Research Topics
Genomes and Genes
| T ArinamiSummaryAffiliation: University of Tsukuba Country: Japan Publications
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Detail Information
Publications
Large scale genotyping study for asthma in the Japanese populationYoshiko Imada
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, 305 8577 Japan
BMC Res Notes 2:54. 2009..CONCLUSION: No association attained genome-wide significance, but several loci for possible association emerged. Future studies are required to validate these results for the prevention and treatment of asthma...
Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genesMasaya Fujimoto
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan
BMC Med Genet 9:42. 2008....
Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis familiesHisako Enomoto
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Japan
BMC Dermatol 7:5. 2007..The aim of this study was to identify chromosome regions linked to atopic dermatitis in a Japanese population...
Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 regionAya Kawasaki
Molecular and Genetic Epidemiology Laboratory, Doctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, 1 1 1 Tennodai, Tsukuba 305 8575, Japan
Arthritis Res Ther 10:R113. 2008..To accomplish these aims, we carried out a comprehensive association analysis of 52 tag single nucleotide polymorphisms (SNPs) encompassing the STAT1-STAT4 region...
Supportive evidence for contribution of the dopamine D2 receptor gene to heritability of stature: linkage and association studiesT Arinami
Department of Medical Genetics, University of Tsukuba, Ibaraki, Japan
Ann Hum Genet 63:147-51. 1999..004, SIBPAL) and an association (p = 0.009, paired t-test, in the sib-pairs; p = 0.006, ANOVA, in the adults) with stature were suggested. These findings indicate that DRD2 is one of the genes that contribute to heritability of stature...
[Genome-wide association analyses for neuroleptic-induced tardive dyskinesia]Tadao Arinami
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8577, Japan
Nihon Shinkei Seishin Yakurigaku Zasshi 31:155-62. 2011..These findings indicate that individuals with the susceptibility to TD may have less ability to adapt to long-term exposure of neuroleptics in some gene expression levels...
Genomewide high-density SNP linkage analysis of 236 Japanese families supports the existence of schizophrenia susceptibility loci on chromosomes 1p, 14q, and 20pTadao Arinami
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki Ken, 305 8577, Japan
Am J Hum Genet 77:937-44. 2005....
Analyses of the associations between the genes of 22q11 deletion syndrome and schizophreniaTadao Arinami
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, 305 8577, Japan
J Hum Genet 51:1037-45. 2006..Because more than one gene in the 22q11DS region is likely to contribute to the marked risk for schizophrenia, further extensive studies are necessary. Analyses of 22q11DS will help clarify the molecular pathogenesis of schizophrenia...
Polymorphisms in genes involved in neurotransmission in relation to smokingT Arinami
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki 305 8575, Tsukuba, Japan
Eur J Pharmacol 410:215-226. 2000..We now review genetic polymorphisms reported to be involved in neurotransmission in relation to smoking...
Screening for 22q11 deletions in a schizophrenia populationT Arinami
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Tsukuba 305 8575, Japan
Schizophr Res 52:167-70. 2001..However, our findings establish the existence of physically near-normal individuals with 22q11.2 deletion among learning disabled or mildly retarded persons with schizophrenia...
A synergistic effect of serotonin transporter gene polymorphism and smoking in association with CHDT Arinami
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Japan
Thromb Haemost 81:853-6. 1999..Odds ratio of the combination of the L allele and smoking was 1.95 (p <0.003). The 5-HTT gene promoter polymorphism may play a role in susceptibility to CHD, particularly when it is combined with smoking...
Evidence supporting an association between the DRB1 gene and schizophrenia in JapaneseT Arinami
Department of Medical Genetics, University of Tsukuba, Japan
Schizophr Res 32:81-6. 1998..Since both DR4 and DR1 are positively associated with rheumatoid arthritis, our findings are not simply consistent with the known negative association between schizophrenia and rheumatoid arthritis...
Methylenetetrahydrofolate reductase variant and schizophrenia/depressionT Arinami
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Japan
Am J Med Genet 74:526-8. 1997..9 (P = 0.0006), and in patients with major depression with an odds ratio of 2.8 (P = 0.005). Our data suggest associations of the MTHFR gene variant with schizophrenia and depression in the Japanese...
Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18J Nakayama
Department of Medical Genetics, University of Tsukuba, Tsukuba, Ibaraki, Japan
Neurology 63:1803-7. 2004..Febrile seizures (FSs) are the most common form of childhood seizures, and genetic factors play a role in susceptibility to FS...
Association of polymorphisms in the haplotype block spanning the alternatively spliced exons of the NTNG1 gene at 1p13.3 with schizophrenia in Japanese populationsT Ohtsuki
Department of Medical Genetics, Doctoral Program in Social and Environmental Medicine, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8575 Japan
Neurosci Lett 435:194-7. 2008..Allelic association of a different SNP in the same haplotype block in Japanese families was previously reported. These findings support that the NTNG1 gene is associated with schizophrenia in the Japanese...
PICK1 is not a susceptibility gene for schizophrenia in a Japanese population: association study in a large case-control populationH Ishiguro
Department of Medical Genetics, Doctoral Program in Social and Environmental Medicine, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, 1 1 1 Tennoudai, Tsukuba, Ibaraki 305 8575, Japan
Neurosci Res 58:145-8. 2007..We conclude that the common haplotypes and polymorphisms of the PICK1 gene identified thus far are unlikely to contribute to genetic susceptibility to schizophrenia in the Japanese population...
Identification of missense mutation in the IL12B gene: lack of association between IL12B polymorphisms and asthma and allergic rhinitis in the Japanese populationE Noguchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki-ken, 305-8575, Japan
Genes Immun 2:401-3. 2001..1) and was not associated significantly with total serum IgE level (P > 0.1). Our results indicate that polymorphisms in IL12B are not likely to be associated with the development of atopy-related phenotypes...
Linkage and association of atopic asthma to markers on chromosome 13 in the Japanese populationK Kimura
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Japan
Hum Mol Genet 8:1487-90. 1999..0009, Bonferroni correction 5% = 0. 0037, 1% = 0.00072). These findings indicate that genes on chromosome 13 may play an important role in the development of atopy or asthma across various populations...
A genome-wide linkage analysis of orchard grass-sensitive childhood seasonal allergic rhinitis in Japanese familiesY Yokouchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan
Genes Immun 3:9-13. 2002..3, have been previously reported to be linked to asthma and/or atopy. These data suggest that, although loci linked to SAR are likely to be common to asthma, a strong contribution by specific gene(s) to OG-sensitive SAR is unlikely...
Mutation analysis of the leucine-rich, glioma inactivated 1 gene (LGI1) in Japanese febrile seizure patientsJ Nakayama
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki-ken 305-8575, Japan
Neuropediatrics 34:234-6. 2003..None of the polymorphisms was significantly associated with FS. Our results indicate that genomic variations in the LGI1 gene are not likely to be substantially involved in the etiology of FS in the Japanese population...
Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the JapaneseY Nishio
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan
Genes Immun 4:515-7. 2003..Ttransmission disequilibrium tests revealed an association of SPINK5 polymorphisms with AD but not with asthma. Our data indicate that the SPINK5 gene is associated with AD across ethnicities...
Haplotype analysis of a 100 kb region spanning TNF-LTA identifies a polymorphism in the LTA promoter region that is associated with atopic asthma susceptibility in JapanO Migita
Department of Medical Genetics, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba City, Ibaraki, Japan
Clin Exp Allergy 35:790-6. 2005..LTA, lymphotoxin-alpha; LTB, lymphotoxin-beta)...
Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levelsE Noguchi
Department of Medical Genetics, Institute of Basic Medical Sciences, Institute of Clinical Medicine, University of Tsukuba
J Allergy Clin Immunol 108:382-6. 2001..Defects in AICDA result in a hyper-IgM phenotype and lack of IgG, IgA, and IgE in both human beings and mice...
Association between serotonin 4 receptor gene polymorphisms and bipolar disorder in Japanese case-control samples and the NIMH Genetics Initiative Bipolar PedigreesT Ohtsuki
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Mol Psychiatry 7:954-61. 2002..These findings suggest that genomic variations in the HTR4 gene may confer susceptibility to mood disorder...
Mutation screening of the metabotropic glutamate receptor mGluR4 (GRM4) gene in patients with schizophreniaT Ohtsuki
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Japan
Psychiatr Genet 11:79-83. 2001..There was no statistically significant association between any mGluR4 gene polymorphism and schizophrenia. Thus, this study did not provide evidence for the contribution of the mGluR4 gene to schizophrenia in the Japanese...
