• 26423 Citations
  • 80 h-Index
19942019
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Research Output 1994 2019

2019
Open Access
Hypogonadism
Testicular Neoplasms
Multicenter Studies
Drug Therapy
Survivors
1 Citation (Scopus)

A genome-wide association study of coping behaviors suggests FBXO45 is associated with emotional expression

Shimanoe, C., Hachiya, T., Hara, M., Nishida, Y., Tanaka, K., Sutoh, Y., Shimizu, A., Hishida, A., Kawai, S., Okada, R., Tamura, T., Matsuo, K., Ito, H., Ozaki, E., Matsui, D., Ibusuki, R., Shimoshikiryo, I., Takashima, N., Kadota, A., Arisawa, K. & 12 others, Uemura, H., Suzuki, S., Watanabe, M., Kuriki, K., Endoh, K., Mikami, H., Nakamura, Y., Momozawa, Y., Kubo, M., Nakatochi, M., Naito, M. & Wakai, K., 01-02-2019, In : Genes, Brain and Behavior. 18, 2, e12481.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Psychological Adaptation
Genes
Regulator Genes
Synapses

Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome-Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2

Dudenkov, T. M., Liu, D., Cairns, J., Devarajan, S., Zhuang, Y., Ingle, J. N., Buzdar, A. U., Robson, M. E., Kubo, M., Batzler, A., Barman, P., Jenkins, G. D., Carlson, E. E., Goetz, M. P., Northfelt, D. W., Moreno-Aspitia, A., Desta, Z., Reid, J. M., Kalari, K. R., Wang, L. & 1 others, Weinshilboum, R. M., 01-07-2019, In : Clinical Pharmacology and Therapeutics. 106, 1, p. 219-227 9 p.

Research output: Contribution to journalArticle

Open Access
Aromatase Inhibitors
Genome-Wide Association Study
Single Nucleotide Polymorphism
Pharmaceutical Preparations
Breast Neoplasms

An initial genetic analysis of gemcitabine-induced high-grade neutropenia in pancreatic cancer patients in CALGB 80303 (Alliance)

Innocenti, F., Jiang, C., Sibley, A. B., Denning, S., Etheridge, A. S., Watson, D., Niedzwiecki, D., Hatch, A. J., Hurwitz, H. I., Nixon, A. B., Furukawa, Y., Kubo, M., Crona, D. J., Kindler, H. L., McLeod, H. L., Ratain, M. J. & Owzar, K., 01-08-2019, In : Pharmacogenetics and Genomics. 29, 6, p. 123-131 9 p.

Research output: Contribution to journalArticle

gemcitabine
Neutropenia
Pancreatic Neoplasms
Genome
Confidence Intervals

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

Iida, A., Takeshita, E., Kosugi, S., Kamatani, Y., Momozawa, Y., Kubo, M., Nakagawa, E., Kurosawa, K., Inoue, K. & Goto, Y. I., 01-12-2019, In : Human Genome Variation. 6, 1, 1.

Research output: Contribution to journalArticle

Open Access
Dandy-Walker Syndrome
Exons
Fourth Ventricle
Intellectual Disability
Dilatation
3 Citations (Scopus)

A Pharmacogenetic Prediction Model of Progression-Free Survival in Breast Cancer using Genome-Wide Genotyping Data from CALGB 40502 (Alliance)

Rashkin, S. R., Chua, K. C., Ho, C., Mulkey, F., Jiang, C., Mushiroda, T., Kubo, M., Friedman, P. N., Rugo, H. S., McLeod, H. L., Ratain, M. J., Castillos, F., Naughton, M., Overmoyer, B., Toppmeyer, D., Witte, J. S., Owzar, K. & Kroetz, D. L., 01-03-2019, In : Clinical Pharmacology and Therapeutics. 105, 3, p. 738-745 8 p.

Research output: Contribution to journalArticle

Pharmacogenetics
Disease-Free Survival
Area Under Curve
Genome
Breast Neoplasms
1 Citation (Scopus)

Association between Genetic Risk and Development of Type 2 Diabetes in a General Japanese Population: The Hisayama Study

Inaishi, J., Hirakawa, Y., Horikoshi, M., Akiyama, M., Higashioka, M., Yoshinari, M., Hata, J., Mukai, N., Kamatani, Y., Momozawa, Y., Kubo, M. & Ninomiya, T., 19-06-2019, In : Journal of Clinical Endocrinology and Metabolism. 104, 8, p. 3213-3222 10 p.

Research output: Contribution to journalArticle

Medical problems
Type 2 Diabetes Mellitus
Population
Hazards
Precision Medicine

Bactericidal/Permeability-Increasing Fold-Containing Family B Member 4 May Be Associated with NSAID-Induced Enteropathy

Fujimori, S., Fukunaga, K., Takahashi, A., Mushiroda, T., Kubo, M., Hanada, R., Hayashida, M., Sakurai, T., Iwakiri, K. & Sakamoto, C., 15-02-2019, In : Digestive Diseases and Sciences. 64, 2, p. 401-408 8 p.

Research output: Contribution to journalArticle

Single Nucleotide Polymorphism
Permeability
Anti-Inflammatory Agents
Genome-Wide Association Study
Celecoxib

Clinical and genome-wide analysis of cisplatininduced tinnitus implicates novel ototoxic mechanisms

El Charif, O., Mapes, B., Trendowski, M. R., Wheeler, H. E., Wing, C., Dinh, P. C., Frisina, R. D., Feldman, D. R., Hamilton, R. J., Vaughn, D. J., Fung, C., Kollmannsberger, C., Mushiroda, T., Kubo, M., Gamazon, E. R., Cox, N. J., Huddart, R., Ardeshir-Rouhani-Fard, S., Monahan, P., Fossa, S. D. & 3 others, Einhorn, L. H., Travis, L. B. & Dolan, M. E., 01-01-2019, In : Clinical Cancer Research. 25, 13, p. 4104-4116 13 p.

