Nishida N, Sugiyama M, Kawai Y, Naka I, Iwamoto N, Suzuki T, Suzuki M, Miyazato Y, Suzuki S, Izumi S, Hojo M, Tsuchiura T, Ishikawa M, Ohashi J, Ohmagari N, Tokunaga K, and Mizokami M: Genetic association of IL17 and the importance of ABO blood group antigens in saliva to COVID-19. Sci. Rep. 12(1): e3854, 2022.

Mori T, Ueno K, Tokunaga K, Kawai Y, Matsuda K, Nishida N, Komine K, Saito S, Nagasaki M; BioBank Japan Project: A single-nucleotide-polymorphism in the 5'-flanking region of MSX1 gene as a predictive marker candidate for platinum-based therapy of esophageal carcinoma. Ther. Adv. Med. Oncol. 14: 17588359221080580, 2022.

Kasai M, Omae Y, Kawai Y, Shibata A, Hoshino A, Mizuguchi M, and Tokunaga K: GWAS identifies candidate susceptibility loci and microRNA biomarkers for acute encephalopathy with biphasic seizures and late reduced diffusion. Sci. Rep. 12(1): e1332, 2022.

Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJS, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, Boughtwood TF, Bourque G, Bowers SR, Brookes AJ, Brudno M, Brush MH, Bujold D, Burdett T, Buske OJ, Cabili MN, Cameron DL, Carroll RJ, Casas-Silva E, Chakravarty D, Chaudhari BP, Chen SH, Cherry JM, Chung J, Cline M, Clissold HL, Cook-Deegan RM, Courtot M, Cunningham F, Cupak M, Davies RM, Denisko D, Doerr MJ, Dolman LI, Dove ES, L. Dursi LJ, Dyke SOM, Eddy JA, Eilbeck K, Ellrott KP, Fairley S, Fakhro KA, Firth HV, Fitzsimons MS, Fiume M, Flicek P, Fore IM, Freeberg MA, Freimuth RR, Fromont LA, Fuerth J, Gaff CL, Gan W, Ghanaim EM, Glazer D, Green RC, Griffith M, Griffith OL, Grossman RL, Groza T, Auvil JMG, Guigo ´R, Gupta D, Haendel MA, Hamosh A, Hansen DP, Hart RK, Hartley DM, Haussler D, Hendricks-Sturrup RM, Ho CWL, Hobb AE, Hoffman MM, Hofmann OM, Holub P, Hsu JS, Hubaux JP, Hunt SE, Husami A, Jacobsen JO, Jamuar SS, Janes EL, Jeanson F, Jene ´ A, Johns AL, Joly Y, Jones SJM, Kanitz A, Kato K, Keane TM, Kekesi-Lafrance K, Kelleher J, Kerry G, Khor SS, Knoppers BM, Konopko MA, Kosaki K, Kuba M, Lawson J, Leinonen R, S Li S, Lin MF, Linden M, Liu X, Liyanage IU, Lopez J, Lucassen AM, Lukowski ML, Mann AL, Marshall J, Mattioni M, Metke-Jimenez A, Middleton A, Milne RJ, Molnar-Gabor F, Mulder N, Munoz-Torres MC, Nag R, Nakagawa H, Nasir J, Navarro A, Nelson TH, Niewielska A, Nisselle A, Niu J, Nyro ¨ nen TH, O’Connor BD, Oesterle S, Ogishima S, Paglione LAD, Palumbo E, Parkinson HE, Philippakis AA, Pizarro AD, Prlic A, Rambla J, Rendon A, Rider RA, Robinson PN, Rodarmer KW, Rodriguez LL, Rubin AF, Rueda M, Rushton GA, Ryan RS, Saunders GI, Schuilenburg H, Schwede T, Scollen S, Senf A, Sheffield NC, Skantharajah N, Smith AV, Sofia HJ, Spalding D, Spurdle AB, Stark Z, Stein LD, Suematsu MS, Tan P, Tedds JA, Thomson AA, Thorogood A, Tickle TL, Tokunaga K, To ¨ rnroos J, Torrents D, Upchurch S, Alfonso Valencia A, Guimera RV, Vamathevan J, Varma S, Vears DF, Viner C, Voisin C, Wagner AH, Wallace SE, Walsh BP, Wang VO, Williams MS, Winkler EC, Wold BJ, Wood GM, Woolley JP, Yamasaki C, Yates AD, Yung CK, Zass LJ, Zaytseva K, Zhang J, Goodhand P, North K, and Birney E: GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genomics 1(2): e100029, 2021.