ADAM33 polymorphisms are associated with asthma susceptibility in a Japanese populationE Noguchi
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan
Clin Exp Allergy 36:602-8. 2006..A disintegrin and metalloprotease 33 (ADAM33) was the first asthma susceptibility gene to be discovered by positional cloning in 2002...
Haplotypes of the 5' region of the IL-4 gene and SNPs in the intergene sequence between the IL-4 and IL-13 genes are associated with atopic asthmaE Noguchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan
Hum Immunol 62:1251-7. 2001..002). This data suggests that haplotypes composed of the 5' region polymorphisms in the IL-4 gene and SNPs in the intergene sequence between IL-4 and IL-13 influence the development of asthma...
Association of ZNF74 gene genotypes with age-at-onset of schizophreniaK Takase
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Tsukuba 305 8575, Japan
Schizophr Res 52:161-5. 2001..Subsequent analyses in another Japanese schizophrenic population (n=169) confirmed an age-at-onset association (p<0.0001). These findings suggest that the ZNF74 gene plays a role as one of the modifying factors for schizophrenia...
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based surveyK Yamakawa-Kobayashi
Department of Medical Genetics, Institute of Basic Medical Sciences, Institute of Community Medicine and Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Ibaraki 305 8575, Japan
Hum Mol Genet 8:331-6. 1999..4-14. 4%) in the subjects with low HDL cholesterol levels and 0.3% (95% CI: 0.1-0.8%) in the Japanese population. This suggests that familial hypoalphalipoproteinemia due to apo A-I gene mutations is relatively common...
Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophreniaT Ohtsuki
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, 305 8575, Ibaraki, Japan
Mol Psychiatry 6:211-6. 2001..Replication studies in independent samples are warranted...
Evidence for linkage between asthma/atopy in childhood and chromosome 5q31-q33 in a Japanese populationE Noguchi
Department of Pediatrics, University of Tsukuba, Japan
Am J Respir Crit Care Med 156:1390-3. 1997..In addition, our findings suggest that loci on chromosome 5q31-q33 are linked to the development of asthma in childhood...
New polymorphisms of haematopoietic prostaglandin D synthase and human prostanoid DP receptor genesE Noguchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba City, Japan
Clin Exp Allergy 32:93-6. 2002..It has been reported that mice lacking PGD receptor fail to develop the bronchial hyper-responsiveness upon ovalbumin challenge, suggesting that PGD2 functions as a mediator of allergic asthma...
Mutation screening of interferon regulatory factor 1 gene (IRF-1) as a candidate gene for atopy/asthmaE Noguchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Japan
Clin Exp Allergy 30:1562-7. 2000....
A polymorphism in the PDLIM5 gene associated with gene expression and schizophreniaYasue Horiuchi
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Biol Psychiatry 59:434-9. 2006..In the present study, we examined whether polymorphisms in PDLIM5 are associated with schizophrenia...
Associations between decay-accelerating factor polymorphisms and allergic respiratory diseasesT Kawai
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Clin Exp Allergy 39:1508-14. 2009..Decay-accelerating factor (DAF) is important for the regulation of the complement system and is a good candidate for determining the susceptibility to allergic diseases...
Insertion/deletion coding polymorphisms in hHAVcr-1 are not associated with atopic asthma in the Japanese populationE Noguchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Japan
Genes Immun 4:170-3. 2003..Our results indicate that hHAVcr-1 polymorphisms are not likely to be associated with the development of atopy-related phenotypes in the Japanese population...
A nonsynonymous polymorphism in cannabinoid CB2 receptor gene is associated with eating disorders in humans and food intake is modified in mice by its ligandsH Ishiguro
Department of Medical Genetics, Doctoral Program in Social and Environmental Medicine, Graduate School of Comprehensive Human Sciences, University of Tsukuba, 1 1 1 Tennoudai, Tsukuba, Ibaraki 305 8575, Japan
Synapse 64:92-6. 2010..04; Odds ratio 1.24, 95% CI, (1.01-1.53). These results suggest that cannabinoid CB2-R is involved in the endocannabinoid signaling mechanisms associated with the regulation of food intake and in eating disorders...
