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Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

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Ishigaki, Kazuyoshi, Akiyama, Masato, Kanai, Masahiro, Takahashi, Atsushi, Kawakami, Eiryo, Sugishita, Hiroki, Sakaue, Saori, Matoba, Nana, Low, Siew-Kee, Okada, Yukinori, Terao, Chikashi, Amariuta, Tiffany, Gazal, Steven, Kochi, Yuta, Horikoshi, Momoko, Suzuki, Ken, Ito, Kaoru, Koyama, Satoshi, Ozaki, Kouichi, Niida, Shumpei, Sakata, Yasushi, Sakata, Yasuhiko, Kohno, Takashi, Shiraishi, Kouya, Momozawa, Yukihide, Hirata, Makoto, Matsuda, Koichi, Ikeda, Masashi, Iwata, Nakao, Ikegawa, Shiro, Kou, Ikuyo, Tanaka, Toshihiro, Nakagawa, Hidewaki, Suzuki, Akari, Hirota, Tomomitsu, Tamari, Mayumi, Chayama, Kazuaki, Miki, Daiki, Mori, Masaki, Nagayama, Satoshi, Daigo, Yataro, Miki, Yoshio, Katagiri, Toyomasa, Ogawa, Osamu, Obara, Wataru, Ito, Hidemi, Yoshida, Teruhiko, Imoto, Issei, Takahashi, Takashi, Tanikawa, Chizu, Suzuki, Takao, Sinozaki, Nobuaki, Minami, Shiro, Yamaguchi, Hiroki, Asai, Satoshi, Takahashi, Yasuo, Yamaji, Ken, Takahashi, Kazuhisa, Fujioka, Tomoaki, Takata, Ryo, Yanai, Hideki, Masumoto, Akihide, Koretsune, Yukihiro, Kutsumi, Hiromu, Higashiyama, Masahiko, Murayama, Shigeo, Minegishi, Naoko, Suzuki, Kichiya, Tanno, Kozo, Shimizu, Atsushi, Yamaji, Taiki, Iwasaki, Motoki, Sawada, Norie, Uemura, Hirokazu, Tanaka, Keitaro, Naito, Mariko, Sasaki, Makoto, Wakai, Kenji, Tsugane, Shoichiro, Yamamoto, Masayuki, Yamamoto, Kazuhiko, Murakami, Yoshinori, Nakamura, Yusuke, Raychaudhuri, Soumya, Inazawa, Johji, Yamauchi, Toshimasa, Kadowaki, Takashi, Kubo, Michiaki, Kamatani, Yoichiro·2020·Nature Genetics

DOI 10.1038/s41588-020-0640-3PMC PMC7968075

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Abstract

The overwhelming majority of participants in current genetic studies are of European ancestry. To elucidate disease biology in the East Asian population, we conducted a genome-wide association study (GWAS) with 212,453 Japanese individuals across 42 diseases. We detected 320 independent signals in 276 loci for 27 diseases, with 25 novel loci (P < 9.58 × 10-9). East Asian-specific missense variants were identified as candidate causal variants for three novel loci, and we successfully replicated two of them by analyzing independent Japanese cohorts; p.R220W of ATG16L2 (associated with coronary artery disease) and p.V326A of POT1 (associated with lung cancer). We further investigated enrichment of heritability within 2,868 annotations of genome-wide transcription factor occupancy, and identified 378 significant enrichments across nine diseases (false discovery rate < 0.05) (for example, NKX3-1 for prostate cancer). This large-scale GWAS in a Japanese population provides insights into the etiology of complex diseases and highlights the importance of performing GWAS in non-European populations.