Research output: Contribution to journalArticle

Tinnitus
Cisplatin
Genome
Testicular Neoplasms
Survivors

Clinical and genome-wide analysis of serum platinum levels after cisplatin-based chemotherapy

Trendowski, M. R., El-Charif, O., Ratain, M. J., Monahan, P., Mu, Z., Wheeler, H. E., Dinh, P. C., Feldman, D. R., Ardeshir-Rouhani-Fard, S., Hamilton, R. J., Vaughn, D. J., Fung, C., Kollmannsberger, C., Mushiroda, T., Kubo, M., Hannigan, R., Strathmann, F., Einhorn, L. H., Fossa, S. D., Travis, L. B. & 1 others, Eileen Dolan, M., 01-10-2019, In : Clinical Cancer Research. 25, 19, p. 5913-5924 12 p.

Research output: Contribution to journalArticle

Platinum
Cisplatin
Genome
Drug Therapy
Serum

Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion

Tokyo Children’s Cancer Study Group (TCCSG), 01-01-2019, In : Haematologica. 104, 1, p. 128-137 10 p.

Research output: Contribution to journalArticle

B-Lymphoid Precursor Cells
Gene Fusion
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
CD5 Antigens

Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project

Hikino, K., Ozeki, T., Koido, M., Terao, C., Kamatani, Y., Murakami, Y., Kubo, M. & Mushiroda, T., 01-12-2019, In : Journal of Human Genetics. 64, 12, p. 1195-1202 8 p.

Research output: Contribution to journalArticle

irinotecan
Drug-Related Side Effects and Adverse Reactions
Japan
Population
Odds Ratio
2 Citations (Scopus)

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

Kosugi, S., Momozawa, Y., Liu, X., Terao, C., Kubo, M. & Kamatani, Y., 03-06-2019, In : Genome Biology. 20, 1, 117.

Research output: Contribution to journalArticle

Open Access
genome
Genome
range size
detection
evaluation

Deep sequencing across germline genome-wide association study signals relating to breast cancer events in women receiving aromatase inhibitors for adjuvant therapy of early breast cancer

Ingle, J. N., Kalari, K. R., Momozawa, Y., Kubo, M., Furukawa, Y., Shepherd, L. E., Ellis, M. J., Goss, P. E., Barman, P., Carlson, E. E., Sinnwell, J. P., Tang, X., Goetz, M. P., Chen, B. E., Cairns, J., Weinshilboum, R. M. & Wang, L., 01-10-2019, In : Pharmacogenetics and genomics. 29, 8, p. 183-191 9 p.

Research output: Contribution to journalArticle

High-Throughput Nucleotide Sequencing
Aromatase Inhibitors
Genome-Wide Association Study
Single Nucleotide Polymorphism
Breast Neoplasms

Diabetes and cancer risk: A Mendelian randomization study

Goto, A., Yamaji, T., Sawada, N., Momozawa, Y., Kamatani, Y., Kubo, M., Shimazu, T., Inoue, M., Noda, M., Tsugane, S. & Iwasaki, M., 01-01-2019, In : International Journal of Cancer.

Research output: Contribution to journalArticle

Open Access
Random Allocation
Confidence Intervals
Neoplasms
Type 2 Diabetes Mellitus
Mendelian Randomization Analysis
1 Citation (Scopus)

Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data

Kishikawa, T., Momozawa, Y., Ozeki, T., Mushiroda, T., Inohara, H., Kamatani, Y., Kubo, M. & Okada, Y., 01-12-2019, In : Scientific reports. 9, 1, 1784.

Research output: Contribution to journalArticle

Open Access
Genome
Software
Alleles
Cost-Benefit Analysis
Single Nucleotide Polymorphism

Evaluation of a weighted genetic risk score for the prediction of biomarkers of CYP2A6 activity

El-Boraie, A., Taghavi, T., Chenoweth, M. J., Fukunaga, K., Mushiroda, T., Kubo, M., Lerman, C., Nollen, N. L., Benowitz, N. L. & Tyndale, R. F., 01-01-2019, In : Addiction Biology.

Research output: Contribution to journalArticle

Nicotine
Biomarkers
Cotinine
Phenotype
Smoking

Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population

Sakaue, S., Akiyama, M., Hirata, M., Matsuda, K., Murakami, Y., Kubo, M., Kamatani, Y. & Okada, Y., 01-01-2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Open Access
Alleles
Genotype
Mortality
Population
Survival Analysis
4 Citations (Scopus)

Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population

Hirata, J., Hosomichi, K., Sakaue, S., Kanai, M., Nakaoka, H., Ishigaki, K., Suzuki, K., Akiyama, M., Kishikawa, T., Ogawa, K., Masuda, T., Yamamoto, K., Hirata, M., Matsuda, K., Momozawa, Y., Inoue, I., Kubo, M., Kamatani, Y. & Okada, Y., 01-03-2019, In : Nature Genetics. 51, 3, p. 470-480 11 p.