Significant evidence for linkage of mite-sensitive childhood asthma to chromosome 5q31-q33 near the interleukin 12 B locus by a genome-wide search in Japanese familiesY Yokouchi
Department of Medical Genetics, University of Tsukuba, Tsukuba, 305 8575, Japan
Genomics 66:152-60. 2000....
Involvement of cannabinoid CB2 receptor in alcohol preference in mice and alcoholism in humansH Ishiguro
Department of Medical Genetics, Doctoral Program in Social and Environmental Medicine, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Pharmacogenomics J 7:380-5. 2007..007; odds ratio 1.25, 95% CI, (1.06-1.47)). CB2 under such environment is associated with the physiologic effects of alcohol and CB2 antagonists may have potential as therapies for alcoholism...
RGS4 is not a susceptibility gene for schizophrenia in Japanese: association study in a large case-control populationH Ishiguro
Department of Medical Genetics, Doctoral Program in Social and Environmental Medicine, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, 305 8575, Japan
Schizophr Res 89:161-4. 2007..We conclude that the common haplotypes and SNPs of the RGS4 gene identified thus far are unlikely to contribute to the genetic susceptibility to schizophrenia in the Japanese population...
An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophreniaK Sakurai
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, 305 8575, Ibaraki, Japan
Mol Psychiatry 7:412-5. 2002..28-2.26) for the Leu/Leu genotype compared with the other genotypes. An association between this CHL1 gene polymorphism and schizophrenia supports the notion that cell adhesion molecules are involved in the etiology of schizophrenia...
Failure to confirm the association between the FEZ1 gene and schizophrenia in a Japanese populationMinori Koga
Department of Medical Genetics, Doctoral Program in Social and Environmental Medicine, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8575, Japan
Neurosci Lett 417:326-9. 2007..79, respectively). We concluded that the missense mutation Asp123Glu of the FEZ1 gene is unlikely to play a substantial role in the genetic susceptibility to schizophrenia...
WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorderT Ohtsuki
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan
J Affect Disord 58:11-7. 2000..It has been noted that heterozygous carriers of the WFS gene are 26-fold more likely to be hospitalized for depression, and it has been estimated that approximately 25% of all people hospitalized for depression may carry the WFS gene(s)...
An association study of asthma and total serum immunoglobin E levels for Toll-like receptor polymorphisms in a Japanese populationE Noguchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki Ken, Japan
Clin Exp Allergy 34:177-83. 2004..Toll-like receptors (TLRs) play important roles in the signalling of many pathogen-related molecules and endogenous proteins associated with immune activation...
The 4G/5G polymorphism of the plasminogen activator inhibitor-1 gene is associated with severe preeclampsiaN Yamada
Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan
J Hum Genet 45:138-41. 2000..03) and in the healthy volunteers (P = 0.02). These results suggest that the presence of the 4G/4G genotype of the PAI-1 gene is one of the risk factors for preeclampsia...
Mutation and association analysis of the Fyn kinase gene with alcoholism and schizophreniaH Ishiguro
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Japan
Am J Med Genet 96:716-20. 2000..Results of the present study did not provide evidence for the involvement of the genomic Fyn gene mutations in alcoholism or schizophrenia. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:716-720, 2000...
Failure to find associations of the CA repeat polymorphism in the first intron and the Gly-63/Glu-63 polymorphism of the neurotrophin-3 gene with schizophreniaT Arinami
Department of Medical Genetics, University of Tsukuba, Ibaraki, Japan
Psychiatr Genet 6:13-5. 1996..We found similar allele and genotype frequencies of both polymorphisms between the schizophrenic and control groups. We failed to support associations between the polymorphisms of the neurotrophin-3 gene analyzed and schizophrenia...
Association analysis of the pituitary adenyl cyclase activating peptide gene (PACAP) on chromosome 18p11 with schizophrenia and bipolar disordersH Ishiguro
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Japan
J Neural Transm 108:849-54. 2001..This study did not provide evidence for the contribution of the PACAP gene to the etiology of schizophrenia or bipolar disorders in the Japanese population...
No evidence for association between the -112G/A polymorphism of UGRP1 and childhood atopic asthmaZ Jian
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Japan
Clin Exp Allergy 33:902-4. 2003..CONCLUSION: Our findings indicate that the UGRP1-112G/A polymorphism does not play a substantial role in genetic predisposition to childhood asthma in this Japanese population...
