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

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

Fine Mapping of the MHC Region Identifies Novel Variants Associated with HBV-Related Hepatocellular Carcinoma in Han Chinese

Mai, H., Chen, J., Chen, H., Liu, Z., Huang, G., Wang, J., Xiao, Q., Ren, W., Zhou, B., Hou, J., et al. (2021) · Journal of Hepatocellular Carcinoma · doi:10.2147/jhc.s321919 · Cited by 11

Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus

Suetsugu, H., Kim, K.-W., Yamamoto, T., Bang, S., Sakamoto, Y., Shin, J.-M., Sugano, N., Kim, J. S., Mukai, M., Lee, Y., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab306 · Cited by 12

Lack of Causal Relationships Between Chronic Hepatitis C Virus Infection and Alzheimer’s Disease

Huang, L., Wang, Y., Tang, Y., He, Y., & Han, Z. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.828827 · Cited by 11

Genetic association of leukocyte telomere length with Graves’ disease in Biobank Japan: A two-sample Mendelian randomization study

Ye, M., Wang, Y., & Zhan, Y. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.998102 · Cited by 10

The impact of SNP density on quantitative genetic analyses of body size traits in a wild population of Soay sheep

James, C., Pemberton, J. M., Navarro, P., & Knott, S. (2022) · Ecology and Evolution · doi:10.1002/ece3.9639 · Cited by 11

Genetic influences on human blood metabolites in the Japanese population

Iwasaki, T., Kamatani, Y., Sonomura, K., Kawaguchi, S., Kawaguchi, T., Takahashi, M., Ohmura, K., Sato, T., & Matsuda, F. (2022) · iScience · doi:10.1016/j.isci.2022.105738 · Cited by 10

BMI and Cardiometabolic Traits in Japanese: A Mendelian Randomization Study

Nagayoshi, M., Hishida, A., Shimizu, T., Kato, Y., Kubo, Y., Okada, R., Tamura, T., Otonari, J., Ikezaki, H., Hara, M., et al. (2023) · Journal of Epidemiology · doi:10.2188/jea.je20220154 · Cited by 12

Association Analyses of Predicted Loss-of-Function Variants Prioritized 15 Genes as Blood Pressure Regulators

Lecluze, E., & Lettre, G. (2023) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2023.07.011 · Cited by 11

Integrative Genomic Analysis Reveals Four Protein Biomarkers for Platelet Traits

Lee, D. H., Yao, C., Bhan, A., Schlaeger, T. M., Keefe, J. A., Rodriguez, B. A. T., Hwang, S., Chen, M., Levy, D. A., & Johnson, A. D. (2020) · Circulation Research · doi:10.1161/circresaha.119.316447 · Cited by 11

Association Between Inflammatory Bowel Disease and Atopic Dermatitis: A Two-Sample Mendelian Randomization Study

Gu, X., Ke, X., Shen, M., Zhang, M., & Su, J. (2021) · Inflammatory Bowel Diseases · doi:10.1093/ibd/izab240 · Cited by 11

Germline Genetic Associations for Hepatobiliary Cancers

Chotiprasidhi, P., Sato-Espinoza, A. K., & Wangensteen, K. J. (2023) · Cellular and Molecular Gastroenterology and Hepatology · doi:10.1016/j.jcmgh.2023.12.010 · Cited by 10

Graves’ disease and systemic lupus erythematosus: a Mendelian randomization study

Xian, W., Liu, B., Li, J., Yang, Y., Hong, S., Xiao, H., Wu, D., & Li, Y. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1273358 · Cited by 10

Proteo-genomic analyses in relatively lean Chinese adults identify proteins and pathways that affect general and central adiposity levels

Iona, A., Yao, P., Pozarickij, A., Kartsonaki, C., Said, S., Wright, N., Lin, K., Millwood, I. Y., Fry, H., Mazidi, M., et al. (2024) · Communications Biology · doi:10.1038/s42003-024-06984-y · Cited by 9

A proteome-wide association study identifies putative causal proteins for breast cancer risk

