Asselta R, Paraboschi EM, Gerussi A, Cordell HJ, Mells GF, Sandford RN, Jones DE, Nakamura M, Ueno K, Hitomi Y, Kawashima M, Nishida N, Tokunaga K, Nagasaki M, Tanaka A, Tang R, Li Z, Shi Y, Liu X, Xiong M, Hirschfield G, Siminovitch KA; Canadian-US PBC Consortium; Italian PBC Genetics Study Group; UK-PBC Consortium; Japan PBC-GWAS Consortium, Carbone M, Cardamone G, Duga S, Gershwin ME, Seldin MF, and Invernizzi P. X chromosome contribution to the genetic architecture of primary biliary cholangitis. Gastroenterology 160(7): 2483-2495, 2021.

Nishida N, Sugiyama M, Ohashi J, Kawai Y, Khor SS, Nishina S, Yamasaki K, Yazaki H, Okudera K, Tamori A, Eguchi Y, Sakai A, Kakisaka K, Sawai H, Tsuchiura T, Ishikawa M, Hino K, Sumazaki R, Takikawa Y, Kanda T, Yokosuka O, Yatsuhashi H, Tokunaga K, and Mizokami M. Importance of HBsAg recognition by HLA molecules as revealed by responsiveness to different hepatitis B vaccines. Sci. Rep. 11(1): e3703, 2021.

Hitomi Y, Aiba Y, Kawai Y, Kojima K, Ueno K, Nishida N, Kawashima M, Gervais O, Khor SS, Nagasaki M, Tokunaga K, Nakamura M, and Tsuiji M. rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis. Sci. Rep. 11(1): e4557, 2021.

Kawai Y, Hitomi Y, Ueta M, Khor SS, Nakatani K, Sotozono C, Kinoshita S, Nagasaki M, and Tokunaga K. Mapping of susceptible variants for cold medicine-related Stevens-Johnson syndrome by whole-genome resequencing. NPJ Genom. Med. 6(1): e9, 2021.

Namkoong H, Omae Y, Asakura T, Ishii M, Suzuki S, Morimoto K, Kawai Y, Emoto K, Oler AJ, Szymanski EP, Yoshida M, Matsuda S, Yagi K, Hase I, Nishimura T, Sasaki Y, Asami T, Shiomi T, Matsubara H, Shimada H, Hamamoto J, Jhun BW, Kim SY, Huh HJ, Won HH, Ato M, Kosaki K, Betsuyaku T, Fukunaga K, Kurashima A, Tettelin H, Yanai H, Mahasirimongkol S, Olivier KN, Hoshino Y, Koh WJ, Holland SM, Tokunaga K, and Hasegawa N. Genome-wide association study in patients with pulmonary Mycobacterium avium complex disease. Eur Respir.J. 58(2): 1902269, 2021.

Hirayasu K, Sun J, Hasegawa G, Hashikawa Y, Hosomichi K, Tajima A, Tokunaga K, Ohashi J, and Hanayama R. Characterization of LILRB3 and LILRA6 allelic variants in the Japanese population. J. Hum. Genet. 66(7): 739-748, 2021.

Suzuki K, Kakuta Y, Naito T, Takagawa T, Hanai H, Araki H, Sasaki Y, Sakuraba H, Sasaki M, Hisamatsu T, Motoya S, Matsumoto T, Onodera M, Ishiguro Y, Nakase H, Akira Andoh, Sakiko Hiraoka, Masaru Shinozaki, Toshimitsu Fujii, Katsurada T, Kobayashi T, Fujiya M, Otsuka T, Oshima N, Suzuki Y, Sato Y, Hokari R, Noguchi M, Ohta Y, Matsuura M, Kawai Y, Tokunaga K, Nagasaki M, Kudo H, Minegishi N, Okamoto D, ShimoyamaY, Moroi R, Kuroha M, Shiga H, Li D, McGovern DPB, Kinouchi Y, Masamune A, and MENDEL study group. Genetic background of mesalamine-induced fever and diarrhea in Japanese patients with inflammatory bowel disease. Inflamm. Bowel Dis. 2021 Jan, Epub ahead of print.

Jinam T, Kamatani Y, Sonoda S, Makisumi K, Sameshima H, Tokunaga K, Kawai Y, and Saitou N. Genome-wide SNP data of Izumo and Makurazaki populations support Inner-Dual Structure model for Yamato people. J. Hum. Genet. 66(7): 681-687, 2021.

Ma KS, Chung WH, Hsueh YJ, Chen SY, Tokunaga K, Kinoshita S, Ma DHK, and Ueta M. Human leucocyte antigen association of patients with Stevens-Johnson syndrome/toxic epidermal necrolysis with severe ocular complications in Han Chinese. Br. J. Ophthalmol. 2021 Jan, Epub ahea of print.

