject.

MEASUREMENTS AND MAIN

RESULTS

We identified loci on chromosomes 4 (FAM13A; rs7690839), 5 (TERT; rs7734992), 6 (DSP; rs2076295), and 11 (MUC5B; rs35705950) that were significantly associated with risk of IPF. Importantly, the sentinel variants in each of these loci are the same as, or in strong linkage disequilibrium with, the risk variants that have been observed in studies of European ancestry populations. In aggregate, common variants (not including the MUC5B promoter variant) account for approximately 25% of the risk of developing IPF in these East Asian ancestry cohorts. Moreover, local ancestry analysis indicates that the presence of MUC5B promoter variant in the East Asian population is not a result of admixture with European ancestry populations.

CONCLUSIONS

We conclude that the IPF risk loci in East Asian populations are shared with those of European ancestry populations, although their risk allele frequencies and effect sizes differ. These findings indicate shared genetic risk factors of IPF across ancestries.

Для цитирования: Peljto Anna L, Furusawa Haruhiko, Puthenvedu Deepa, Lee Joyce S, Steele Mark P, Brancato Janna, Cardwell Jonathan, Blumhagen Rachel Z, de Andrade Joao, Bendstrup Elisabeth, Blackwell Timothy S, Bonella Francesco, Borie Raphael, Braybrooke Rebecca, Brown Kevin K, Carbone Roberto G, Christie Jason D, Costabel Ulrich, Crestani Bruno, Davidsen Jesper R, Dieude Philippe, Donnelly Seamas C, Egan Jim, Eickelberg Oliver, Fernández Pérez Evans R, Fiddler Christine A, Foster Elena E, Gibson Kevin F, Gudmundsson Gunnar, Guthridge Joel M, Henry Michael T, Hirani Nikhil, Jenkins R Gisli, Kass Daniel J, Keane Michael P, Kokturk Nurdan, Kropski Jonathan A, Lederer David, Leone Paolo M, Linderholm Angela L, Maher Toby M, Mathai Susan K, McCarthy Cormac, McElroy Aoife N, Mogulkoc Nesrin, Molina-Molina Maria, Molyneaux Philip L, Montesi Sydney B, Nathan Steven D, Noth Imre, Olaniyi Joshua A, Oldham Justin M, O'Reilly Katherine M A, Palmisciano Amy J, Pardo Annie, Parfrey Helen, Planas-Cerezales Lurdes, Poletti Venerino, Porteous Mary K, Puppo Francesco, Richeldi Luca, Rojas Mauricio, Salinas Mauricio, Schluger Neil, Selman Moises, Shea Barry S, Sterclova Martina, Solomon Joshua J, Tomassetti Sara, Vasakova Martina Koziar, Zhang Yingze, Corte Tamera J, Dickinson Joanne L, Glaspole Ian, Moodley Yuben P, Prele Cecilia M A, Ryerson Christopher J, Wolters Paul J, Jinno Megumi, Miyata Yoshito, Akagawa Shinobu, Narumoto Osamu, Kita Toshiyuki, Shibayama Takuo, Li Toshihiko, Owan Isoko, Wakamatsu Kentaro, Arai Toru, Hirose Masaki, Kim Dong Soon, Ohta Ken, Ohta Shin, Park Jong Sun, Park Moo Suk, Yang Ivana V, Fingerlin Tasha E, Miyazaki Yasunari, Okamoto Tsukasa, Inoue Yoshikazu, Song Jin Woo, Schwartz David A. Idiopathic pulmonary fibrosis risk loci in East Asian populations mirror those of European populations.. American journal of respiratory and critical care medicine. 2026. DOI: 10.1093/ajrccm/aamag152.

Предметные рубрики MeSH

Aged Female Humans Male Middle Aged European People Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Idiopathic Pulmonary Fibrosis Japan Polymorphism, Single Nucleotide Risk Factors White People East Asian People

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