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A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,724
Second-generation PLINK: rising to the challenge of larger and richer datasets
Chang, C. C., Chow, C. C., Tellier, L. C., Vattikuti, S., Purcell, S. M., & Lee, J. J. (2015) · Gigascience · doi:10.1186/s13742-015-0047-8 · Cited by 12,709
UMAP: Uniform Manifold Approximation and Projection
McInnes, L., Healy, J., Saul, N., & Großberger, L. (2018) · Journal of Open Source Software · doi:10.21105/joss.00861 · Cited by 9,826
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559
Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics
Giambartolomei, C., Vukcevic, D., Schadt, E. E., Franke, L., Hingorani, A. D., Wallace, C., & Plagnol, V. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004383 · Cited by 4,261
An atlas of genetic correlations across human diseases and traits
ReproGen Consortium, Bulik-Sullivan, B., Psychiatric Genomics Consortium, Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium 3, Finucane, H. K., Anttila, V., Gusev, A., Day, F. R., Loh, P.-R., Duncan, L., et al. (2015) · Nature Genetics · doi:10.1038/ng.3406 · Cited by 4,255
Genetic effects on gene expression across human tissues
GTEx Consortium (2017) · Nature · doi:10.1038/nature24277 · Cited by 4,036
Systematic Localization of Common Disease-Associated Variation in Regulatory DNA
Maurano, M. T., Humbert, R., Rynes, E., Thurman, R. E., Haugen, E., Wang, H., Reynolds, A. P., Sandstrom, R., Qu, H., Brody, J., et al. (2012) · Science · doi:10.1126/science.1222794 · Cited by 3,716
CADD: predicting the deleteriousness of variants throughout the human genome
Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J., & Kircher, M. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1016 · Cited by 3,534

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Additional file 2 of Association between inflammatory bowel disease and cancer risk: evidence triangulation from genetic correlation, Mendelian randomization, and colocalization analyses across East Asian and European populations
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Additional file 5 of Multi-trait GWAS for diverse ancestries: mapping the knowledge gap
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Additional file 4 of Leveraging IgG N-glycosylation to infer the causality between T2D and hypertension
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Additional file 4 of Multi-trait GWAS for diverse ancestries: mapping the knowledge gap
Troubat, L., Fettahoglu, D., Henches, L., Aschard, H., & Julienne, H. (2024) · Figshare · doi:10.6084/m9.figshare.26707904
Additional file 5 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease
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Additional file 3 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease
King, A., Wu, L., HongWen, D., Shen, H., & Wu, C. (2022) · Figshare · doi:10.6084/m9.figshare.21510504
Additional file 5 of Leveraging IgG N-glycosylation to infer the causality between T2D and hypertension
Wang, H., Li, Y., Cao, W., Zhang, J., Cao, M., Meng, X., Liu, D., & Wang, Y. (2024) · Figshare · doi:10.6084/m9.figshare.26584716
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Additional file 3 of Unraveling genetic causality between type 2 diabetes and pulmonary tuberculosis on the basis of Mendelian randomization
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Additional file 3 of Multi-trait GWAS for diverse ancestries: mapping the knowledge gap
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Additional file 11 of Multi-trait GWAS for diverse ancestries: mapping the knowledge gap
Troubat, L., Fettahoglu, D., Henches, L., Aschard, H., & Julienne, H. (2024) · Figshare · doi:10.6084/m9.figshare.26707925
Additional file 5 of Genome-wide association study identifies novel susceptible loci and evaluation of polygenic risk score for chronic obstructive pulmonary disease in a Taiwanese population
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Additional file 2 of Multi-trait GWAS for diverse ancestries: mapping the knowledge gap
Troubat, L., Fettahoglu, D., Henches, L., Aschard, H., & Julienne, H. (2024) · Figshare · doi:10.6084/m9.figshare.25622148
Additional file 1 of Multi-trait GWAS for diverse ancestries: mapping the knowledge gap
Troubat, L., Fettahoglu, D., Henches, L., Aschard, H., & Julienne, H. (2024) · Figshare · doi:10.6084/m9.figshare.25621991
Additional file 1 of Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations
Xin, J., Du, M., Gu, D., Jiang, K., Wang, M., Jin, M., Hu, Y., Ben, S., Chen, S., Shao, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26563878
Additional file 2 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease
King, A., Wu, L., HongWen, D., Shen, H., & Wu, C. (2022) · Figshare · doi:10.6084/m9.figshare.21510501
Additional file 4 of Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease
King, A., Wu, L., HongWen, D., Shen, H., & Wu, C. (2022) · Figshare · doi:10.6084/m9.figshare.21510507
Additional file 1 of Genome-wide association study identifies novel susceptible loci and evaluation of polygenic risk score for chronic obstructive pulmonary disease in a Taiwanese population
Lin, W.-D., Liao, W.-L., Chen, W.-C., Liu, T.-Y., Chen, Y.-C., & Tsai, F.-J. (2024) · Figshare · doi:10.6084/m9.figshare.26054668
Additional file 2 of Genome-wide association study identifies novel susceptible loci and evaluation of polygenic risk score for chronic obstructive pulmonary disease in a Taiwanese population
Lin, W.-D., Liao, W.-L., Chen, W.-C., Liu, T.-Y., Chen, Y.-C., & Tsai, F.-J. (2024) · Figshare · doi:10.6084/m9.figshare.26054770
Additional file 3 of Leveraging IgG N-glycosylation to infer the causality between T2D and hypertension
Wang, H., Li, Y., Cao, W., Zhang, J., Cao, M., Meng, X., Liu, D., & Wang, Y. (2024) · Figshare · doi:10.6084/m9.figshare.26584710
Additional file 7 of Multi-trait GWAS for diverse ancestries: mapping the knowledge gap
Troubat, L., Fettahoglu, D., Henches, L., Aschard, H., & Julienne, H. (2024) · Figshare · doi:10.6084/m9.figshare.26707913

