Genetic polymorphism information relating to model diseases. This site provides two databases and seven (downloadable) analysis tools.

Consult the descriptions about the two databases and tools. Databases: Genome Viewer, Disease Analytical Results. Tools: gPCR, AStat, POPGAN, Clark, LDConf, RIGHT.

UniGene | RefSeq

Ando T, Komaki G, Naruo T, Okabe K, Takii M, Kawai K, Konjiki F, Takei M, Oka T, Takeuchi K, Masuda A, Ozaki N, Suematsu H, Denda K, Kurokawa N, Itakura K, Yamaguchi C, Kono M, Suzuki T, Nakai Y, Nishizono-Maher A, Koide M, Murakami K, Nagamine K, Tomita Y, Ookuma K, Tomita K, Tonai E, Ooshima A, Ishikawa T, Ichimaru Y.

Possible role of preproghrelin gene polymorphisms in susceptibility to bulimia nervosa.

Am. J. Med. Genet. (in press) , 2006

Araki J, Ohashi J, Muramatsu M.

Application of discordant sib-pair linkage analysis for mapping minor histocompatibility antigen loci in a novel graft-versus-host-disease model.

Tissue Antigens 64: 243-250, 2004.

Bannai M, Higuchi K, Akesaka T, Furukawa M, Yamaoka M, Sato K, and Tokunaga K.

Single-nucleotide-polymorphism genotyping for whole-genome-amplified samples using automated fluorescence correlation spectroscopy.

Anal. Biochem 327(2): 215-221, 2004.

Chu ZT, Tsuchiya N, Kyogoku C, Ohashi J, Qian YP, Xu SB, Mao CZ, Chu JY, and Tokunaga K.

Association of Fcg receptor llb polymorphism with susceptibility to systemic lupus erythematosus in Chinese: a common susceptibility gene in the Asian populations.

Tissue Antigens 63(1): 21-27, 2004.

De La Vega FM, Isaac H, Collins A, Scafe CR, Halldorsson BV, Su X, Lippert RA, Wang Y, Laig-Webster M, Koehler RT, Ziegle JS, Wogan LT, Stevens JF, Leinen KM, Olson SJ, Guegler KJ, You X, Xu LH, Hemken HG, Kalush F, Itakura M, Zheng Y, de The G, O'Brien SJ, Clark AG, Istrail S, Hunkapiller MW, Spier EG, Gilbert DA.

The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern.

Genome Res. 15: 454-462, 2005.

Eguchi S and Copas J.

A class of logistic-type discriminant functions.

Biometrika 89:1-22, 2002.

Fujisawa H.

On usefulness of maximum likelihood estimator using incomplete data.

Measurements and Multivariate Analysis (eds. S. Nishisato et al.), Springer 227-232, 2002.

Fujisawa H, Eguchi S, Ushijima M, Miyata S, Matsuura M.

Genotyping of single nucleotide polymorphism using model-based clustering.

Bioinformatics 20: 718-726, 2004.

Gourraud PA, Mano S, Barnetche T, Carrington M, Inoko H, Cambon-Thomsen A.

Integration of microsatellite characteristics in the MHC region: a literature and sequence based analysis.

Tissue Antigens 64: 543-555, 2004.

Hamada D, Takata Y, Osabe D, Nomura K, Shinohara S, Egawa H, Nakano S, Shinomiya F, Scafe CR, Reeve VM, Miyamoto T, Moritani M, Kunika K, Inoue H, Yasui N, Itakura M.

Association between single-nucleotide polymorphisms in the SEC8L1 gene, which encodes a subunit of the exocyst complex, and rheumatoid arthritis in a Japanese population.

Arthritis Rheum 52: 1371-1380, 2005.

Hitomi Y, Tsuchiya N, Kawasaki A, Kyogoku C, Ohashi J, Suzuki T, Fukazawa T, Bejrachadra S, Siriboonrit U, Chandanayingyong D, Suthipinittharm P, Tsao BP, Hashimoto H, Honda Z, and Tokunaga K

CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erytematosus through epistatic interaction with FCGR2B.

Hum. Mol. Genet 13(23): 2907-2917, 2004.

Hosokawa, Y., Suzuki, H., Nakagawa, M., Lee, TH., Seto, M.