Zhao, T., Xu, S., Ping, J., Jia, G., Dou, Y., Henry, J. E., Zhang, B., Guo, X., Coté, M. L., Cai, Q., et al. (2024) · British Journal of Cancer · doi:10.1038/s41416-024-02879-1 · Cited by 10

Cross-ancestry analyses of Chinese and European populations reveal insights into the genetic architecture and disease implication of metabolites

Lin, C., Xia, M., Dai, Y., Huang, Q., Sun, Z., Zhang, G., Luo, R., Peng, Q., Li, J., Wang, X., et al. (2025) · Cell Genomics · doi:10.1016/j.xgen.2025.100810 · Cited by 11

Exploring Pleiotropic Effects of Lipid Modifiers and Targets on Measures of the Coagulation System with Genetics

Schooling, C. M., Yeung, S. L. A., & Zhao, J. V. (2021) · Thrombosis and Haemostasis · doi:10.1055/a-1711-0946 · Cited by 10

A Novel apaQTL-SNP for the Modification of Non-Small-Cell Lung Cancer Susceptibility across Histological Subtypes

Qiu, A., Xu, H., Mao, L., Xu, B., Fu, X., Cheng, J., Zhao, R., Cheng, Z., Liu, X., Xu, J., et al. (2022) · Cancers · doi:10.3390/cancers14215309 · Cited by 10

Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene

Tsai, M., Hsu, C.-H., Chu, S., Roy‐Gagnon, M., & Lin, S. (2023) · Journal of Human Genetics · doi:10.1038/s10038-023-01124-6 · Cited by 10

A Large-Scale Exome-Wide Association Study Identifies Novel Germline Mutations in Lung Cancer

Shen, S., Li, Z., Jiang, Y., Duan, W., Li, H., Du, S., Esteller, M., Shen, H., Hu, Z., Zhao, Y., et al. (2023) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202212-2199oc · Cited by 10

Assessing the safety of lipid-modifying medications among Chinese adolescents: a drug-target Mendelian randomization study

Luo, S., Lam, H. S., Chan, Y. H., Tang, C. S.-M., He, B., Kwok, M. K., Leung, G. M., Schooling, C. M., & Yeung, S. L. A. (2023) · BMC Medicine · doi:10.1186/s12916-023-03115-y · Cited by 10

An Inherited Allele Confers Prostate Cancer Progression and Drug Resistance via RFX6/HOXA10‐Orchestrated TGFβ Signaling

Zhong, M., Xu, W., Tian, P. W., Zhang, Q., Wang, Z., Liang, L., Zhang, Q., Yang, Y., Lü, Y., & Wei, G. (2024) · Advanced Science · doi:10.1002/advs.202401492 · Cited by 11

Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer

Hikino, K., Koido, M., Otomo, N., Tomizuka, K., Ikegawa, S., Matsuda, K., Momozawa, Y., The Biobank Japan Project, Yamanashi, Y., Furukawa, Y., et al. (2021) · Journal of Human Genetics · doi:10.1038/s10038-021-00980-4 · Cited by 10

Genetic predisposition to Parkinson's disease and risk of cardio and cerebrovascular disease: a Mendelian randomization study

Wang, M., Zhang, Z., Liu, D., Ji, L., Huang, S., Cao, L., Wei, N., Ye, D., Ma, Y., & Lian, X. (2021) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2021.11.021 · Cited by 10

Lifestyle habits and gastric cancer in an East Asian population: a Mendelian randomization study

Tan, Y., Wei, Z., Liu, K., Qin, Y., & Hui, W. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1224753 · Cited by 12

Genetically determined telomere length and its association with chronic obstructive pulmonary disease and interstitial lung disease in biobank Japan: A Mendelian randomization study

Zhu, Y., Meng, Y., Zhang, Y., Karlsson, I., Hägg, S., & Zhan, Y. (2023) · Heliyon · doi:10.1016/j.heliyon.2023.e23415 · Cited by 9

Association between green tea intake and digestive system cancer risk in European and East Asian populations: a Mendelian randomization study

Nie, D., He, X., Zheng, H., Deng, D., He, F., Li, R., Ni, X., Li, S., & Xu, F. (2024) · European Journal of Nutrition · doi:10.1007/s00394-023-03312-8 · Cited by 10