Research output: Contribution to journalArticle

HLA Antigens
Phenotype
Population
Genes
Genome-Wide Association Study
1 Citation (Scopus)

Genome-wide association analysis of common genetic variants of resistant hypertension

on behalf of eMERGE network, 01-06-2019, In : Pharmacogenomics Journal. 19, 3, p. 295-304 10 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Hypertension
Odds Ratio
trandolapril
Hispanic Americans
2 Citations (Scopus)

Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol

Brackman, D. J., Yee, S. W., Enogieru, O. J., Shaffer, C., Ranatunga, D., Denny, J. C., Wei, W. Q., Kamatani, Y., Kubo, M., Roden, D. M., Jorgenson, E. & Giacomini, K. M., 01-01-2019, In : Clinical Pharmacology and Therapeutics.

Research output: Contribution to journalArticle

Allopurinol
Genome-Wide Association Study
Pharmacology
Oxypurinol
Uric Acid

Genome-wide association studies identify polygenic effects for completed suicide in the Japanese population

Otsuka, I., Akiyama, M., Shirakawa, O., Okazaki, S., Momozawa, Y., Kamatani, Y., Izumi, T., Numata, S., Takahashi, M., Boku, S., Sora, I., Yamamoto, K., Ueno, Y., Toda, T., Kubo, M. & Hishimoto, A., 01-11-2019, In : Neuropsychopharmacology. 44, 12, p. 2119-2124 6 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Suicide
Population
Single Nucleotide Polymorphism
Japan
1 Citation (Scopus)

Genome-wide association study of cervical cancer suggests a role for ARRDC3 gene in human papillomavirus infection

Takeuchi, F., Kukimoto, I., Li, Z., Li, S., Li, N., Hu, Z., Takahashi, A., Inoue, S., Yokoi, S., Chen, J., Hang, D., Kuroda, M., Matsuda, F., Mizuno, M., Mori, S., Wu, P., Tanaka, N., Matsuo, K., Kamatani, Y., Kubo, M. & 2 others, Ma, D. & Shi, Y., 15-01-2019, In : Human molecular genetics. 28, 2, p. 341-348 8 p.

Research output: Contribution to journalArticle

Arrestin
Papillomavirus Infections
Genome-Wide Association Study
Uterine Cervical Neoplasms
Single Nucleotide Polymorphism
4 Citations (Scopus)

Genomic Heterogeneity Within Individual Prostate Cancer Foci Impacts Predictive Biomarkers of Targeted Therapy

VanderWeele, D. J., Finney, R., Katayama, K., Gillard, M., Paner, G., Imoto, S., Yamaguchi, R., Wheeler, D., Lack, J., Cam, M., Pontier, A., Nguyen, Y. T. M., Maejima, K., Sasaki-Oku, A., Nakano, K., Tanaka, H., Vander Griend, D., Kubo, M., Ratain, M. J., Miyano, S. & 1 others, Nakagawa, H., 01-05-2019, In : European Urology Focus. 5, 3, p. 416-424 9 p.

Research output: Contribution to journalArticle

Prostatic Neoplasms
Biomarkers
Therapeutics
Exome
Survival
1 Citation (Scopus)

GWAS analysis reveals a significant contribution of PSCA to the risk of Heliobacter pylori-induced gastric atrophy

Hishida, A., Ugai, T., Fujii, R., Nakatochi, M., Wu, M. C., Ito, H., Oze, I., Tajika, M., Niwa, Y., Nishiyama, T., Nakagawa-Senda, H., Suzuki, S., Koyama, T., Matsui, D., Watanabe, Y., Kawaguchi, T., Matsuda, F., Momozawa, Y., Kubo, M., Naito, M. & 2 others, Matsuo, K. & Wakai, K., 04-07-2019, In : Carcinogenesis. 40, 5, p. 661-668 8 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Pylorus
Atrophy
Prostate
Stomach

GWAS of five gynecologic diseases and cross-trait analysis in Japanese

Masuda, T., Low, S. K., Akiyama, M., Hirata, M., Ueda, Y., Matsuda, K., Kimura, T., Murakami, Y., Kubo, M., Kamatani, Y. & Okada, Y., 01-01-2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Open Access
Female Genital Diseases
Genome-Wide Association Study
Ovarian Neoplasms
Uterine Neoplasms
Endometriosis

GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation

Terao, C., Momozawa, Y., Ishigaki, K., Kawakami, E., Akiyama, M., Loh, P. R., Genovese, G., Sugishita, H., Ohta, T., Hirata, M., Perry, J. R. B., Matsuda, K., Murakami, Y., Kubo, M. & Kamatani, Y., 01-12-2019, In : Nature Communications. 10, 1, 4719.

Research output: Contribution to journalArticle

Open Access
blood cells
Y Chromosome
Genome-Wide Association Study
chromosomes
Chromosomes
1 Citation (Scopus)

GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture

Matoba, N., Akiyama, M., Ishigaki, K., Kanai, M., Takahashi, A., Momozawa, Y., Ikegawa, S., Ikeda, M., Iwata, N., Hirata, M., Matsuda, K., Kubo, M., Okada, Y. & Kamatani, Y., 01-05-2019, In : Nature Human Behaviour. 3, 5, p. 471-477 7 p.

Research output: Contribution to journalLetter

Genetic Loci
Genome-Wide Association Study
Smoking
Linkage Disequilibrium
Tobacco Products

HLA-C variants associated with amino acid substitutions in the peptide binding groove influence susceptibility to Kawasaki disease

Shimizu, C., Kim, J., Eleftherohorinou, H., Wright, V. J., Hoang, L. T., Tremoulet, A. H., Franco, A., Hibberd, M. L., Takahashi, A., Kubo, M., Ito, K., Tanaka, T., Onouchi, Y., Coin, L. J. M., Levin, M., Burns, J. C. & Shike, H., 01-01-2019, In : Human Immunology.