Authors: Ishigaki, K., Akiyama, M., Kanai, M., Takahashi, A., Kawakami, E., Sugishita, H., Sakaue, S., Matoba, N., Low, S.-K., Okada, Y., Terao, C., Amariuta, T., Gazal, S., Kochi, Y., Horikoshi, M., Suzuki, K., Ito, K., Koyama, S., Ozaki, K., Niida, S., Sakata, Y., Sakata, Y., Kohno, T., Shiraishi, K., Momozawa, Y., Hirata, M., Matsuda, K., Ikeda, M., Iwata, N., Ikegawa, S., Kou, I., Tanaka, T., Nakagawa, H., Suzuki, A., Hirota, T., Tamari, M., Chayama, K., Miki, D., Mori, M., Nagayama, S., Daigo, Y., Miki, Y., Katagiri, T., Ogawa, O., Obara, W., Ito, H., Yoshida, T., Imoto, I., Takahashi, T., Tanikawa, C., Suzuki, T., Sinozaki, N., Minami, S., Yamaguchi, H., Asai, S., Takahashi, Y., Yamaji, K., Takahashi, K., Fujioka, T., Takata, R., Yanai, H., Masumoto, A., Koretsune, Y., Kutsumi, H., Higashiyama, M., Murayama, S., Minegishi, N., Suzuki, K., Tanno, K., Shimizu, A., Yamaji, T., Iwasaki, M., Sawada, N., Uemura, H., Tanaka, K., Naito, M., Sasaki, M., Wakai, K., Tsugane, S., Yamamoto, M., Yamamoto, K., Murakami, Y., Nakamura, Y., Raychaudhuri, S., Inazawa, J., Yamauchi, T., Kadowaki, T., Kubo, M., & Kamatani, Y.
Affiliations: Broad Institute (US)
Kyushu University (JP)
National Cerebral and Cardiovascular Center (JP)
Chiba University (JP)
RIKEN Center for Integrative Medical Sciences (JP)
University of North Carolina at Chapel Hill (US)
Tokyo Medical and Dental University (JP)
Medical Genome Center, National Center for Geriatrics and Gerontology (JP)
Tohoku University (JP)
National Cancer Center Research Institute (JP)
Institute of Medical Science, The University of Tokyo (JP)
The University of Tokyo (JP)
Fujita Health University (JP)
Hiroshima University (JP)
The Cancer Institute Hospital (JP)
Shiga University of Medical Science (JP)
Japanese Foundation For Cancer Research (JP)
Tokushima University (JP)
Kyoto University (JP)
Iwate Medical University (JP)
Aichi Cancer Center (JP)
Nippon Medical School (JP)
Nihon University (JP)
Juntendo University (JP)
Japan Anti Tuberculosis Association (JP)
Aso Iizuka Hospital (JP)
Osaka National Hospital (JP)
Osaka International Cancer Institute (JP)
Tokyo Metropolitan Institute of Gerontology (JP)
National Cancer Centre Japan (JP)
University of Hyogo (JP)
Saga University (JP)
Nagoya University (JP)
Corresponding author: Raychaudhuri, Soumya
Inazawa, Johji
Yamauchi, Toshimasa
Kadowaki, Takashi
Kubo, Michiaki
Kamatani, Yoichiro
ORCID: Ishigaki, Kazuyoshi
Akiyama, Masato
Kanai, Masahiro
Takahashi, Atsushi
Kawakami, Eiryo
Sugishita, Hiroki
Sakaue, Saori
Matoba, Nana
Low, Siew-Kee
Okada, Yukinori