NLRP10 maintains epidermal homeostasis by promoting keratinocyte survival and P63-dependent differentiation and barrier function

Cho, Y., Cao, Z., Luo, X., Tian, J. J., Hukkanen, R. R., Hussien, R., Cancilla, B., Chowdhury, P., Li, F., Ma, S., et al. (2024) · Cell Death and Disease · doi:10.1038/s41419-024-07146-y · Cited by 8

Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study

Fadista, J., Yakimov, V., Võsa, U., Hansen, C., Kasela, S., Skotte, L., Geller, F., Courraud, J., Esko, T., Kukuskina, V., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-97069-x · Cited by 8

An integrated genome-wide analysis identifies HUR/ELAVL1 as a positive regulator of osteogenesis through enhancing the β-catenin signaling activity

Huai, Y., Chen, Z., Deng, X., Wang, X., Mao, W., Miao, Z., Li, Y., Li, H. Z., Lin, X., & Qian, A. (2022) · Genes & Diseases · doi:10.1016/j.gendis.2022.04.022 · Cited by 9

Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke

Xie, Y., Acosta, J., Ye, Y., Demarais, Z. S., Conlon, C. J., Chen, M., Zhao, H., & Falcone, G. J. (2023) · Stroke · doi:10.1161/strokeaha.122.040883 · Cited by 9

The causal association between obesity and gastric cancer and shared molecular signatures: a large-scale Mendelian randomization and multi-omics analysis

Xing, A., Tong, H. H. Y., Liu, S., Zhai, X., Yu, L., & Li, K. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1091958 · Cited by 9

Identification of genetically predicted DNA methylation markers associated with non–small cell lung cancer risk among 34,964 cases and 448,579 controls

Zhao, X., Yang, M., Fan, J., Wang, M., Wang, Y., Qin, N., Zhu, M., Jiang, Y., Gorlova, O. Y., Gorlov, I. P., et al. (2023) · Cancer · doi:10.1002/cncr.35130 · Cited by 11

The Genetic Variants Influencing Hypertension Prevalence Based on the Risk of Insulin Resistance as Assessed Using the Metabolic Score for Insulin Resistance (METS-IR)

Shine, B.-K., Choi, J., Park, Y., & Hong, K. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252312690 · Cited by 10

High-density lipoprotein, low-density lipoprotein and triglyceride levels and upper gastrointestinal cancers risk: a trans-ancestry Mendelian randomization study

Wu, Y., Xin, J., Loehrer, E. A., Jiang, X., Yuan, Q., Christiani, D. C., Shi, H., Liu, L., Li, S., Wang, M., et al. (2022) · European Journal of Clinical Nutrition · doi:10.1038/s41430-022-01078-6 · Cited by 9

Integrative analyses for the identification of idiopathic pulmonary fibrosis-associated genes and shared loci with other diseases

Chen, M., Zhang, Y., Adams, T. S., Ji, D., Jiang, W., Wain, L. V., Cho, M. H., Kaminski, N., & Zhao, H. (2022) · Thorax · doi:10.1136/thorax-2021-217703 · Cited by 11

CoMM-S4: A Collaborative Mixed Model Using Summary-Level eQTL and GWAS Datasets in Transcriptome-Wide Association Studies

Yang, Y., Yeung, K.-F., & Liu, J. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.704538 · Cited by 9

MRBEE: A novel bias-corrected multivariable Mendelian Randomization methodPreprint

Lorincz‐Comi, N. J., Yang, Y., Li, G., & Zhu, X. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.01.10.523480 · Cited by 9

Risk prediction and interaction analysis using polygenic risk score of type 2 diabetes in a Korean population

Song, M., Kwak, S. H., & Kim, J. (2024) · Scientific Reports · doi:10.1038/s41598-024-55945-2 · Cited by 9

Assessment of the Impact of Preanalytical DNA Integrity on the Genome Data Quality

Shim, S.-M., Lee, M., & Jeon, J. (2024) · Biopreservation and Biobanking · doi:10.1089/bio.2023.0050 · Cited by 9

Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations

Yamamoto, K., Namba, S., Sonehara, K., Ken, S., Sakaue, S., Cooke, N. P., Higashiue, S., Kobayashi, S., Afuso, H., Matsuura, K., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-54052-0 · Cited by 11

Early Diagnostic Value of Novel Biomarkers for Breast Cancer Therapy-Related Cardiac Dysfunction

Wang, Z., Wu, Y., He, J., Gao, D., & Zuo, Z. (2025) · ESC Heart Failure · doi:10.1002/ehf2.15363 · Cited by 8

Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing

Zheng, J., Wu, Y., Fang, W.-L., Cai, X., Zhang, Z.-Y.-O., Yu, C., Zheng, X., & Xiao, F. (2021) · Scientific Reports · doi:10.1038/s41598-021-01194-6 · Cited by 8

Polygenic risk scores in coronary artery disease

Christiansen, M. K., Nyegaard, M., & Jensen, H. K. (2022) · Current Opinion in Cardiology · doi:10.1097/hco.0000000000001007 · Cited by 9

Multi-trait genome-wide association study identifies a novel endometrial cancer risk locus that associates with testosterone levels

Wang, X. M., Kho, P. F., Ramachandran, D., Bafligil, C., Amant, F. C., Goode, E. L., Scott, R. J., Tomlinson, I. P. M., Evans, D. G., Crosbie, E. J., et al. (2023) · iScience · doi:10.1016/j.isci.2023.106590 · Cited by 8

Phagosomal RNA sensing through TLR8 controls susceptibility to tuberculosis

Maserumule, C., Passemar, C., Oh, O. S. H., Hegyi, K., Brown, K., Weimann, A., Dinan, A. M., Dávila, S., Klapholz, C., Bryant, J. M., et al. (2025) · Cell Reports · doi:10.1016/j.celrep.2025.115657 · Cited by 8

Contribution of lncRNA CASC8, CASC11, and PVT1 Genetic Variants to the Susceptibility of Coronary Heart Disease

Lu, Y., Yuan, W., Wang, L., Ning, M., Han, Y., Gu, W., Zhao, T., Shang, F., & Guo, X. (2021) · Journal of Cardiovascular Pharmacology · doi:10.1097/fjc.0000000000001019 · Cited by 8

Twelve Loci Associated With Bone Density in Middle-aged and Elderly Chinese: The Shanghai Changfeng Study

Zeng, H., Ge, J., Xu, W., Ma, H., Chen, L., Xia, M., Pan, B., Lin, H., Wang, S., & Gao, X. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac597 · Cited by 8

A statistical physics approach for disease module detectionPreprint

Wang, X., Qiao, D., Cho, M. H., DeMeo, D. L., Silverman, E. K., & Liu, Y. (2022) · Genome Research · doi:10.1101/gr.276690.122 · Cited by 7

Coronary artery disease-associated variants regulate vascular smooth muscle cell gene expression

Barbera, N. A., Lei, L., Wallace, A., Erin, F., Perry, R. N., den Ruijter, H. M., & Civelek, M. (2025) · Nature Cardiovascular Research · doi:10.1038/s44161-025-00714-1 · Cited by 7

Germline Predisposition to Prostate Cancer in Diverse Populations

Bree, K. K., Hensley, P. J., & Pettaway, C. A. (2021) · Urologic Clinics of North America · doi:10.1016/j.ucl.2021.03.008 · Cited by 7

Development and validation of genome-wide polygenic risk scores for predicting breast cancer incidence in Japanese females: a population-based case-cohort study

Ohbe, H., Hachiya, T., Yamaji, T., Nakano, S., Miyamoto, Y., Sut­oh, Y., Otsuka‐Yamasaki, Y., Shimizu, A., Yasunaga, H., Sawada, N., et al. (2022) · Breast Cancer Research and Treatment · doi:10.1007/s10549-022-06843-6 · Cited by 7

Genetically determined serum bilirubin level and the risk of heart failure: A mendelian randomization study

Guan, B., Ming-Yan, Y. A. N. G., Shen, X., Wang, Y., Liu, Y., Liu, R., Li, S., & Cao, J. J. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1067146 · Cited by 7

Associations of genetic markers of diabetes mellitus with carotid atherosclerosis: a community-based case–control study