Research output: Contribution to journalArticle

HLA-C Antigens
Mucocutaneous Lymph Node Syndrome
Amino Acid Substitution
Peptides
Alleles
5 Citations (Scopus)

Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population

Suzuki, K., Akiyama, M., Ishigaki, K., Kanai, M., Hosoe, J., Shojima, N., Hozawa, A., Kadota, A., Kuriki, K., Naito, M., Tanno, K., Ishigaki, Y., Hirata, M., Matsuda, K., Iwata, N., Ikeda, M., Sawada, N., Yamaji, T., Iwasaki, M., Ikegawa, S. & 12 others, Maeda, S., Murakami, Y., Wakai, K., Tsugane, S., Sasaki, M., Yamamoto, M., Okada, Y., Kubo, M., Kamatani, Y., Horikoshi, M., Yamauchi, T. & Kadowaki, T., 01-03-2019, In : Nature Genetics. 51, 3, p. 379-386 8 p.

Research output: Contribution to journalLetter

Genome-Wide Association Study
Gene Frequency
Type 2 Diabetes Mellitus
Population
Acinar Cells

Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling

Motegi, T., Kochi, Y., Matsuda, K., Kubo, M., Yamamoto, K. & Momozawa, Y., 01-01-2019, In : Annals of the Rheumatic Diseases.

Research output: Contribution to journalArticle

Rheumatoid Arthritis
Genes
Association reactions
Cytokines
Interferons
2 Citations (Scopus)

Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis

Okazaki, S., Morimoto, T., Kamatani, Y., Kamimura, T., Kobayashi, H., Harada, K., Tomita, T., Higashiyama, A., Takahashi, J. C., Nakagawara, J., Koga, M., Toyoda, K., Washida, K., Saito, S., Takahashi, A., Hirata, M., Matsuda, K., Mochizuki, H., Chong, M., Paré, G. & 9 others, O'Donnell, M., Ago, T., Hata, J., Ninomiya, T., Dichgans, M., Debette, S., Kubo, M., Koizumi, A. & Ihara, M., 08-01-2019, In : Circulation. 139, 2, p. 295-298 4 p.

Research output: Contribution to journalLetter

RING Finger Domains
Moyamoya Disease
Disease Susceptibility
Genetic Predisposition to Disease
Atherosclerosis
3 Citations (Scopus)

Multiethnic genome-wide association study of diabetic retinopathy using liability threshold modeling of duration of diabetes and glycemic control

Family Investigation of Nephropathy and Diabetes-Eye Research Group & DCCT/EDIC Research Group, 01-02-2019, In : Diabetes. 68, 2, p. 441-456 16 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Diabetic Retinopathy
Gene Regulatory Networks
Hispanic Americans
African Americans
1 Citation (Scopus)

Novel risk loci identified in a genome-wide association study of urolithiasis in a Japanese population

Tanikawa, C., Kamatani, Y., Terao, C., Usami, M., Takahashi, A., Momozawa, Y., Suzuki, K., Ogishima, S., Shimizu, A., Satoh, M., Matsuo, K., Mikami, H., Naito, M., Wakai, K., Yamaji, T., Sawada, N., Iwasaki, M., Tsugane, S., Kohri, K., Yu, A. S. L. & 4 others, Yasui, T., Murakami, Y., Kubo, M. & Matsuda, K., 01-05-2019, In : Journal of the American Society of Nephrology. 30, 5, p. 855-864 10 p.

Research output: Contribution to journalArticle

Urolithiasis
Genome-Wide Association Study
Population
Electrolytes
Crystallization

Polygenic risk scores in schizophrenia with clinically significant copy number variants

Taniguchi, S., Ninomiya, K., Kushima, I., Saito, T., Shimasaki, A., Sakusabe, T., Momozawa, Y., Kubo, M., Kamatani, Y., Ozaki, N., Ikeda, M. & Iwata, N., 01-01-2019, (Accepted/In press) In : Psychiatry and clinical neurosciences.

Research output: Contribution to journalArticle

Open Access
Schizophrenia
Comparative Genomic Hybridization
Single Nucleotide Polymorphism
2 Citations (Scopus)

The association of obesity and coronary artery disease genes with response to SSRIs treatment in major depression

Amare, A. T., Schubert, K. O., Tekola-Ayele, F., Hsu, Y. H., Sangkuhl, K., Jenkins, G., Whaley, R. M., Barman, P., Batzler, A., Altman, R. B., Arolt, V., Brockmöller, J., Chen, C. H., Domschke, K., Hall-Flavin, D. K., Hong, C. J., Illi, A., Ji, Y., Kampman, O., Kinoshita, T. & 17 others, Leinonen, E., Liou, Y. J., Mushiroda, T., Nonen, S., Skime, M. K., Wang, L., Kato, M., Liu, Y. L., Praphanphoj, V., Stingl, J. C., Bobo, W. V., Tsai, S. J., Kubo, M., Klein, T. E., Weinshilboum, R. M., Biernacka, J. M. & Baune, B. T., 21-01-2019, In : Journal of Neural Transmission. 126, 1, p. 35-45 11 p.

Research output: Contribution to journalArticle

Serotonin Uptake Inhibitors
Coronary Artery Disease
Obesity
Depression
Genes

The lncRNA MIR2052HG regulates ERα levels and aromatase inhibitor resistance through LMTK3 by recruiting EGR1

Cairns, J., Ingle, J. N., Kalari, K. R., Shepherd, L. E., Kubo, M., Goetz, M. P., Weinshilboum, R. M. & Wang, L., 03-04-2019, In : Breast Cancer Research. 21, 1, 47.