A structural polymorphism of human dopamine D2 receptor, D2(Ser311-->Cys)M Itokawa
Department of Medical Genetics, University of Tsukuba, Ibaraki, Japan
Biochem Biophys Res Commun 196:1369-75. 1993..023, in 110 controls though the difference was not significant. The schizophrenics with Cys311 tended to have a lower age of onset and a positive family history of schizophrenia...
Mutation analysis of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) in schizophreniaK Sakurai
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, 305 8575, Ibaraki Ken, Japan
Neurosci Lett 296:168-70. 2000..No significant association was suggested by case-control comparisons. Results indicate that genomic variations of the GRIN1 gene are not likely to be involved substantially in the etiology of schizophrenia...
Linkage of human narcolepsy with HLA association to chromosome 4p13-q21J Nakayama
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, 305 8575, Japan
Genomics 65:84-6. 2000..No other loci including hypocretin, hypocretin receptor 1, and hypocretin receptor 2 had lod scores greater than 1.0. The present study suggests that chromosome 4p13-q21 contains a second locus for HLA-associated human narcolepsy...
Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophreniaMinori Koga
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Hum Mol Genet 18:2483-94. 2009..Psychotogenic drugs lowered Smarca2 expression while antipsychotic drugs increased it in the mouse brain. These findings support the existence of a role for BRM in the pathophysiology of schizophrenia...
The proportion of fetal nucleated red blood cells in maternal blood: estimation by FACS analysisS Sohda
Department of Obstetrics and Gynecology, University of Tsukuba, Ibaraki, Japan
Prenat Diagn 17:743-52. 1997..Average frequencies of fetal cells in maternal blood were 8.1 x 10(-5) and 1.6 x 10(-5) in the first trimester and the second/third trimesters. However, most of the NRBCs in maternal blood are maternal in origin...
Mutation and association analysis of the interferon regulatory factor 2 gene (IRF2) with atopic dermatitisY Nishio
Department of Medical Genetics Institute of Basic Medical Sciences, University of Tsukuba, Japan
J Hum Genet 46:664-7. 2001..02 and P = 0.007, respectively). Our data suggest that IRF-2 plays some role in the development of AD in the Japanese population...
No association between atopy/asthma and the ILe50Val polymorphism of IL-4 receptorE Noguchi
Department of Pediatrics, Institute of Clinical Medicine, and Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan
Am J Respir Crit Care Med 160:342-5. 1999..Our findings indicate that the Ile50Val polymorphism of IL4R does not play a substantial role in genetic predisposition for the etiology of atopy or asthma in this Japanese population...
ADRB2 polymorphisms and asthma susceptibility: transmission disequilibrium test and meta-analysisOhsuke Migita
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, 1 1 1 Tennodai, Tsukuba City, Ibaraki 305 8575, Japan
Int Arch Allergy Immunol 134:150-7. 2004..In vitro studies have shown that these missense polymorphisms can affect ADRB2 function...
Association of a haplotype block spanning SDAD1 gene and CXC chemokine genes with allergic rhinitisJian Zhang
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba City, Ibaraki, Japan
J Allergy Clin Immunol 115:548-54. 2005..002). CONCLUSION: Our results suggests that genetic variations in a haplotype block spanning the SDA1 domain containing 1 and CXC chemokine genes on 4q21 may contribute to development of SAR in the Japanese population...
Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disordersYasue Horiuchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Biol Psychiatry 55:40-5. 2004..The GABRA1 gene encodes one of the subunits of GABA-A receptor and is located on human chromosome 5q34-q35, which is a region reportedly linked to mood disorders. We examined the GABRA1 gene as a candidate for mood disorders...
An association between asthma and TNF-308G/A polymorphism: meta-analysisTakeshi Aoki
Department of Pediatrics, Tsukuba Medical Center Hospital, Tsukuba, Japan
J Hum Genet 51:677-85. 2006..46 (95% confidence interval [CI], 1.27-1.68, P=0.0000001) and 1.46 (95% CI, 1.20-1.77, P=0.00014) respectively. Our data further support the importance of the TNF region in the development of asthma...