Wu, T., Chou, C., Cheng, C.-F., Lu, S.-X., Wu, Y., & Wang, L. (2023) · Cardiovascular Diabetology · doi:10.1186/s12933-023-01787-7 · Cited by 7

The role of genetic factors in developing endometrioid lesions

Ponomareva, T. A., Altukhova, O. B., Ponomarenko, I., & Churnosov, M. I. (2023) · Obstetrics Gynecology and Reproduction · doi:10.17749/2313-7347/ob.gyn.rep.2023.434 · Cited by 7

Associations of non‐alcoholic fatty liver disease and cirrhosis with liver cancer in European and East Asian populations: A Mendelian randomization study

Deng, Y., Huang, J., & Wong, M. C. S. (2023) · Cancer Reports · doi:10.1002/cnr2.1913 · Cited by 8

T2DM may exert a protective effect against digestive system tumors in East Asian populations: a Mendelian randomization analysis

An, N. A., Zhang, Y., Sha, Z., Xu, Z. C., & Liu, X. (2024) · Frontiers in Oncology · doi:10.3389/fonc.2024.1327154 · Cited by 7

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., Liao, W., Chen, W.-C., Liu, T., Chen, Y., & Tsai, F. (2024) · BMC Genomics · doi:10.1186/s12864-024-10526-5 · Cited by 7

R2ROC: an efficient method of comparing two or more correlated AUC from out-of-sample prediction using polygenic scores

Momin, M. M., Wray, N. R., & Lee, S. (2024) · Human Genetics · doi:10.1007/s00439-024-02682-1 · Cited by 7

Leveraging genome‐wide association studies to better understand the etiology of cancers

Sonehara, K., & Okada, Y. (2024) · Cancer Science · doi:10.1111/cas.16402 · Cited by 7

Genome-wide CRISPR screen identified a role for commander complex mediated ITGB1 recycling in basal insulin secretion

Yang, L., Fye, M. A., Yang, B., Tang, Z., Zhang, Y., Haigh, S., Covington, B. A., Bracey, K. M., Taraska, J. W., Kaverina, I., et al. (2022) · Molecular Metabolism · doi:10.1016/j.molmet.2022.101541 · Cited by 8

Functional Genetics to Understand the Etiology of Autoimmunity

Hatano, H., & Ishigaki, K. (2023) · Genes · doi:10.3390/genes14030572 · Cited by 7

Causal associations between chronic hepatitis B and COVID-19 in East Asian populations

Liu, Z., Song, L., Chen, J., Zhou, Y., Wang, Y., Tang, L., & Li, Y. (2023) · Virology Journal · doi:10.1186/s12985-023-02081-4 · Cited by 7

Unraveling the role of non-coding rare variants in epilepsy

Girard, A., Moreau, C., Michaud, J. L., Minassian, B. A., Cossette, P., & Girard, S. (2023) · PLoS ONE · doi:10.1371/journal.pone.0291935 · Cited by 7

Genetic variations in medical research in the past, at present and in the future

KAMATANI, Y., & Nakamura, Y. (2021) · Proceedings of the Japan Academy Series B · doi:10.2183/pjab.97.018 · Cited by 7

Genetic validation of neurokinin 3 receptor antagonists for ischemic heart disease prevention in men – A one-sample Mendelian randomization study

Schooling, C. M. (2022) · EBioMedicine · doi:10.1016/j.ebiom.2022.103901 · Cited by 6

A comprehensive workflow for target adaptive sampling long-read sequencing applied to hereditary cancer patient genomesPreprint

Nakamura, W., Hirata, M., Oda, S., Chiba, K., Okada, A., Mateos, R. N., Sugawa, M., Iida, N., Ushiama, M., Tanabe, N., et al. (2023) · medRxiv · doi:10.1101/2023.05.30.23289318 · Cited by 7

Sex-specific associations between air pollutants and asthma prevalence in Japanese adults: a population-based study

Hara, A., Sato, T. K., Kress, S., Suzuki, K., Pham, K.-O., Tajima, A., Schikowski, T., & Nakamura, H. (2024) · International Journal of Environmental Health Research · doi:10.1080/09603123.2024.2352597 · Cited by 6