Research output: Contribution to journalArticle

Open Access
Early Growth Response Protein 1
Lemur
Long Noncoding RNA
Aromatase Inhibitors
Protein-Tyrosine Kinases

The schizophrenia genetics knowledgebase: a comprehensive update of findings from candidate gene studies

Liu, C., Kanazawa, T., Tian, Y., Mohamed Saini, S., Mancuso, S., Mostaid, M. S., Takahashi, A., Zhang, D., Zhang, F., Yu, H., Doo Shin, H., Sub Cheong, H., Ikeda, M., Kubo, M., Iwata, N., Woo, S. I., Yue, W., Kamatani, Y., Shi, Y., Li, Z. & 3 others, Everall, I., Pantelis, C. & Bousman, C., 01-12-2019, In : Translational psychiatry. 9, 1, 205.

Research output: Contribution to journalArticle

Open Access
Knowledge Bases
Schizophrenia
Meta-Analysis
Genes
Single Nucleotide Polymorphism
5 Citations (Scopus)

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies

Morris, A. P., Le, T. H., Wu, H., Akbarov, A., van der Most, P. J., Hemani, G., Smith, G. D., Mahajan, A., Gaulton, K. J., Nadkarni, G. N., Valladares-Salgado, A., Wacher-Rodarte, N., Mychaleckyj, J. C., Dueker, N. D., Guo, X., Hai, Y., Haessler, J., Kamatani, Y., Stilp, A. M., Zhu, G. & 52 others, Cook, J. P., Ärnlöv, J., Blanton, S. H., de Borst, M. H., Bottinger, E. P., Buchanan, T. A., Cechova, S., Charchar, F. J., Chu, P. L., Damman, J., Eales, J., Gharavi, A. G., Giedraitis, V., Heath, A. C., Ipp, E., Kiryluk, K., Kramer, H. J., Kubo, M., Larsson, A., Lindgren, C. M., Lu, Y., Madden, P. A. F., Montgomery, G. W., Papanicolaou, G. J., Raffel, L. J., Sacco, R. L., Sanchez, E., Stark, H., Sundstrom, J., Taylor, K. D., Xiang, A. H., Zivkovic, A., Lind, L., Ingelsson, E., Martin, N. G., Whitfield, J. B., Cai, J., Laurie, C. C., Okada, Y., Matsuda, K., Kooperberg, C., Chen, Y. D. I., Rundek, T., Rich, S. S., Loos, R. J. F., Parra, E. J., Cruz, M., Rotter, J. I., Snieder, H., Tomaszewski, M., Humphreys, B. D. & Franceschini, N., 01-12-2019, In : Nature Communications. 10, 1, 29.

Research output: Contribution to journalArticle

Open Access
kidney diseases
Kidney Diseases
kidneys
Glomerular Filtration Rate
genes
2018
1 Citation (Scopus)

A genome-wide association study identifies three novel genetic markers for response to tamoxifen: A prospective multicenter study

Onishi, H., Udagawa, C., Kubo, M., Nakamura, S., Akashi-Tanaka, S., Kuwayama, T., Watanabe, C., Takamaru, T., Takei, H., Ishikawa, T., Miyahara, K., Matsumoto, H., Hasegawa, Y., Momozawa, Y., Low, S. K., Kutomi, G., Shima, H., Satomi, F., Okazaki, M., Zaha, H. & 14 others, Onomura, M., Matsukata, A., Sagara, Y., Baba, S., Yamada, A., Shimada, K., Shimizu, D., Tsugawa, K., Shimo, A., Hartman, M., Chan, C. W., Lee, S. C., Endo, I. & Zembutsu, H., 01-08-2018, In : PloS one. 13, 8, e0201606.

Research output: Contribution to journalArticle

Open Access
tamoxifen
Genome-Wide Association Study
Tamoxifen
prospective studies
Genetic Markers
6 Citations (Scopus)

A genome-wide association study in the Japanese population identifies the 12q24 locus for habitual coffee consumption: The J-MICC Study

Nakagawa-Senda, H., Hachiya, T., Shimizu, A., Hosono, S., Oze, I., Watanabe, M., Matsuo, K., Ito, H., Hara, M., Nishida, Y., Endoh, K., Kuriki, K., Katsuura-Kamano, S., Arisawa, K., Nindita, Y., Ibusuki, R., Suzuki, S., Hosono, A., Mikami, H., Nakamura, Y. & 16 others, Takashima, N., Nakamura, Y., Kuriyama, N., Ozaki, E., Furusyo, N., Ikezaki, H., Nakatochi, M., Sasakabe, T., Kawai, S., Okada, R., Hishida, A., Naito, M., Wakai, K., Momozawa, Y., Kubo, M. & Tanaka, H., 01-12-2018, In : Scientific reports. 8, 1, 1493.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Coffee
Japan
Cohort Studies
Population
21 Citations (Scopus)

A genome-wide association study of diabetic kidney disease in subjects with type 2 diabetes