API2-MALT1 fusion protein induces transcriptional activation of the API2 gene through NF-kappaB binding elements: evidence for a positive feed-back loop pathway resulting in unremitting NF-kappaB activation.

Biochem. Biophys. Res. Commun 334: 51-60, 2005.

Hui J, Oka A, Tamiya G, Tomizawa M, Kulski JK, Penhale WJ, Tay GK, Iizuka M, Ozawa A, Inoko H.

Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis.

Tissue Antigens 60: 77-83, 2002.

Imanishi T, Itoh T, Suzuki Y, O'Donovan C, Fukuchi S, Koyanagi KO, Barrero RA, Tamura T, Yamaguchi-Kabata Y, Tanino M, Yura K, Miyazaki S, Ikeo K, Homma K, Kasprzyk T, Nishikawa A, Hirakawa M, Thierry-Mieg J, Thierry-Mieg D, AshurstJ, Jia J, Nakao M, Thomas MA, Mulder N, Karavidopoulou Y, Jin L, Kim S, Yasuda T, Lenhard B, Eveno E, Suzuki Y, Yamasaki C, Takeda J, Gough C, Hilton P, Fujii Y, Sakai H, Tanaka S, Amid C, Bellgard M, Bonaldo MF, Bono H, Bromberg SK, Brookes AJ, Bruford E, Carninci P, Chelala C, Couillault C, Souza SJ, Debily MA, DevignesMD, Dubchak I, Endo T, Estreicher A, Eyras E, Fukami-Kobayashi K, Gopinath GR, Graudens E, Hahn Y, Han M, Han Z, Hanada K, Hanaoka H, Harada E, Hashimoto K, Hinz U, Hirai M, Hishiki T, Hopkinson I, Imbeaud S, Inoko H, Kanapin A, Kaneko Y, Kasukawa T, Kelso J, Kersey P, Kikuno R, Kimura K, Korn B, KuryshevV, Makalowska I, Makino T, Mano S, Mariage-Samson R, Mashima J, Matsuda H, Mewes H, Minoshima S, Nagai K, Nagasaki H, Nagata N, Nigam R, Ogasawara O, Ohara O, Ohtsubo M, Okada N, Okido T, Oota S, Ota M, Ota T, Otsuki T, Piatier-Tonneau D, Poustka A, Ren S, Saitou N, Sakai K, Sakamoto S, Sakate R, Schupp I, Servant F, Sherry S, Shiba R, Shimizu N, Shimoyama M, Simpson AJ, Soares B, Steward C, Suwa M, Suzuki M, Takahashi A, Tamiya G, Tanaka H, Taylor T, Terwilliger JD, Unneberg P, Veeramachaneni P, Watanabe S, Wilming L, Yasuda N, Yoo H, Stodolsky M, Makalowski W, Go M, Nakai K, Takagi T, Kanehisa M, Sakaki Y, Quackenbush J, Okazak Y, Hayashizaki Y, Hide W, Chakraborty R, Nishikawa K, Sugawara H, Tateno Y, Chen Z, Oishi M, Tonellato P, Apweiler R, Okubo K, Wagner L, Wiemann S, Strausberg RL, Isogai T, Auffray C, Nomura N, Gojobori T, Sugano S.

Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones.

PLoS Biology 2: 1-20, 2004.

Isomura M, Miki Y.

SNPs associated with adverse effects.

Gan To Kagaku Ryoho. 2005 Nov;32(12):1908-13.

Ito T, Chiku S, Inoue E, Tomita M, Morisaki T, Morisaki H, and Kamatani N.

Estimation of haplotype frequencies, linkage disequilibrium measures and combination of haplotype copies in each pool using pooled DNA data

Am J Hum Genet 72: 384-398, 2003.

Ito T, Inoue E, and Kamatani N.

Association Test Algorithm Between a Qualitative Phenotype and a Haplotype or Haplotype Set Using Simultaneous Estimation of Haplotype Frequencies, Diplotype Configurations and Diplotype-Based Penetrances.

Genetics 168:2339-2348, 2004.

Kamitsuji S and Kamatani N.

Estimation of haplotype associated with several quantitative phenotypes based on maximization of area under ROC curve.

J Hum. Genet 51(4):314-325, 2006.

