Unique roles of rare variants in the genetics of complex diseases in humans.
Momozawa Y, Mizukami K; J Hum Genet 66:11-23, 2021
DOI:
10.1038/s10038-020-00845-2
Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis.
Saiki R, Momozawa Y, Nannya Y, Nakagawa MM, Ochi Y, Yoshizato T, et al.; Nat Med 27:1239-1249, 2021
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10.1038/s41591-021-01411-9
日本語解説:
AMEDプレスリリース
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.
Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, et al.; Nat Genet 53:65-75, 2021
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10.1038/s41588-020-00748-0
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
Vosa U, Claringbould A, Westra HJ, Bonder MJ, Deelen P, Zeng B, et al.; Nat Genet 53:1300-1310, 2021
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10.1038/s41588-021-00913-z
Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.
Murakami Y, Koyanagi Y, Fukushima M, Yoshimura M, Fujiwara K, Akiyama M, et al.; Ophthalmol Retina, 2021
DOI:
10.1016/j.oret.2021.02.009
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, et al.; Jpn J Ophthalmol, 2021
DOI:
10.1007/s10384-021-00824-w
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
Nishiguchi KM, Miya F, Mori Y, Fujita K, Akiyama M, Kamatani T, et al.; Commun Biol 4:140, 2021
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10.1038/s42003-021-01662-9
Relationship of Hemoglobin Level and Plasma Coproporphyrin-I Concentrations as an Endogenous Probe for Phenotyping OATP1B.
Suzuki Y, Sasamoto Y, Koyama T, Yoshijima C, Oda A, Nakatochi M, et al.; Clin Transl Sci, 2021
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10.1111/cts.12996
A genome-wide association study on confection consumption in a Japanese population: the Japan Multi-Institutional Collaborative Cohort Study.
Suzuki T, Nakamura Y, Doi Y, Narita A, Shimizu A, Imaeda N, et al.; Br J Nutr:1-9, 2021
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10.1017/S0007114521000684
Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium.
Lin BM, Grinde KE, Brody JA, Breeze CE, Raffield LM, Mychaleckyj JC, et al.; EBioMedicine 63:103157, 2021
DOI:
10.1016/j.ebiom.2020.103157
Genome-wide association study of serum prostate-specific antigen levels based on 1000 Genomes imputed data in Japanese: the Japan Multi-Institutional Collaborative Cohort Study.
Hishida A, Nakatochi M, Tamura T, Nagayoshi M, Okada R, Kubo Y, et al.; Nagoya J Med Sci 83:183-194, 2021
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10.18999/nagjms.83.1.183
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, et al.; Nat Commun 12:1258, 2021
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10.1038/s41467-020-20851-4
Assessing the relationship between high-sensitivity C-reactive protein and kidney function employing mendelian randomization in a Japanese community based J-MICC Study.
Fujii R, Hishida A, Nishiyama T, Nakatochi M, Matsuo K, Ito H, et al.; J Epidemiol, 2021
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10.2188/jea.JE20200540
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano C, Iida A, Kosugi S, Momozawa Y, Terao C, Ishikawa K, et al.; Am J Med Genet A, 2021
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10.1002/ajmg.a.62138
Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive acute myeloid leukemia.
Hashimoto M, Saito Y, Nakagawa R, Ogahara I, Takagi S, Takata S, et al.; Nature Cancer 2:340–356, 2021
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10.1038/s43018-021-00177-w
日本語解説:
理研プレスリリース
Comprehensive Analysis of Risk Factors for Periodontitis Focusing on the Saliva Microbiome and Polymorphism.
Toyama N, Ekuni D, Matsui D, Koyama T, Nakatochi M, Momozawa Y, et al.; Int J Environ Res Public Health 18, 2021
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10.3390/ijerph18126430
日本語解説:
岡山大学プレスリリース
Eight novel susceptibility loci and putative causal variants in atopic dermatitis.
Tanaka N, Koido M, Suzuki A, Otomo N, Suetsugu H, Kochi Y, et al.; J Allergy Clin Immunol 148:1293-1306, 2021
DOI:
10.1016/j.jaci.2021.04.019
日本語解説:
理研プレスリリース
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, et al.; J Hum Genet, 2021
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10.1038/s10038-021-00980-4
Genome-wide association study of epilepsy in a Japanese population identified an associated region at chromosome 12q24.
Suzuki T, Koike Y, Ashikawa K, Otomo N, Takahashi A, Aoi T, et al.; Epilepsia 62:1391-1400, 2021
DOI:
10.1111/epi.16911
日本語解説:
理研プレスリリース
A genome-wide association study on meat consumption in a Japanese population: the Japan Multi-Institutional Collaborative Cohort study.
Nakamura Y, Narita A, Sutoh Y, Imaeda N, Goto C, Matsui K, et al.; J Nutr Sci 10:e61, 2021
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10.1017/jns.2021.49
Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas.
Dawed AY, Yee SW, Zhou K, van Leeuwen N, Zhang Y, Siddiqui MK, et al.; Diabetes Care, 2021
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10.2337/dc21-1152
Population-Based Impact of Smoking, Drinking, and Genetic Factors on HDL-Cholesterol Levels in J-MICC Study Participants.
Nindita Y, Nakatochi M, Ibusuki R, Shimoshikiryo I, Nishimoto D, Shimatani K, et al.; J Epidemiol, 2021
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10.2188/jea.je20210142
An X chromosome-wide meta-analysis based on Japanese cohorts revealed that non-autosomal variations are associated with serum urate.
Nakatochi M, Toyoda Y, Kanai M, Nakayama A, Kawamura Y, Hishida A, et al.; Rheumatology (Oxford) 60:4430-4432, 2021
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10.1093/rheumatology/keab404
Polygenic Risk Score of Adolescent Idiopathic Scoliosis for Potential Clinical Use
Otomo N, Lu H, Koido M, Kou I, Takeda K, Momozawa Y, et al.; J Bone Miner Res 36:1481-1491, 2021
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10.1002/jbmr.4324
Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias: genetics in inguinal hernias
Hikino K, Koido M, Tomizuka K, Liu X, Momozawa Y, Morisaki T, et al.; EBioMedicine 71:103564, 2021
DOI:
10.1016/j.ebiom.2021.103532