Van Zuydam, N. R., Ahlqvist, E., Sandholm, N., Deshmukh, H., William Rayner, N., Abdalla, M., Ladenvall, C., Ziemek, D., Fauman, E., Robertson, N. R., McKeigue, P. M., Valo, E., Forsblom, C., Harjutsalo, V., Perna, A., Rurali, E., Loredana Marcovecchio, M., Igo, R. P., Salem, R. M., Perico, N. & 578 others, Lajer, M., Käräjämäki, A., Imamura, M., Kubo, M., Takahashi, A., Sim, X., Liu, J., Van Dam, R. M., Jiang, G., Tam, C. H. T., Luk, A. O. Y., Lee, H. M., Lim, C. K. P., Szeto, C. C., So, W. Y., Chan, J. C. N., Ang, S. F., Dorajoo, R., Wang, L., Clara, T. S. H., McKnight, A. J., Duffy, S., Warren, Pezzolesi, M. G., Marre, M., Gyorgy, B., Hadjadj, S., Hiraki, L. T., Ahluwalia, T. S., Almgren, P., Schulz, C. A., Orho-Melander, M., Linneberg, A., Christensen, C., Witte, D. R., Grarup, N., Brandslund, I., Melander, O., Paterson, A. D., Tregouet, D., Maxwell, A. P., Lim, S. C., Ma, R. C. W., Shyong Tai, E., Maeda, S., Lyssenko, V., Tuomi, T., Krolewski, A. S., Rich, S. S., Hirschhorn, J. N., Florez, J. C., Dunger, D., Pedersen, O., Hansen, T., Rossing, P., Remuzzi, G., Brosnan, M. J., Palmer, C. N. A., Groop, P. H., Colhoun, H. M., Groop, L. C., McCarthy, M. I., Koivula, S., Uggeldahl, T., Forslund, T., Halonen, A., Koistinen, A., Koskiaho, P., Laukkanen, M., Saltevo, J., Tiihonen, M., Forsen, M., Granlund, H., Jonsson, A. C., Nyroos, B., Kinnunen, P., Orvola, A., Salonen, T., Vähänen, A., Paldanius, K. R., Riihelä, M., Ryysy, L., Laukkanen, K. H., Nyländen, P., Sademies, A., Anderson, S., Asplund, B., Byskata, U., Liedes, P., Kuusela, M., Virkkala, T., Nikkola, A., Ritola, E., Niska, T. M., Saarinen, H., Oukko-Ruponen, S. E., Virtanen, T., Lyytinen, V. A., Kari, P. H., Simonen, T., Kaprio, S. A., Kärkkäinen, J., Rantaeskola, B., Kääriäinen, T. P., Haaga, J., Pietiläinen, A. L., Klemetti, S., Nyandoto, T., Rontu, E., Satuli-Autere, S., Toivonen, K. R., Lansimaki, H. V., Ahonen, R., Ivaska-Suomela, M., Jauhiainen, A., Laine, M. M., Pellonpää, T., Puranen, R., Airas, M. A., Laakso, J., Rautavaara, K., Erola, R. M., Jatkola, E., Lönnblad, T. R., Malm, A., Mäkelä, J., Rautamo, E., Hentunen, P., Lagerstam, J., Feodoroff, M., Gordin, D., Heikkilä, O., Hietala, K., Fagerudd, J., Korolainen, M., Kyllönen, L., Kytö, J., Lindh, S., Pettersson-Fernholm, K., Rosengård-Bärlund, M., Sandelin, A., Thorn, L., Tuomikangas, J., Vesisenaho, T., Wadén, J., Sipilä, V., Kalliomäki, F. T., Koskelainen, J., Nikkanen, R., Savolainen, N., Sulonen, H., Valtonen, E., Norvio, L., Hämäläinen, A., Toivanen, E., Parta, J. A., Pirttiniemi, I., Aranko, S., Ervasti, S., Kauppinen-Mäkelin, R., Kuusisto, A., Leppälä, T., Nikkilä, K., Pekkonen, L., Jokelainen, K. S., Kananen, K., Karjalainen, M., Kemppainen, P., Mankinen, A. M., Reponen, A., Sankari, M., Suominen, P., Lappalainen, A., Liimatainen, M., Santaholma, J., Aimolahti, A., Huovinen, E., Ilkka, V., Lehtimäki, M., Pälikkö-Kontinen, E., Vanhanen, A., Koskinen, E., Siitonen, T., Huttunen, E., Ikäheimo, R., Karhapää, P., Kekäläinen, P., Laakso, M., Lakka, T., Lampainen, E., Moilanen, L., Tanskanen, S., Niskanen, L., Tuovinen, U., Vauhkonen, I., Voutilainen, E., Huang, Y., Lan, H. Y., Lok, S., Tomlinson, B., Tsui, S. K. W., Yu, W., Yip, K. Y. L., Chan, T. F., Fan, X., Tang, N., Tian, X., Chan, K. K. H., Xie, F., Ng, A. C. W., Cheung, G. P. Y., Yeung, M. W., Mai, S., Xie, F., Zhang, S., Yu, P., Weng, M., Savage, D. A., Walker, J., Thomas, S., Viberti, G. C., Boulton, A. J. M., Marshall, S., Demaine, A. G., Millward, B. A., Bain, S. C., Mäkinen, V. P., Ahola, A. J., Dahlström, E., Gordin, D., Heikkilä, O., Hietala, K., Kytö, J., Lehto, M., Lithovius, R., Panduru, N. M., Parkkonen, M., Rosengård-Bärlund, M., Saraheimo, M., Söderlund, J., Soro-Paavonen, A., Syreeni, A., Thorn, L. M., Tolonen, N., Wadén, J., McKay, G. J., Isakova, T., Guiducci, C., Taylor, A., Mirel, D. B., Williams, W. W., Brennan, E. P., Sadlier, D. M., Martin, F., Godson, C., Mayer, L., Gubitosi-Klug, R., Bourne, P., Schutta, M., Lackaye, M. E., Gregory, N. S., Kruger, D., Jones, J. K., Bhan, A., Golden, E., Aiello, L., Larkin, M., Nathan, D., Ziegler, G., Caulder, S., Pittman, C., Luttrell, L., Lopes-Virella, M., Johnson, M., Gunyou, K., Bergenstal, R., Vittetoe, B., Sivitz, W., Flaherty, N., Bantle, J., Hitt, S., Goldstein, D., Hainsworth, D., Cimino, L., Orchard, T., Wigley, C., Dagogo-Jack, S., Strowig, S., Raskin, P., Barnie, A., Zinman, B., Fahlstrom, R., Palmer, J., Harth, J., Driscoll, M., McDonald, C., Lipps