Mutation analysis of the retinoid X receptor beta, nuclear-related receptor 1, and peroxisome proliferator-activated receptor alpha genes in schizophrenia and alcohol dependence: possible haplotype association of nuclear-related receptor 1 gene to alcoholHiroki Ishiguro
Department of Medical Genetics, Institute of Basic Medical Science, University of Tsukuba, Ibaraki, Japan
Am J Med Genet 114:15-23. 2002....
Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patientsJunko Nakayama
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki Ken, 305 8575, Japan
Neurosci Lett 343:117-20. 2003..None of these polymorphic alleles were significantly associated with FS. Our results indicate that genomic variations of GABRG2 are not likely to be substantially involved in the etiology of FS in the Japanese population...
Expression profiling of genes related to asthma exacerbationsT Aoki
Department of Pediatrics, Tsukuba Medical Center Hospital, Tsukuba City, Ibaraki, Japan
Clin Exp Allergy 39:213-21. 2009..Asthma is a chronic airway inflammatory disease; however, the molecular mechanisms that underlie asthma exacerbation are only partially understood...
Association between a polymorphism in cysteinyl leukotriene receptor 2 on chromosome 13q14 and atopic asthmaHiromi Fukai
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, 305 8575, Japan
Pharmacogenetics 14:683-90. 2004..We characterized the genomic structure of humans CYSLTR2, determined the putative major promoter region and conducted association studies pertaining to polymorphisms in CYSLTR2 and asthma...
A novel susceptibility locus for moyamoya disease on chromosome 8q23Kaoru Sakurai
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba 305 8575, Japan
J Hum Genet 49:278-81. 2004..6] and suggestive evidence for linkage to 12p12 (MLS=2.3). The present study revealed a novel locus for moyamoya disease...
Monoallelic and unequal allelic expression of the HTR2A gene in human brain and peripheral lymphocytesYoshiko Fukuda
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Biol Psychiatry 60:1331-5. 2006..CONCLUSIONS: The present study revealed a tissue-specific modification of HTR2A expression, which makes allelic and epiallelic analyses necessary for genetic epidemiologic and pharmacogenomic studies of HTR2A...
Associations between serum high-density lipoprotein cholesterol or apolipoprotein AI levels and common genetic variants of the ABCA1 gene in Japanese school-aged childrenKimiko Yamakawa-Kobayashi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan
Metabolism 53:182-6. 2004..Similarly, the M771 allele appears to be anti-atherogenic, although the frequency of the M771 allele is low...
Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I geneK Nakata
Department of Medical Genetics, University of Tsukuba, Japan
Biochem Biophys Res Commun 196:950-5. 1993..The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene...
Replication study and meta-analysis of the genetic association of GRM3 gene polymorphisms with schizophrenia in a large Japanese case-control populationTalal Albalushi
Department of Medical Genetics, Doctoral Program in Social and Environmental Medicine, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Am J Med Genet B Neuropsychiatr Genet 147:392-6. 2008..Our data indicate that SNPs previously reported to be associated with schizophrenia do not contribute to genetic susceptibility to schizophrenia...
Replication study of association between ADCYAP1 gene polymorphisms and schizophreniaMinori Koga
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Psychiatr Genet 20:123-5. 2010..53-0.86). It is concluded that single-nucleotide polymorphisms, including Asp54Gly, of the ADCYAP1 gene are unlikely to play a sizeable role in the genetic susceptibility to schizophrenia...
Brain cannabinoid CB2 receptor in schizophreniaHiroki Ishiguro
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Biol Psychiatry 67:974-82. 2010..Neural endocannabinoid function appears to be involved in schizophrenia. Two endocannabinoid receptors, CB1 and CB2, are found in the brain and elsewhere in the body. We investigated roles of CB2 in schizophrenia...
Relation of the -514C/T polymorphism in the hepatic lipase gene to serum HDL and LDL cholesterol levels in postmenopausal women under hormone replacement therapyKimiko Yamakawa-Kobayashi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba 305 8575, Japan
Atherosclerosis 162:17-21. 2002..0001), and HDL-C and apo A-I levels were increased significantly (P=0.0001). However, the degrees of change in lipid and lipoprotein levels due to HRT did not differ significantly between the HL genotypes...
Supportive evidence for reduced expression of GNB1L in schizophreniaHiroki Ishiguro
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8575, Japan
Schizophr Bull 36:756-65. 2010..In the present study, we screened for genes located in the 22q11DS region that are expressed at lower levels in postmortem prefrontal cortex of patients with schizophrenia than in those of controls...