Terao, Chikashi
Amariuta, Tiffany
Gazal, Steven
Kochi, Yuta
Horikoshi, Momoko
Suzuki, Ken
Ito, Kaoru
Koyama, Satoshi
Ozaki, Kouichi
Niida, Shumpei
Sakata, Yasushi
Sakata, Yasuhiko
Kohno, Takashi
Shiraishi, Kouya
Momozawa, Yukihide
Hirata, Makoto
Matsuda, Koichi
Ikeda, Masashi
Iwata, Nakao
Ikegawa, Shiro
Kou, Ikuyo
Tanaka, Toshihiro
Nakagawa, Hidewaki
Suzuki, Akari
Hirota, Tomomitsu
Tamari, Mayumi
Chayama, Kazuaki
Miki, Daiki
Mori, Masaki
Nagayama, Satoshi
Daigo, Yataro
Miki, Yoshio
Katagiri, Toyomasa
Ogawa, Osamu
Obara, Wataru
Ito, Hidemi
Imoto, Issei
Takahashi, Takashi
Suzuki, Takao
Yamaguchi, Hiroki
Asai, Satoshi
Takahashi, Yasuo
Yamaji, Ken
Takahashi, Kazuhisa
Takata, Ryo
Yanai, Hideki
Murayama, Shigeo
Minegishi, Naoko
Suzuki, Kichiya
Tanno, Kozo
Shimizu, Atsushi
Yamaji, Taiki
Iwasaki, Motoki
Sawada, Norie
Uemura, Hirokazu
Tanaka, Keitaro
Naito, Mariko
Sasaki, Makoto
Wakai, Kenji
Tsugane, Shoichiro
Yamamoto, Masayuki
Yamamoto, Kazuhiko
Murakami, Yoshinori
Nakamura, Yusuke
Raychaudhuri, Soumya
Inazawa, Johji
Yamauchi, Toshimasa
Kadowaki, Takashi
Kubo, Michiaki
Kamatani, Yoichiro
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2020-06-08
Volume: 52
Issue: 7
Pages: 669-679
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/s41588-020-0640-3
PMC: PMC7968075
OpenAlex: W3033304694
Cited by: 508
References: 65
Citations by year: 2026: 56 · 2025: 72 · 2024: 120 · 2023: 100 · 2022: 81 · 2021: 63 · 2020: 15
FWCI: 38.26
Type: journal article
Language: en
Open access: green
doi.org
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Genetics (publishedVersion)
bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion)
Funders: Japan Agency for Medical Research and Development (JP20dk0207045, JP18kk0205009, JP19ek0210081, JP16ck0106096, JP17km0305001, JP19km0105001, JP19km0105002, JP17km0305002)
National Cancer Center Research and Development Fund
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
Keywords: disease susceptibility loci, Japanese population, novel genetic loci, missense mutations, ATG16L2, POT1, coronary artery disease, lung cancer, transcription factor occupancy, heritability enrichment, NKX3.1, prostate cancer, complex diseases, non-European populations
MeSH terms: Female, Humans, Japan, Male, Sex Factors, Transcription Factors, Genetic Variation, Cohort Studies, Genetic Predisposition to Disease, Inheritance Patterns, Genome-Wide Association Study

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Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

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