Hagan, J., May, M., Levandoski, L., White, N., Gatcomb, P., Tamborlane, W., Adelman, D., Colson, S., Molitch, M., Lorenzi, G., Mudaliar, S., Johnsonbaugh, S., Miller, R., Canady, J., Schade, D., Bernal, M. L., Malone, J., Morrison, A., Martin, C., Herman, W., Pop-Busui, R., Cowie, C., Leschek, E., Cleary, P., Lachin, J., Zinman, B., Lorenzi, G., Braffett, B., Steffes, M., Arends, V., Blodi, B., Danis, R., Lawrence, D., Wabers, H., Soliman, E., Zhang, Z. M., Campbell, C., Hensley, S., Keasler, L., Mark, M., Albertini, M., Boustany, C., Ehlgen, A., Gerl, M., Huber, J., Schölch, C., Zimdahl-Gelling, H., Agardh, E., Ajanki, T., Al Maghrabi, N., Apelqvist, J., Bengtsson, E., Berglund, L., Björckbacka, H., Blom-Nilsson, U., Borell, M., Burström, A., Cilio, C., Cinthio, M., Dreja, K., Dunér, P., Engelbertsen, D., Fadista, J., Gomez, M., Goncalves, I., Hedblad, B., Hultgårdh, A., Johansson, M. E., Kennbäck, C., Kravic, J., Lernmark, A., Lindholm, E., Ling, C., Luthman, H., Neptin, M., Nilsson, J., Nilsson, P., Nilsson, T., Nordin, G., Ottoson-Laakso, E., Persson, A., Persson, M., Persson, M. A., Postma, J., Pranter, E., Rattik, S., Sterner, G., Tindberg, L., Wigren, M., Zetterqvist, A., Åkerlund, M., Ostling, G., Kanninen, T., Ahonen-Bishopp, A., Eliasson, A., Herrala, T., Tikka-Kleemola, P., Hamsten, A., Betsholtz, C., Björkholm, A., Foroogh, F., Genové, G., Gertow, K., Gigante, B., He, B., Leander, K., McLeod, O., Nastase-Mannila, M., Patrakka, J., Silveira, A., Strawbridge, R., Tryggvason, K., Vikström, M., Ohrvik, J., Österholm, A. M., Thorand, B., Gieger, C., Grallert, H., Ludwig, T., Nitz, B., Schneider, A., Wang-Sattler, R., Zierer, A., Benigni, A., Donadelli, R., Lesti, M. D., Noris, M., Piras, R., Ruggenenti, P., Chassin, L., Dalton, N., Deanfield, J., Horsford, J., Rice, C., Rudd, J., Walker, N., Whitehead, K., Wong, M., Adams, F., Akbar, T., Belch, J., Dove, F., Ellingford, A., Farran, B., Ferguson, M., Henderson, G., Houston, G., Khan, F., Leese, G., Livingstone, S., Looker, H., McCann, M., McGurnaghan, S., Morris, A., Newton, D., Pearson, E., Reekie, G., Smith, N., Shore, A., Aizawa, K., Ball, C., Bellenger, N., Casanova, F., Frayling, T., Gates, P., Gooding, K., Hattersley, A., Ling, R., Mawson, D., Shandas, R., Strain, D., Thorn, C., Smith, U., Hammarstedt, A., Häring, H., Sesti, G., Fagerholm, E., Parkkonen, M., Tolonen, N., Toppila, I., Salomaa, V., Havulinna, A., Kristiansson, K., Okamo, P., Peltola, T., Perola, M., Pietilä, A., Ripatti, S., Taimi, M., Ylä-Herttuala, S., Babu, M., Dijkstra, M., Gurzeler, E., Huusko, J., Kholová, I., Laakso, M., Merentie, M., Poikolainen, M., Groves, C., Juliusdottir, T., Karpe, F., Lagou, V., Morris, A., Cobelli, C., Di Camillo, B., Finotello, F., Sambo, F., Toffolo, G., Trifoglio, E., Bellazzi, R., Barbarini, N., Bucalo, M., Larizza, C., Magni, P., Malovini, A., Marini, S., Mulas, F., Quaglini, S., Sacchi, L., Vitali, F., Ferrannini, E., Boldrini, B., Kozakova, M., Mari, A., Morizzo, C., Mota, L., Natali, A., Palombo, C., Venturi, E., Walker, M., Patrono, C., Pagliaccia, F., Rocca, B., Nuutila, P., Haukkala, J., Knuuti, J., Roivainen, A., Saraste, A., McKeague, P., Colombo, M., Steckel-Hamann, B., Bokvist, K., Shankar, S., Thomas, M., Gan, L. M., Heinonen, S., Jönsson-Rylander, A. C., Momo, R., Schnecke, V., Unwin, R., Walentinsson, A., Whatling, C., Nogoceke, E., Pacheco, G. D., Formentini, I., Schindler, T., Tortoli, P., Bassi, L., Boni, E., Dallai, A., Guidi, F., Lenge, M., Matera, R., Ramalli, A., Ricci, S., Viti, J., Jablonka, B., Crowther, D., Gassenhuber, J., Hess, S., Hubschle, T., Juretschke, H. P., Rutten, H., Sadowski, T., Wohlfart, P., Clerin, V., Hyde, C., Malarstig, A., Pullen, N., Tilley, M., Tuthill, T. & Vangjeli, C., 01-07-2018, In : Diabetes. 67, 7, p. 1414-1427 14 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Diabetic Nephropathies
Type 2 Diabetes Mellitus
Phenotype
Glomerular Filtration Rate
11 Citations (Scopus)