Miyagawa T, Shimada M, Honda Y, Kodama T, Tokunaga K, and Honda M: A variant in orexin receptor-2 is associated with self-reported daytime sleepiness in the Japanese population. J. Hum. Genet. 67(6): 377-380, 2022.

Hitomi Y, Aiba Y, Ueno K, Nishida N, Kawai Y, Kawashima M, Yasunami M, Gervais O, Ito M, Cordell HJ, Mells GF, Nagasaki M, Tokunaga K, Tsuiji M, and Nakamura M: rs9459874 and rs1012656 in CCR6/FGFR1OP confer susceptibility to primary biliary cholangitis. J. Autoimmun. 126: e102775, 2022.

Kakuta Y, Iwaki H, Umeno J, Kawai Y, Kawahara M, Takagawa T, Shimoyama Y, Naito T, Moroi R, Kuroha M, Shiga H, Watanabe K, Nakamura S, Nakase H, Sasaki M, Hanai H, Fuyuno Y, Hirano A, Matsumoto T, Kudo H, Minegishi N, Nakamura M, Hisamatsu T, Andoh A, Nagasaki M, Tokunaga K, Kinouchi Y; MENDEL study group, and Masamune A: Crohn's disease and early exposure to thiopurines are independent risk factors for mosaic chromosomal alterations in patients with inflammatory bowel diseases. J. Crohns Colitis. 16(4): 643-655, 2022.

Kawazu M, Ueno T, Saeki K, Sax N, Togashi Y, Kaneseki T, Chida K, Kishigami F, Sato K, Kojima S, Otsuka M, Kawazoe A, Nishinakamura H, Maeda Y, Yamamoto Y, Yamashita K, Inoue S, Tanegashima T, Matsubara D, Tane K, Tanaka Y, Iinuma H, Hashiguchi Y, Hazama S, Khor SS, Tokunaga K, Tsuboi M, Niki T, Eto M, Shitara K, Torigoe T, Ishihara S, Aburatani H, Haeno H, Nishikawa H, and Mano H: HLA Class I analysis provides insight into the genetic and epigenetic background of immune evasion in colorectal cancer with high microsatellite instability. Gastroenterology 162(3): 799-812, 2022.

Tanaka H, Lee H, Morita A, Namkoong H, Chubachi S, Kabata H, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Murakami K, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K; Japan COVID-19 Task Force: Clinical Characteristics of Patients with Coronavirus Disease (COVID-19): Preliminary Baseline Report of Japan COVID-19 Task Force, a Nation-wide Consortium to Investigate Host Genetics of COVID-19. Int. J. Infect. Dis. 113: 74-81, 2021.

COVID-19 Host Genetics Initiative: Mapping the human genetic architecture of COVID-19. Nature 600(7889): 472-477, 2021.

Kikuchi M, Kobayashi K, Nishida N, Sawai H, Sugiyama M, Mizokami M, Tokunaga K, and Nakaya A: Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population. Hum. Genome Var. 8(1): e22, 2021.

Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor SS, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran BD, Atkinson EJ, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira MAR, Sun D, Jones DE, Flack S, Spicer A, Mulcahy VL, Byan J, Han Y, Sandford RN, Lazaridis KN, Amos CI, Hirschfield GM, Seldin MF, Invernizzi P, Siminovitch KA, Ma X, Nakamura M, Mells GF; Canadian PBC Consortium, Chinese PBC Consortium, Italian PBC Study Group, Japan-PBC-GWAS Consortium, US PBC Consortium, and UK-PBC Consortium: An international genome-wide meta-analysis of primary biliary cholangitis: novel risk loci and candidate drugs. J. Hepatol. 75(3): 572-581, 2021.

Ashouri S, Wong JH, Nakagawa H, Shimada M, Tokunaga K, and Fujimoto A: Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression. Hum. Genet. 140(8): 1201-1216, 2021.

Khor SS, Omae Y, Nishida N, Sugiyama M, Kinoshita N, Suzuki T, Suzuki M, Suzuki S, Izumi S, Hojo M, Ohmagari N, Mizokami M, and Tokunaga K: HLA-A*11:01:01:01, HLA-C*12:02:02:01-HLA-B*52:01:02:02, age and sex are associated with severity of Japanese COVID-19 with respiratory failure. Front. Immunol. 12: e658570, 2021.

Gervais O, Ueno K, Kawai Y, Hitomi Y, Aiba Y, Ueta M, Nakamura M, Tokunaga K, and Nagasaki M: Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population. Eur. J. Hum. Genet. 29(8): 1282-1291, 2021.

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. 28(1): 21-31, 2022.

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. 106(5): 610-615, 2022.