Yuliwulandari R, Prayuni K, Razari I, Susilowati RW, Zulhamidah Y, Soedarsono S, Sofro ASM, and Tokunaga K. Genetic characterization of N-acetyltransferase 2 variants in acquired multidrug-resistant tuberculosis in Indonesia. Pharmacogenomics 22(3): 157-163, 2021.

Tantivitayakul P, Juthayothin T, Ruangchai W, Smittipat N, Disratthakit A, Mahasirimongkol S, Tokunaga K, and Palittapongarnpim P. Identification and in silico functional prediction of lineage-specific SNPs distributed in DosR-related proteins and resuscitation-promoting factor proteins of Mycobacterium tuberculosis. Heliyon 6(12): e05744, 2020.

Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, and Ogi T. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Sci. Adv. 6(51): eabd7197, 2020.

Soedarsono S, Amin M, Tokunaga K, Yuliwulandari R, Suameitria Dewi DNS, Mertaniasih NM. Association of disease severity with toll-like receptor polymorphisms in multidrug-resistant tuberculosis patients. Int J Mycobacteriol. 9(4): 380-390, 2020.

Higgins J, Dalgleish R, den Dunnen JT, Barsh G, Freeman PJ, Cooper DN, Cullinan S, Davies KE, Dorkins H, Gong L, Imoto I, Klein TE, Korf B, Misra A, Paalman MH, Ratzel S, Reichardt JKV, Rehm HL, Tokunaga K, Weck KE, and Cutting GR. Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for Journals. Hum. Mutat. 42(1): 3-7, 2021.

Tanjo T, Kawai Y, Tokunaga K, Ogasawara O and Nagasaki M. Practical guide for managing large-scale human genome data in research. J. Hum. Genet. 66(1): 39-52, 2021.

Miyahara R, Smittipat N, Juthayothin T, Yanai H, Disratthakit A, Imsanguan W, Intralawan D, Nedsuwan S, Chaiyasirinroje B, Bupachat S, Tokunaga K, Mahasirimongkol S, and Palittapongarnpim P. Risk factors associated with large clusters of tuberculosis patients determined by whole-genome sequencing in a high-tuberculosis-burden country. Tuberculosis 125: 101991, 2020.

Yoshida K, Yokota K, Kutswada Y, Nakayama K, Watanabe K, Matsumoto A, Miyashita H, Khor SS, Tokunaga K, and Nagasaki M. Genome-wide association study of lean non-alcoholic fatty liver disease suggests HLA as a novel candidate locus. Hepatol. Commun. 4(8): 1124-1135, 2020.

Kakuta Y, Ichikawa R, Fuyuno Y, Hirano A, Umeno J, Torisu T, Watanabe K, Asakura A, Nakano T, Izumiyama Y, Okamoto D, Naito T, Moroi R, Kuroha M, Kanazawa Y, Kimura T, Shiga H, Naito T, Esaki M, Kawai Y, Tokunaga K, Nakamura M, Matsumoto T, Nagasaki M, Kinouchi Y, Unno M, and Masamune A. An integrated genomic and transcriptomic analysis reveals candidates of susceptibility genes for Crohn’s disease in Japanese populations. Sci. Rep. 10(1): e10236, 2020.

Huang YH, Liao SF, Khor SS, Lin YJ, Chen HY, Chang YH, Huang YH, Lu SN, Lee HW, Ko WY, Huang C, Liu PC, Chen YJ, Wu PF, Chu HW, Wu PE, Tokunaga K, Shen CY, Lee MH. Large-scale genome-wide association study identifies HLA Class II variants associated with chronic HBV infection: A study from Taiwan Biobank. Aliment pharmacol. Ther. 52(4): 682-691, 2020.

Jia X, Yamamura T, Gbadegesin R, McNulty MT, Song K, Nagano C, Hitomi Y, Dongwon Lee D, Aiba Y, Khor S-S, Ueno K, Kawai Y, Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Koichi Kamei K, Kaku Y, Fujimaru R, Tanaka R, Shima Y, RCGCINSJ, Baek J, Kang HG, Ha I-S, Han KH, Yang EM, KCHRDC, Abeyagunawardena A, Lane B, Chryst-Stangl M, Esezobor C, Solarin A, MPNC, Dossier C, Deschenes G, NEPHROVIR, Vivarelli M, Debiec H, Ishikura K, Matsuo M, Nozu K, Ronco P, Cheong HI, Sampson MG, Tokunaga K, and Iijima K. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney Int. 98(5): 1308-1322, 2020.

Yoshihara H, Sugiura-Ogasawara M, Ozawa F, Kitaori T, Ozaki Y, Aoki K, Shibata Y, Ugawa S, Nishiyama T, Omae Y, and Tokunaga K. Polo-like kinase 4 and stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy. Hum. Genome Var. 7(1): e18, 2020.