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

The CHARGE Neurology Working Group, The COGENT-Kidney Consortium, The GIANT Consortium & Lifelines Cohort Study, 01-03-2018, In : American Journal of Human Genetics. 102, 3, p. 375-400 26 p.

Research output: Contribution to journalArticle

Smoking
Genome
Blood Pressure
Genome-Wide Association Study
Blood Vessels
1 Citation (Scopus)

Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn's disease in Asians

Han, B., Akiyama, M., Kim, K. K., Oh, H., Choi, H., Lee, C. H., Jung, S., Lee, H. S., Kim, E. E., Cook, S., Haritunians, T., Yamazaki, K., Park, S. H., Ye, B. D., McGovern, D. P. B., Esaki, M., Kawaguchi, T., Khor, S. S., Taylor, K. D., Rotter, J. I. & 12 others, Suzuki, Y., Matsui, T., Motoya, S., Bang, S. Y., Kim, T. H., Momozawa, Y., Kamatani, Y., Tokunaga, K., Kubo, M., Okada, Y., Yang, S. K. & Song, K., 01-11-2018, In : Human molecular genetics. 27, 22, p. 3901-3910 10 p.

Research output: Contribution to journalArticle

HLA Antigens
Crohn Disease
Amino Acids
Ulcerative Colitis
Inflammatory Bowel Diseases
4 Citations (Scopus)

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

Japan Scoliosis Clinical Research Group (JSCRG) & Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), 01-12-2018, In : Scientific reports. 8, 1, 11575.

Research output: Contribution to journalArticle

Open Access
Scoliosis
Meta-Analysis
Genome-Wide Association Study
Far East
Computer Simulation
14 Citations (Scopus)

Association of HLA-A*31:01 Screening with the incidence of carbamazepine-induced cutaneous adverse reactions in a Japanese population

GENCAT Study Group, 01-07-2018, In : JAMA Neurology. 75, 7, p. 842-849 8 p.

Research output: Contribution to journalArticle

Carbamazepine
Drug-Related Side Effects and Adverse Reactions
Skin
Incidence
Population
3 Citations (Scopus)

Association of the polygenic scores for personality traits and response to selective serotonin reuptake inhibitors in patients with major depressive disorder

Amare, A. T., Schubert, K. O., Tekola-Ayele, F., Hsu, Y. H., Sangkuhl, K., Jenkins, G., Whaley, R. M., Barman, P., Batzler, A., Altman, R. B., Arolt, V., Brockmöller, J., Chen, C. H., Domschke, K., Hall-Flavin, D. K., Hong, C. J., Illi, A., Ji, Y., Kampman, O., Kinoshita, T. & 17 others, Leinonen, E., Liou, Y. J., Mushiroda, T., Nonen, S., Skime, M. K., Wang, L., Kato, M., Liu, Y. L., Praphanphoj, V., Stingl, J. C., Bobo, W. V., Tsai, S. J., Kubo, M., Klein, T. E., Weinshilboum, R. M., Biernacka, J. M. & Baune, B. T., 06-03-2018, In : Frontiers in Psychiatry. 9, MAR, 65.

Research output: Contribution to journalArticle

Major Depressive Disorder
Serotonin Uptake Inhibitors
Personality
Genome-Wide Association Study
Meta-Analysis
11 Citations (Scopus)

Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: Metabolomics-informed genomics

Liu, D., Ray, B., Neavin, D. R., Zhang, J., Athreya, A. P., Biernacka, J. M., Bobo, W. V., Hall-Flavin, D. K., Skime, M. K., Zhu, H., Jenkins, G. D., Batzler, A., Kalari, K. R., Boakye-Agyeman, F., Matson, W. R., Bhasin, S. S., Mushiroda, T., Nakamura, Y., Kubo, M., Iyer, R. K. & 4 others, Wang, L., Frye, M. A., Kaddurah-Daouk, R. & Weinshilboum, R. M., 01-12-2018, In : Translational psychiatry. 8, 1, 56.

Research output: Contribution to journalArticle

beta-Defensins
Kynurenine
Aryl Hydrocarbon Receptors
Metabolomics
Major Depressive Disorder
2 Citations (Scopus)

Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese

Tajima, T., Morita, H., Ito, K., Yamazaki, T., Kubo, M., Komuro, I. & Momozawa, Y., 01-12-2018, In : Scientific reports. 8, 1, 8107.

Research output: Contribution to journalArticle

Age of Onset
Myocardial Infarction
Lipids
LDL Cholesterol
Hypercholesterolemia
14 Citations (Scopus)

Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility

Tanikawa, C., Ueda, K., Suzuki, A., Iida, A., Nakamura, R., Atsuta, N., Tohnai, G., Sobue, G., Saichi, N., Momozawa, Y., Kamatani, Y., Kubo, M., Yamamoto, K., Nakamura, Y. & Matsuda, K., 06-02-2018, In : Cell Reports. 22, 6, p. 1473-1483 11 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Field effect transistors
Agglomeration
RNA-Binding Protein FUS
Proteins