Coffee and Risk of Pancreatic Cancer: Insights from Two-Sample and Multivariable Mendelian Randomization Analyses

Lu, Y., Wang, P., Liu, H., Li, T., Wang, H., Jiang, D., Liu, L., & Ye, H. (2024) · Nutrients · doi:10.3390/nu16213723 · Cited by 6

Systematic review of genome-wide association studies (GWAS) of epilepsy identifies common risk variants and associated genes

Jacobs, S., Wootton, O., Ives-Deliperi, V. L., Tucker, L. M., Stein, D. J., & Dalvie, S. (2024) · The World Journal of Biological Psychiatry · doi:10.1080/15622975.2024.2436866 · Cited by 6

Ancestral diversity in complex disease genetics: from discovery to translation

Kuchenbaecker, K. B., & Navoly, G. (2026) · Nature Reviews Genetics · doi:10.1038/s41576-025-00921-3 · Cited by 6

Genetic variants in choline metabolism pathway are associated with the risk of bladder cancer in the Chinese population

Han, Z., Gu, J., Xin, J., Liu, H., Wu, Y., Du, M., Chu, H., Liu, Y., & Zhang, Z. (2022) · Archives of Toxicology · doi:10.1007/s00204-022-03258-6 · Cited by 6

Investigation of common genetic risk factors between thyroid traits and breast cancer

Lucotte, E. A., Asgari, Y., Sugier, P., Karimi, M., Domenighetti, C., Lesueur, F., Boland, A., Ostroumova, E., de Vathaire, F., Zidane, M., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad159 · Cited by 7

Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome

Andreotti, V., Vanni, I., Pastorino, L., Ghiorzo, P., & Bruno, W. (2024) · Genes · doi:10.3390/genes15010104 · Cited by 6

Causal association between snoring and stroke: a Mendelian randomization study in a Chinese population

Zhu, Y., Zhuang, Z., Lv, J., Sun, D., Pei, P., Yang, L., Millwood, I. Y., Walters, R. G., Chen, Y., Du, H., et al. (2024) · The Lancet Regional Health - Western Pacific · doi:10.1016/j.lanwpc.2023.101001 · Cited by 6

The impacts of noise and air pollution on breast cancer risk in European and East Asian populations: Insights from genetic evidence

Yu, C., Xu, J., Xu, S., Tang, L., Zhang, X., Chen, W., & Yu, T. (2024) · Public Health · doi:10.1016/j.puhe.2024.11.021 · Cited by 6

GWAS-Significant Loci and Uterine Fibroids Risk: Analysis of Associations, Gene-Gene and Gene-Environmental Interactions

Ponomareva, L., Kobzeva, K., & Bushueva, O. Y. (2024) · Frontiers in Bioscience-Scholar · doi:10.31083/j.fbs1604024 · Cited by 6

JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease

Imai, Y., Kusano, K., Aiba, T., Ako, J., Asano, Y., Harada‐Shiba, M., Kataoka, M., Kosho, T., Kubo, T., Matsumura, T., et al. (2025) · Journal of Cardiology · doi:10.1016/j.jjcc.2024.10.002 · Cited by 6

Polygenic Risk Score Improves Cataract Prediction in East Asian Population

Hsu, C., Chuang, H.-K., Hsiao, Y., Teng, Y., Chiang, P.-H., Wang, Y.-J., Lin, T.-Y., Tsai, P., Weng, C.-C., Lin, T., et al. (2022) · Biomedicines · doi:10.3390/biomedicines10081920 · Cited by 6

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. (2023) · Diabetology & Metabolic Syndrome · doi:10.1186/s13098-023-01053-6 · Cited by 7

Mendelian randomization analysis of atopic dermatitis and esophageal cancer in East Asian and European populations

Liu, Y., Gu, Y., Zhou, J., Zhang, H., Shang, Q., Yang, Y., & Chen, L. (2024) · World Allergy Organization Journal · doi:10.1016/j.waojou.2023.100868 · Cited by 6

Exploring genetic associations of Crohn’s disease and ulcerative colitis with extraintestinal cancers in European and East Asian populations