Katashima R, Kato H, Nomura K, Shinohara S, Itakura M.

SNPs typing system for the discovery of the common disease susceptibility genes.

Tanpakushitsu Kakusan Koso 49:1834-1840, 2004.

Kato H, Nomura K, Osabe D, Shinohara S, Mizumori O, Katashima R, Iwasaki S, Nishimura K, Yoshino M,Kobori M, Ichiishi E, Nakamura N, Yoshikawa T, Tanahashi T, Keshavarz P, Kunika K, Moritani M, Kudo E,Tsugawa K, Takata Y, Hamada D, Yasui N, Miyamoto T, Shiota H, Inoue H, Itakura M.

Association of Single-nucleotide Polymorphisms in the Suppressor of Cytokine Signaling 2 (SOCS2) Gene with Type 2 Diabetes (T2D) in Japanese.

Genomics 87: 446-458, 2006.

Katoh T, Mano S, Ikuta T, Munkhbat B, Tounai K, Ando H, Munkhtuvshin N, Imanishi T, Inoko H, and Tamiya G.

Genetic isolates in East Asia: a study of linkage disequilibrium in the X chromosome.

Ame. J. Hum. Genet 71:395-400, 2002.

Kono H, Kyogoku C, Suzuki T, Tsuchiya N, Honda H, Yamamoto K, Tokunaga K, and Honda Z.

FcgRIIB lle232Thr transmembrane polymorphism associated with human systemic lupus erythematosus decreased affinity to lipid rafts and attenuates inhibitory effects on B cell receptor signaling.

Hum. Mol. Genet 14(19): 2881-2892, 2005.

Kulski JK, Kenworthy W, Bellgard M, Taplin R, Okamoto K, Oka A, Mabuchi T, Ozawa A, Tamiya G, Inoko H.

Gene expression profiling of Japanese psoriatic skin reveals an increased activity in molecular stress and immune response signals.

J. Mol Med 83: 964-975, 2005.

Kuno S, Furihata S, Ito T, Saito K, and Kamatani N.

Unified method for Bayesian calculation of genetic risk.

Journal of Human Genetics 51(4):387-390, 2006.

Kuroki K, Tsuchiya N, Shiroishi M, Rasubala L, Yamashita Y, Matsuta K, Fukazawa T, Kusaoi M, Murakami Y, Takiguchi M, Juji T, Hashimoto H, Kohda D, Maenaka K, and Tokunaga K.

Extensive polymorphisms of LILRB1 (ILT2, LIR1) and their association with HLA-DRB1 shared epitope negative rheumatoid arthritis.

Hum. Mol. Genet 14(16): 2469-2480, 2005.

Kyogoku C, Tsuchiya N, Shibue T, Tokunaga K, and Matsuta K.

TNFR2 position 196 polymorphism in the Japanese patients with rheumatoid arthritis.

Arthritis Rheum 48(1): 273-274, 2003.

Kyogoku C, Tsuchiya N, Wui H, Tsao BP, and Tokunaga K.

Association of Fcg receptor llA, but not of llB and lllA, polymorphisms with systemic lupus erythematosus; A family-based association study in Caucasians.

Arthritis Rheum 50(2): 671-673, 2004.

Mano S, Yasuda N, Katoh T, Tounai, Inoko H, Imanishi T, Tamiya G, Gojobori T.

Notes on the maximum likelihood Estimation of haplotype frequencies.

Annals of Human Genetics 68(Pt 3):257-264, 2004.

Matsumoto T, Yukawa W, Nozaki Y, Nakashige R, Shinya M, Makino S, Yagura M, Ikuta T, Imanishi T, Inoko H, Tamiya G, Gojobori T.

Novel algorithm for automated genotyping of microsatellites.

Nucleic Acids Res 19; 32(20):6069-6077, 2004.

Matsuura M, Eguchi S.

Modeling late entry bias in survival analysis.

Biometrics, Vol.61, No.2, 2005.

Matsuzaka K, Makino S, Nakajima K, Tomizawa M, Oka A, Bahram S, Kulski JK, Tamiya G, Inoko H.

New microsatellite markers in the human MHC class III region.

Tissue Antigens 57: 397-404, 2001.

