RIKEN IMS AnnualReport 2021
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85steinsdottir U, Tobias JH, Uitterlinden AG, Winsvold B, Zwart JA, Davey Smith G, Sham PC, Thorleifsson G, Gaunt TR, Morris AP, Valdes AM, Tsezou A, Cheah KSE, Ikegawa S, Hveem K, Esko T, Wilkinson JM, Meulenbelt I, Lee MTM, van Meurs JBJ, Styrkársdóttir U, Zeggini E. Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. Cell 184, 4784-4818.e17 (2021) 16 Cariño R 3rd, Takayasu L, Suda W, Masuoka H, Hirayama K, Konishi S, Umezaki M. The search for aliens within us: a review of evidence and theory regarding the foetal microbiome. Crit Rev Microbiol, 1-13 (2021) 17 Chang L, Liu A, Xu J, Xu X, Dai J, Wu R, Yan W, Wang R, Sun Z, Ikegawa S, Jiang Q, Shi D. TDP-43 maintains chondrocyte homeostasis and alleviates cartilage degradation in osteoarthritis. Osteoarthritis Cartilage 29, 1036-1047 (2021) 18 Chanhom N, Wattanapokayakit S, Satproedprai N, Suvichapanich S, Mahasirimongkol S, Chaikledkaew U, Udomsinprasert W, Mushiroda T, Jittikoon J. CYP2E1, GSTM1, and GSTT1 genetic polymorphisms and their associations with susceptibility to antitu-berculosis drug-induced liver injury in Thai tuberculosis patients. Heliyon 7, e06852 (2021) 19 Charalampidi A, Kordou Z, Tsermpini EE, Bosganas P, Chantratita W, Fukunaga K, Mushiroda T, Patrinos GP, Koromina M. Pharmacogenomics variants are associated with BMI differences between individuals with bipolar and other psychiatric disor-ders. Pharmacogenomics 22, 749-760 (2021) 20 Chen M, Raffield L, Mousas A, Sakaue S, Huffman J, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao E, Zhong X, Manansala R, Laplante V, Chen M, Lo K, Qian H, Lareau C, Beaudoin M, Hunt K, Akiyama M, Bartz T, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger E, Brody J, van Rooij F, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans M, Floyd J, Broer L, Grarup N, Guo M, Greinacher A, Haessler J, Hansen T, Howson J, Huang Q, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange L, Lehtimäki T, Lerch M, Linneberg A, Liu Y, Lyytikäinen L, Manichaikul A, Martin H, Mat-suda K, Mohlke K, Mononen N, Murakami Y, Nadkarni G, Nauck M, Nikus K, Ouwehand W, Pankratz N, Pedersen O, Preuss M, Psaty B, Raitakari O, Roberts D, Rich S, Rodriguez B, Rosen J, Rotter J, Schubert P, Spracklen C, Surendran P, Tang H, Tardif J, Trembath R, Ghanbari M, Völker U, Völzke H, Watkins N, Zonderman A, Wilson P, Li Y, Butterworth A, Gauchat J, Chiang C, Li B, Loos R, Astle W, Evangelou E, van Heel D, Sankaran V, Okada Y, Soranzo N, Johnson A, Reiner A, Auer P, Lettre G. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Cell 182, 1198-1213 (2021) 21 Chen M, Sidore C, Akiyama M, Ishigaki K, Kamatani Y, Schlessinger D, Cucca F, Okada Y, Chiang CW. Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan. Am J Hum Genet 107, 61-70 (2021) 22 Chiou TY, Suda W, Oshima K, Hattori M, Matsuzaki C, Yamamoto K, Takahashi T. Lentilactobacillus kosonis sp. nov., isolated from koso, a Japanese sugar-vegetable fermented beverage. Int J Syst Evol Microbiol 71 (2021) 23 Chotirat S, Nekkab N, Kumpitak C, Hietanen J, White MT, Kiattibutr K, Sa-Angchai P, Brewster J, Schoffer K, Takashima E, Tsuboi T, Harbers M, Chitnis CE, Healer J, Tham WH, Nguitragool W, Mueller I, Sattabongkot J, Longley RJ. Application of 23 Novel Serological Markers for Identifying Recent Exposure to Plasmodium vivax Parasites in an Endemic Population of Western Thailand. Front Microbiol 12, 643501 (2021) 24 Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, Schumacher FR, Olama AAA, Benlloch S, Dadaev T, Brook MN, Sahimi A, Hoffmann TJ, Takahashi A, Matsuda K, Momozawa Y, Fujita M, Muir K, Lophatananon A, Wan P, Le Marchand L, Wilkens LR, Stevens VL, Gapstur SM, Carter BD, Schleutker J, Tammela TLJ, Sipeky C, Auvinen A, Giles GG, Southey MC, MacInnis RJ, Cybulski C, Wokołorczyk D, Lubiński J, Neal DE, Donovan JL, Hamdy FC, Martin RM, Nordestgaard BG, Nielsen SF, Weischer M, Bojesen SE, Røder MA, Iversen P, Batra J, Chambers S, Moya L, Horvath L, Clements JA, Tilley W, Risbridger GP, Gronberg H, Aly M, Szulkin R, Eklund M, Nordström T, Pashayan N, Dun-ning AM, Ghoussaini M, Travis RC, Key TJ, Riboli E, Park JY, Sellers TA, Lin HY, Albanes D, Weinstein SJ, Mucci LA, Giovannucci E, Lindstrom S, Kraft P, Hunter DJ, Penney KL, Turman C, Tangen CM, Goodman PJ, Thompson IM Jr, Hamilton RJ, Fleshner NE, Finelli A, Parent MÉ, Stanford JL, Ostrander EA, Geybels MS, Koutros S, Freeman LEB, Stampfer M, Wolk A, Håkansson N, Andriole GL, Hoover RN, Machiela MJ, Sørensen KD, Borre M, Blot WJ, Zheng W, Yeboah ED, Mensah JE, Lu YJ, Zhang HW, Feng N, Mao X, Wu Y, Zhao SC, Sun Z, Thibodeau SN, McDonnell SK, Schaid DJ, West CML, Burnet N, Barnett G, Maier C, Schnoeller T, Luedeke M, Kibel AS, Drake BF, Cussenot O, Cancel-Tassin G, Menegaux F, Truong T, Koudou YA, John EM, Grindedal EM, Maehle L, Khaw KT, Ingles SA, Stern MC, Vega A, Gómez-Caamaño A, Fachal L, Rosenstein BS, Kerns SL, Ostrer H, Teixeira MR, Paulo P, Brandão A, Watya S, Lubwama A, Bensen JT, Fontham ETH, Mohler J, Taylor JA, Kogevinas M, Llorca J, Castaño-Vinyals G, Cannon-Albright L, Teerlink CC, Huff CD, Strom SS, Multigner L, Blanchet P, Brureau L, Kaneva R, Slavov C, Mitev V, Leach RJ, Weaver B, Brenner H, Cuk K, Holleczek B, Saum KU, Klein EA, Hsing AW, Kittles RA, Murphy AB, Logothetis CJ, Kim J, Neuhausen SL, Steele L, Ding YC, Isaacs WB, Nemesure B, Hennis AJM, Carpten J, Pandha H, Michael A, De Ruyck K, De Meerleer G, Ost P, Xu J, Razack A, Lim J, Teo SH, Newcomb LF, Lin DW, Fowke JH, Neslund-Dudas C, Rybicki BA, Gamulin M, Lessel D, Kulis T, Usmani N, Singhal S, Parliament M, Claessens F, Joniau S, Van den Broeck T, Gago-Dominguez M, Castelao JE, Martinez ME, Larkin S, Townsend PA, Aukim-Hastie C, Bush WS, Aldrich MC, Craw-ford DC, Srivastava S, Cullen JC, Petrovics G, Casey G, Roobol MJ, Jenster G, van Schaik RHN, Hu JJ, Sanderson M, Varma R, McKean-Cowdin R, Torres M, Mancuso N, Berndt SI, Van Den Eeden SK, Easton DF, Chanock SJ, Cook MB, Wiklund F, Nakagawa H, Witte JS, Eeles RA, Kote-Jarai Z, Haiman CA. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction. Nat Genet 53, 65-75 (2021) 25 Dawed AY, Yee SW, Zhou K, van Leeuwen N, Zhang Y, Siddiqui MK, Etheridge A, In-nocenti F, Xu F, Li JH, Beulens JW, van der Heijden AA, Slieker RC, Chang YC, Mercader JM, Kaur V, Witte JS, Lee MTM, Kamatani Y, Momozawa Y, Kubo M, Palmer CNA, Florez JC, Hedderson MM, ’t Hart LM, Giacomini KM, Pearson ER; for MetGen Plus, for the DI-RECT Consortium; MetGen Plus investigators: Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas. Diabetes Care 44, 2673-2682 (2021) 26 Du R, Xie S, Fang Y, Igarashi-Yokoi T, Moriyama M, Ogata S, Tsunoda T, Kamatani T, Yamamoto S, Cheng CY, Saw SM, Ting D, Wong TY, Ohno-Matsui K. Deep Learning Approach for Automated Detection of Myopic Maculopathy and Pathologic Myopia in Fundus Images. Ophthalmology Retina 5, 1235-1244 (2021) 27 Du Z, Chen A, Huang L, Dai X, Chen Q, Yang D, Li L, Miller H, Westerberg L, Ding Y, Tang X, Kubo M, Jiang L, Zhao X, Wang H, Liu C. STAT3 couples with 14-3-3σ to regulate BCR signaling, B-cell differentiation, and IgE production. J Allergy Clin Immunol 147, 1907-1923.e6 (2021) 28 Ducoli L, Agrawal S, Hon CC, Ramilowski JA, Sibler E, Tagami M, Itoh M, Kondo N, Abugessaisa I, Hasegawa A, Kasukawa T, Suzuki H, Carninci P, Shin JW, de Hoon MJL, Detmar M. The choice of negative control antisense oligonucleotides dramatically impacts downstream analysis depending on the cellular background. BMC Genom Data 22, 33 (2021) 29 Ducoli L, Agrawal S, Sibler E, Kouno T, Tacconi C, Hon C, Berger SD, Müllhaupt D, He Y, Kim J, D’Addio M, Dieterich LC, Carninci P, De Hoon M, Shin JW, Detmar M. LETR1 is a lymphatic endothelial-specific lncRNA governing cell proliferation and migration through KLF4 and SEMA3C. Nat Commun 12, 925 (2021) 30 Ebata N, Fujita M, Sasagawa S, Maejima K, Okawa Y, Hatanaka Y, Mitsuhashi T, Oosa-wa-Tatsuguchi A, Tanaka H, Miyano S, Nakamura T, Hirano S, Nakagawa H. Molecular Classification and Tumor Microenvironment Characterization of Gallbladder Cancer by Comprehensive Genomic and Transcriptomic Analysis. Cancers 13, 733 (2021) 31 El-Boraie A, Chenoweth MJ, Pouget JG, Benowitz NL, Fukunaga K, Mushiroda T, Kubo M, Nollen NL, Sanderson Cox L, Lerman C, Knight J, Tyndale RF. Transferability of Ancestry-Specific and Cross-Ancestry CYP2A6 Activity Genetic Risk Scores in African and European Populations. Clin Pharmacol Ther 110, 975-985 (2021) 32 El-Boraie A, Tanner JA, Zhu AZX, Claw KG, Prasad B, Schuetz EG, Thummel KE, Fukunaga K, Mushiroda T, Kubo M, Benowitz NL, Lerman C, Tyndale RF. Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes. 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