Yu, C., Xu, J., Xu, S., Tang, L., Han, Q., Zeng, X., Huang, Y., Yu, T., & Sun, Z. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1339207 · Cited by 7

A transcriptome-wide association study identified susceptibility genes for hepatocellular carcinoma in East Asia

Zhang, J. M., Zhang, Q., Hu, W., Liang, Y., Jiang, D., & Chen, H. (2023) · Gastroenterology report · doi:10.1093/gastro/goae057 · Cited by 6

Causal Inference between Rheumatoid Arthritis and Breast Cancer in East Asian and European Population: A Two-Sample Mendelian Randomization

Ahn, C., Lee, S., & Park, S. K. (2020) · Cancers · doi:10.3390/cancers12113272 · Cited by 6

Leveraging Single-Cell RNA-seq Data to Uncover the Association Between Cell Type and Chronic Liver Diseases

Ye, X., Wei, J., Yue, M., Wang, Y., Chen, H., Zhang, Y., Wang, Y., Zhang, M., Huang, P., & Yu, R. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.637322 · Cited by 6

The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcarePreprint

Hanscombe, K. B., Persyn, E., Traylor, M., Glanville, K. P., Hamer, M., Coleman, J. R. I., & Lewis, C. M. (2020) · medRxiv · doi:10.1101/2020.12.08.20243337 · Cited by 6

Genetic factors in the clinical predictive model for hepatocellular carcinoma: Evidence from genetic association analyses

Chen, L., Fan, Z., Zhao, Y., Yang, H., & Lv, G. (2023) · Journal of Hepatology · doi:10.1016/j.jhep.2022.12.024 · Cited by 6

Mapping the aetiological foundations of the heart failure spectrum using human geneticsPreprint

Henry, A., Mo, X., Finan, C., Chaffin, M. D., Speed, D., Issa, H. G., Denaxas, S., Ware, J. S., Zheng, S. L., Mälarstig, A., et al. (2023) · medRxiv · doi:10.1101/2023.10.01.23296379 · Cited by 6

Identification of asthma-related genes using asthmatic blood eQTLs of Korean patients

Kim, D. J., Lim, J. E., Jung, H., Chung, J. Y., Baek, E. J., Jung, H., Kwon, S. Y., Kim, H., Kang, J., Park, K., et al. (2023) · BMC Medical Genomics · doi:10.1186/s12920-023-01677-7 · Cited by 6

A genome-wide association study based on the China Kadoorie Biobank identifies genetic associations between snoring and cardiometabolic traits

Zhu, Y., Zhuang, Z., Lv, J., Sun, D., Pei, P., Yang, L., Millwood, I. Y., Walters, R. G., Chen, Y., Du, H., et al. (2024) · Communications Biology · doi:10.1038/s42003-024-05978-0 · Cited by 5

No Association of Polymorphisms in the Genes Encoding Interleukin-6 and Interleukin-6 Receptor Subunit Alpha with the Risk of Keloids in Polish Patients

Dmytrzak, A., Lewandowska, K., Boroń, A., Łoniewska, B., Grzesch, N., Brodkiewicz, A., Clark, J., Ciechanowicz, A., & Kostrzewa-Nowak, D. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25105284 · Cited by 5

HiChIP-Based Epigenomic Footprinting Identifies a Promoter Variant of UXS1 That Confers Genetic Susceptibility to Gastroesophageal Cancer

Gnanapragasam, A., Kirbizakis, E., Li, A., White, K. H., Mortenson, K. L., de Moura, J. C., Jawhar, W., Yan, Y., Falter, R., Russett, C. S., et al. (2024) · Cancer Research · doi:10.1158/0008-5472.can-23-2397 · Cited by 5

The Future of Kawasaki Disease Diagnosis: Liquid Biopsy May Hold the Key

Markandran, K., Clemente, K. N. M., Tan, E., Attal, K., Chee, Q. Z., Cheung, C., & Chen, C. K. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25158062 · Cited by 5

Atg16l2 augments Nlrc4 inflammasome activation by facilitating NAIPs–NLRC4 association