Matsuzaka Y, Tounai K, Denda A, Tomizazwa M, Makino S, Okamoto K, Keicho N, Oka A, Kulski JK, Tamiya G, Inoko H.

Identification of novel candidate genes in the diffuse panbronchiolitis critical region of the class I human MHC.

Immunogenetics 54: 301-309, 2002.

Mizuta I, Satake W, Nakabayashi Y, Ito C, Suzuki S, Momose Y, Nagai Y, Oka A, Inoko H, Fukae J, Saito Y, Sawabe M, Murayama S, Yamamoto M, Hattori N, Murata M, Toda T.

Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease.

Hum Mol Genet 1;15(7):1151-8, 2006.

Nagasaki K. and Miki. Y.

Gene Expression Profiling of Breast Cancer.

Breast Cancer 13 (1): 2-7, 2006.

Nakagawa M, Hosokawa Y, Yonezumi M, Izumiyama K, Suzuki R, Tsuzuki S, Asaka M, Seto M.

MALT1 contains nuclear export signals and regulates cytoplasmic localization of BCL10.

Blood 106:4210-4216, 2005.

Nishida N, Tanabe T, Hashido K, Hirayasu K, Takasu M, Suyama A and Tokunaga K.

DigiTag assay for multiplex SNP typing with high success rate.

Anal. Biochem. 346(2): 281-288, 2005.

Ohashi J, Yamamoto S, Tsuchiya N, Hatta Y, Komata T, Matsushita M, Tokunaga K.

Comparison of statistical power between 2 × 2 allele frequency and allele positivity tables in case-control studies of complex disease genes.

Annals of Human Genetics 65: 197-206, 2001.

Ohashi J, Tokunaga K.

Power of genomewide association studies of complex disease genes: Statistical limitation of indirect approaches using SNP markers.

Journal of Human Genetics 46: 478-482, 2001.

Ohashi J, Tokunaga K.

The expected power of genome-wide linkage disequilibrium testing using single nucleotide polymorphism markers for detecting a low-frequency disease variant.

Annals of Human Genetics 66: 297-306, 2002.

Ohashi J, Tokunaga K.

The power of genome-wide linkage disequilibrium (LD) testing using microsatellite markers.

Journal of Human Genetics 48: 487-491, 2003.

Ohashi J, Maruya E, Tokunaga K, Saji H.

Power of association test for detection minor histocompatibility gene causing graft-versus-host disease following bone marrow transplantation.

Journal of Human Genetics 48: 502-507, 2003.

Ohashi J, Clark AG.

Application of the stepwise focusing method to optimization of the cost-effectiveness of genome-wide association study with limited research budget for genotyping and phenotyping.

Annals of Human Genetics 69: 323-328, 2005.

Okamoto K, Makino S, Yoshikawa Y, Takaki A, Nagatsuka Y, Ota M, Tamiya G, Kimura A, Bahram S, Inoko H.

Identification of IkBL as the second Major Histocompatibility Complex-linked susceptibility locus for rheumatoid arthritis.

Am. J. Hum. Genet 72: 303-312, 2003.

Omi K, Ohashi J, Patarapotikul J, Hananantachai H, Naka I, Looareesuwan S, Tokunaga K.

CD36 polymorphism is associated with protection from cerebral malaria.

American Journal of Human Genetics 72: 364-374, 2003.

Ota M, Katsuyama Y, Kimura A, Tsuchiya K, Kondo M, Naruse T, Mizuki N, Sasazuki T, Inoko H.

A second susceptibility gene for developing rheumatoid arthritis in the human MHC is localized within a 70 kb interval telomeric of the TNF genes in the HLA class III region.

Genomics 71: 263-270, 2001.

Romphruk AV, Oka A, Romphruk A, Tomizawa M, Choonhakarn C, Naruse TK, Puapairoj C, Tamiya G, Leelayuwat C, Inoko H.

Corneodesmosin gene: no evidence for PSORS 1 gene in North-eastern Thai psoriasis patients.

Tissue Antigens 62: 217-224, 2003.

Satoh K, Ohtaki M.

A note on multiple regression for single index model.

Communications in Statistics, Theory and Methods 33:1-14, 2004.