Tantivitayakul P, Ruangchai W, Juthayothin T, Smittipat N, Disratthakit A, Mahasirimongkol S, Viratyosin W, Tokunaga K, Palittapongarnpim P. Homoplastic single nucleotide polymorphisms contributed to phenotypic diversity in mycobacterium tuberculosis. Sci. Rep. 10(1): e8024, 2020.

Shimada M, Miyagawa T, Kodama T, Toyoda H, Tokunaga K, and Honda M. Metabolome analysis using cerebrospinal fluid from narcolepsy type 1 patients. Sleep 43(11): zsaa095, 2020.

Wichukchinda N, Pakdee J, Kunhapan P, Imunchot W, Toyo-Oka L, Tokunaga K, Mahasirimongkol S. Haplotype-specific PCR for NAT2 diplotyping. Hum Genome Var.7(1): e13, 2020.

Ueno K, Aiba Y, Hitomi Y, Shimoda S, Nakamura H, Gervais O, Kawai Y, Kawashima M, Nishida N, Kojima K, Katsushima S, Naganuma A, Sugi K, Komatsu T, Mannami T, Matsushita K, Yoshizawa K, Makita F, Nikami T, Shimada Y, Nishimura H, Kawano H, Kawano H, Kitasato A, Kuroki T, Abiru S, Nagaoka S, Komori A, Yatsuhashi H, Atsushi Tanaka A, Nagasaki M, Tokunaga K, Nakamura M and PBC-GWAS Consortium in Japan. Integrated GWAS and mRNA microarray analysis identified IFNG and CD40L as the central upstream regulators in primary biliary cholangitis. Hepatol. Commun. 4(5): 724-738, 2020.

Gervais O, Ueno K, Kawai Y, Hitomi Y, Misawa K, Teraguchi S, Wang Y-Y, Tokunaga K, and Nagasaki M. Genomic heritabilities and correlations of 17 traits related to obesity and associated conditions in the Japanese population. G3, 10(7):2221-2228, 2020.

Yamasaki M, Makino T, Khor SS, Toyoda H, Miyagawa T, Liu X, Kuwabara H, Kano Y, Shimada T, Sugiyama T, Nishida H, Sugaya N, Tochigi M, Otowa T, Okazaki Y, Kaiya H, Kawamura Y, Miyashita A, Kuwano R, Kasai K, Tanii H, Sasaki T, Honda M, and Tokunaga K. Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases. BMC Med. Genet. 13(1): e55, 2020.

Hashimoto S, Nakajima F, Imanishi T, Kawai Y, Kato K, Kimura T, Miyata S, Takanashi M, Nishio M, Tokunaga K, and Satake M. Implications of HLA diversity among regions for bone marrow donor searches in Japan. HLA. 96(1): 24-42, 2020.

Kim J, Jeon S, Choi JP, Blazyte A, Jeon Y, Kim JI, Ohashi J, Tokunaga K, Sugano S, Fucharoen S, Al-Mulla F, and Bhak J. The origin and composition of Korean ethnicity analyzed by ancient and present-day genome sequences. Genome Biol. Evol. 12(5): 553-565, 2020.

Okamoto D, Kawai Y, Kakuta Y, Naito T, Torisu T, Hirano A, Umeno J, Fuyuno Y, Li D, Nakano T, Izumiyama Y, Ichikawa R, Hiramoto K, Moroi R, Kuroha M, Kanazawa Y, Shiga H, Tokunaga K. Nakamura M, Esaki M, Matsumoto T, McGovern DPB, Nagasaki M, Kinouchi Y, and Masamune A. Genetic analysis of ulcerative colitis in Japanese individuals using population-specific SNP array. Inflamm. Bowel Dis. 26(8): 1177-1187, 2020.

Huang YH, Khor SS, Zheng X, Chen H-Y, Chang YH, Chu HW, Wu PE, Lin TJ, Liao SF, Shen CY, Tokunaga K, Lee M-H, and HLA & KIR Imputation Network (HKimp.net). A high-resolution HLA imputation system for the Taiwanese population: a study of the Taiwan Biobank. Pharmacogenomics J. 20(5): 695-704, 2020.

Kakuta Y, Izumiyama Y, Okamoto D, Nakano T, Ichikawa R, Naito T, Moroi R, Kuroha M, Kanazawa Y, Kimura T, Shiga H, Kudo H, Minegishi N, Kawai Y, Tokunaga K, Nagasaki M, Kinouchi Y, Suzuki Y, and Masasmune A, for the MENDEL study group. High-resolution melt analysis enables simple genotyping of complicated polymorphisms of codon 18 rendering the NUDT15 diplotype. J. Gastroenterol. 55(1): 67-77, 2020.

Shimada M, Miyagawa T, Takeshima A, Kakita A, Toyoda H, Niizato K, Oshima K, Tokunaga K, and Honda M. Epigenome-wide association study of narcolepsy-affected lateral hypothalamic brain and overlapping DNA methylation profiles between narcolepsy and multiple sclerosis. Sleep 43(1), 2020.