Wen, Z., Yuan, T., Liu, J., Wang, D., Ni, J., Yan, X., Tang, J., Tang, J., Wu, X., & Wang, Z. (2024) · European Journal of Immunology · doi:10.1002/eji.202451078 · Cited by 6

Gut microbiome and obesity in late adolescence: A case-control study in “Children of 1997” birth cohort

He, B., Xu, S., Schooling, C. M., Leung, G. M., Ho, J. W. K., & Yeung, S. L. A. (2024) · Annals of Epidemiology · doi:10.1016/j.annepidem.2024.12.009 · Cited by 6

Recurrent Stroke Prediction by Applying a Stroke Polygenic Risk Score in the Japanese Population

Kojima, N., Koido, M., He, Y., Shimmori, Y., Hachiya, T., Japan, B., Debette, S., & Kamatani, Y. (2025) · Stroke · doi:10.1161/strokeaha.124.047786 · Cited by 5

Elucidation of disease etiology by trans-layer omics analysis

Shirai, Y., & Okada, Y. (2021) · Inflammation and Regeneration · doi:10.1186/s41232-021-00155-w · Cited by 6

New insights from genetic studies of eczema

Marenholz, I., Arnau‐Soler, A., Rosillo-Salazar, O. D., & Lee, Y. (2023) · Medizinische Genetik · doi:10.1515/medgen-2023-2010 · Cited by 6

An attempt to establish real-world databases of poly(ADP-ribose) polymerase inhibitors for advanced or recurrent epithelial ovarian cancer: the Japanese Gynecologic Oncology Group

Shimada, M., Yoshihara, K., Tanigawa, T., Nomura, H., Hamanishi, J., Fujiwara, S., Tanabe, H., Kajiyama, H., Mandai, M., Aoki, D., et al. (2023) · Journal of Gynecologic Oncology · doi:10.3802/jgo.2023.34.e62 · Cited by 5

Diseases of the musculoskeletal system and connective tissue and risk of breast cancer: Mendelian randomization study in European and East Asian populations

Xu, Y.-C., Wang, J., Chu, Y.-R., Qian, H., Wang, H., & Wang, F. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1170119 · Cited by 6

Comprehensive genomic profiling testing in Japanese castration-resistant prostate cancer patients: results of a single-center retrospective cohort study

Fukushima, T., Goto, K., Hayashi, T., Ikeda, K., Hatayama, T., Yamanaka, R., Iwane, K., Tasaka, R., Kohada, Y., Takemoto, K., et al. (2023) · Japanese Journal of Clinical Oncology · doi:10.1093/jjco/hyad148 · Cited by 5

Large-scale meta-analysis of over one million individuals reveals the genetic architecture of 127 complex traits in East Asian populationsPreprint

Jo, J., Khor, S., Chu, S., Ji, Y., Ueno, K., Ono, A., Chen, C.-W., Ra, A., Han, H., Kawai, Y., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.18.730290

Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease

Matsunaga, H., Ito, K., Akiyama, M., Takahashi, A., Koyama, S., Nomura, S., Ieki, H., Ozaki, K., Onouchi, Y., Sakaue, S., et al. (2020) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.119.002670 · Cited by 102

Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes

Imamura, M., Takahashi, A., Yamauchi, T., Hara, K., Yasuda, K., Grarup, N., Zhao, W., Wang, X., Huerta‐Chagoya, A., Hu, C., et al. (2016) · Nature Communications · doi:10.1038/ncomms10531 · Cited by 176

Analysis across Taiwan Biobank, Biobank Japan, and UK Biobank identifies hundreds of novel loci for 36 quantitative traits

Chen, C., Chen, T., Feng, Y. A., Yu, M., Lin, S., Longchamps, R. J., Wang, S., Hsu, Y., Yang, H., Kuo, P., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100436 · Cited by 82

Population-specific and transethnic genome-wide analyses reveal distinct and shared genetic risks of coronary artery diseasePreprint

Koyama, S., Ito, K., Terao, C. C., Akiyama, M., Horikoshi, M., Momozawa, Y., Matsunaga, H., Ieki, H., Ozaki, K., Onouchi, Y., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/827550 · Cited by 1