Satoh K, Otani K, Ushijima M, Isomura M, Matsuura M, Miki Y, Ohtaki M

Genotyping of Single Nucleotide Polymorphisms Based on a Mathematical Model for Two-Dimensional Data.

Jpn. J. of Biometrics 25: 61-67, 2004.

Satoh K, Yanagihara H, Ohtaki M.

Clustering method by connected neighborhoods and its application.

Advances and Applications in Statistics 4(2): 223-231, 2004.

Shibata K, Ito T, Kitamura Y, Iwasaki N, Tanaka H, and Kamatani N.

Simultaneous Estimation of Haplotype Frequencies and Quantitative Trait Parameters: Applications to the Test of Association Between Phenotype and Diplotype Configuration.

Genetics 168 (1): 525-539, 2004.

Shimoji T, Miki Y, Nagasaki K.

Gene expression profiling for prediction of response to chemotherapy

Gan To Kagaku Ryoho 33(1):1-5, 2006.

Sugiyama Y, Dan S, Yoshida Y, Akiyama F, Sugiyama K, Hirai Y, Matsuura M, Miyata S, Ushijima M, Hasumi K and Yamori T.

A Large-scale Gene Expression Comparison of Microdissected, Small-sized Endometrial Cancers with or without Hyperplasia Matched to Same-patient Normal Tissue.

Clinical Cancer Research 9(15): 5589-5600, 2003.

Suguro M, Tagawa H, Kagami Y, Okamoto M, Ohshima K, Shiku H, Morishima Y, Nakamura N, Seto M.

Expression profiling analysis of the CD5+ Diffuse Large B-cell Lymphoma subgroup: the development of a CD5 signature.

Cancer Science, in press, 2006.

Tagawa H, Suguro M, Tsuzuki S, Matsuo K, Karnan S, Ohshima K, Okamoto M, Morishima Y, Nakamura S, Seto M.

Comparison of genome profiles for identification of distinct subgroups of diffuse large B-cell lymphoma.

Blood 106:1770-1777, 2005.

Takeuchi T, Tomida S, Yatabe Y, Kosaka T, Osada H, Yanagisawa K, Mitsudomi T and Takahashi T.

Expression profile-defined classification of lung adenocarcinoma shows close relationship with underlying major genetic changes and clinicopathologic behaviors.

J. Clin. Oncol 24(11):1679-88, 2006.

Tamiya G, Shinya M, Imanishi T, Ikuta T, Makino S, Okamoto K, Furugaki K, Matsumoto T, Mano S, Ando S, Nozaki Y, Yukawa W, Nakashige R, Yamaguchi D, Ishibashi H, Yonekura M, Nakami Y, Takayama S, Endo T, Saruwatari T, Yagura M, Yoshikawa Y, Fujimoto K, Oka A, Chiku S, Linsen SEV, Giphart MJ, Kulski JK, Fukazawa T, Hashimoto H, M Kimura, Hoshina Y, Suzuki Y, Hotta T, Mochida J, Minezaki T, Komai K, Shiozawa S, Taniguchi A, Yamanaka H, Kamatani N, Gojobori T, Bahram S, Inoko H.

Whole genome association study of rheumatoid arthritis using 27,039 microsatellites.

Hum Mol Genetics 14: 2305-2321, 2005.

Tanaka T, Tanimoto K, Otani K, Satoh K, Ohtaki M, Hiyama, K, Nishiyama M.

Concise Prediction Models of Anticancer Efficacy of 8 Drugs using Expression Data from 12 Selected Genes.

International Journal of Cancer 111: 617-626, 2004.

Tomita M.

Calculation and Property of Disequilibrium Parameters on Linkage Disequilibrium Analysis.

Journal of Dokkyo University Studies of Economics 76:53-55, 2003.

Tonda T.

A class of multivariate discrete distributions based on the approximate density in GLMM.

Hiroshima Mathematical Journal 35(2): 327-349, 2005.

Tsuchiya N, Ohashi J, Tokunaga K.

Variations in immune response genes and their associations with multifactorial immune disorders.

Immunological reviews 190: 169-181, 2002.

Yanagihara H, Ohtaki M.

A family of regression models having partially additive and multiplicative covariate structure.

Bulletin of Information and Cybernet“Special Issue in Honor of Professor Takashi Yanagawa Part II”37: 49-64, 2005.