Association study between alcoholism and endocannabinoid metabolic enzyme genes encoding fatty acid amide hydrolase and monoglyceride lipase in a Japanese populationShinya Iwasaki
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Psychiatr Genet 17:215-20. 2007..Owing to the importance of endocannabinoid system in addiction, the Pro129Thr polymorphism in the FAAH gene has reportedly been associated with substance abuse and dependence in a Caucasian population...
Variation in a bicarbonate co-transporter gene family member SLC4A7 is associated with propensity to addictions: a study using fine-mapping and three samplesHiroki Ishiguro
Molecular Neurobiology Branch, NIH IRP, NIDA, DHHS, Baltimore, MD, USA
Addiction 102:1320-5. 2007..We have focused attention on 'reproducible substance abuse vulnerability' (rSA) genomic regions, where linkage and association studies performed in several population provide evidence for such variations...
A polymorphism of the metabotropic glutamate receptor mGluR7 (GRM7) gene is associated with schizophreniaTsuyuka Ohtsuki
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8577, Japan
Schizophr Res 101:9-16. 2008..The GRM7 gene is located on human chromosome 3p26, which has been suggested by linkage analysis to contain a susceptibility locus for schizophrenia...
Association of PTPRB gene polymorphism with drug addictionHiroki Ishiguro
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan
Am J Med Genet B Neuropsychiatr Genet 147:1167-72. 2008..Thus, PTPRB is an addiction-associated and drug-regulated gene whose variants may affect substance abuse vulnerability...
Positional identification of an asthma susceptibility gene on human chromosome 5q33Emiko Noguchi
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, 1 1 1 Tennoudai, Tsukuba, Ibaraki Ken, 305 8577, Japan
Am J Respir Crit Care Med 172:183-8. 2005..This area of linkage includes a region homologous to a mouse area that contains a locus involved in regulation of airway hyperreactivity...
Molecular genetics of febrile seizuresNobuaki Iwasaki
Departments of Pediatrics, Institute of Clinical Medicine, and Medical Genetics, Institute of Basic Medicine, University of Tsukuba, Japan
Epilepsia 43:32-5. 2002..In contrast to the FEB1, FEB2, and GEFS+ genetic loci, linkage to FEB4 was suggested in nuclear FS families, indicating that FEB4 may be the most common linkage locus in FS families...
Determination of structure and transcriptional regulation of CYSLTR1 and an association study with asthma and rhinitisJian Zhang
Department of Medical Genetics, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba City, Japan
Pediatr Allergy Immunol 17:242-9. 2006..Our findings indicate that CYSLTR1 polymorphisms are not likely to be involved in the development of asthma/rhinitis, but it is possible that these polymorphisms could influence drug responses in individuals with atopic diseases...
Association analysis of nine missense polymorphisms in the coagulation factor V gene with severe preeclampsia in pregnant Japanese womenHideki Watanabe
Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan
J Hum Genet 47:131-5. 2002....
Association between TNFA polymorphism and the development of asthma in the Japanese populationEmiko Noguchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba City, Japan
Am J Respir Crit Care Med 166:43-6. 2002..0055; -1031T-863C-857C haplotype, p = 0.0002). Our results suggest that TNFA or nearby genes, including those in the major histocompatibility complex region, may contribute to the development of asthma in the Japanese population...
The promoter polymorphism in the eosinophil cationic protein gene and its influence on the serum eosinophil cationic protein levelEmiko Noguchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Japan
Am J Respir Crit Care Med 167:180-4. 2003..Although ECP polymorphisms are not likely to be involved in the development of asthma, measurement of ECP levels for the assessment of asthma activity may be improved when done in combination with genotyping of the -393C/T polymorphism...
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15J Nakayama
Department of Medical Genetics, Institute of Basic Medical Sciences, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan
Hum Mol Genet 9:87-91. 2000..These findings indicate that there is a gene on chromosome 5q14-q15 that confers susceptibility to FSs and we call this gene FEB4...
Candidate genes for atopic asthma: current results from genome screensE Noguchi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan
Am J Pharmacogenomics 1:251-61. 2001..It is hoped that this accumulation of data will lead to improved genetic testing and assist in the development of new drugs...
Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control studyHisako Enomoto
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, 1 1 1 Tennodai, Tsukuba, Ibaraki, Japan
J Hum Genet 53:615-21. 2008..The combined P value for the family and case-control data was significant for the S2554X and combined null mutations. Our data further support the importance of FLG in AD development...
Evidence for an association between plasma platelet-activating factor acetylhydrolase deficiency and increased risk of childhood atopic asthmaSeiko Ito
Department of Medical Genetics, Institute of Basic Medical Sciences, Institute of Clinical Medicine, University of Tsukuba, Japan
J Hum Genet 47:99-101. 2002..Results of the genotypic transmission test were significant, and the Phe279/Phe279 genotype was transmitted preferentially to asthmatic children. Our data support an association between deficiency in PAFAH activity and atopic asthma...
Association of the HSPG2 gene with neuroleptic-induced tardive dyskinesiaAoi Syu
Department of Medical Genetics and Department of Molecular Neurobiology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
Neuropsychopharmacology 35:1155-64. 2010..These findings suggest that the HSPG2 gene is involved in neuroleptic-induced TD and higher expression of HSPG2, probably even after antipsychotic treatment, and may be associated with TD susceptibility...
Mutation analysis of the calpastatin gene (CAST) in patients with Alzheimer's diseaseJunko Nakayama
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki ken 305 8575, Japan
Neurosci Lett 320:77-80. 2002....
Failure to find an association between CD14-159C/T polymorphism and asthma: a family-based association test and meta-analysisFumichika Nishimura
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan
Allergol Int 55:55-8. 2006..Previous studies have reported that -159C/T, a promoter polymorphism of CD14, is associated with total serum IgE levels and atopy, but other studies have shown conflicting results...
Relationship between serum HDL-C levels and common genetic variants of the endothelial lipase gene in Japanese school-aged childrenKimiko Yamakawa-Kobayashi
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, 305 8575, Tsukuba, Japan
Hum Genet 113:311-5. 2003..Our data support the hypothesis that variations in the EL gene are one of the genetic determinants of serum HDL-C levels...
Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humansJunko Nakayama
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki ken 305 8575, Japan
Neurosci Lett 329:249-51. 2002..Our study failed to provide evidence supporting a causal relation between the SCN2A mutation/polymorphism and FS or FS associated with afebrile seizures including GEFS+ in the Japanese population...
Lack of evidence for associations between plasma platelet-activating factor acetylhydrolase deficiency and schizophreniaTsuyuka Ohtsuki
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki Ken, 305 8575, Japan
Psychiatry Res 109:93-6. 2002..These observations indicate that functional differences in the plasma form of PAFAH do not play a substantial role in the etiology of schizophrenia. However, the present study leaves open the possibility that other isoforms are involved...
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizuresJunko Nakayama
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8575, Japan
Ann Neurol 52:654-7. 2002..Our results suggest that a loss-of-function mutation in MASS1 might be responsible for the seizure phenotypes, though it is not likely that MASS1 contributed to the cause of febrile seizures in most of our families...
Molecular genetics of febrile seizuresJunko Nakayama
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki 305 8575, Japan
Epilepsy Res 70:S190-8. 2006..To find a true association, larger sample size and newer methodologic refinements are recommended...
Proteome analysis reveals elevated serum levels of clusterin in patients with preeclampsiaHideki Watanabe
Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan
Proteomics 4:537-43. 2004..1.30 +/- 0.46 times reference level in controls, P < 0.001). Proteomic analysis of serum proteins is a promising tool for studying preeclampsia pathophysiology and identifying proteins associated with preeclampsia...
Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase (ALAP) gene and possible association with hypertensionNao Yamamoto
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan
Hum Mutat 19:251-7. 2002..3 for presence of the Arg allele at codon 528, in comparison with presence of the Lys/Lys genotype (P = 0.004). These findings support involvement of ALAP in the regulation of blood pressure...
Autosomal linkage analysis of a Japanese single multiplex schizophrenia pedigree reveals two candidate loci on chromosomes 4q and 3qNaoshi Kaneko
Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
Am J Med Genet B Neuropsychiatr Genet 144:735-42. 2007..On 3q, the haplotype spanning about 20 cM was shared by five genotyped individuals with schizophrenia. We obtained two candidate regions of major susceptibility loci for schizophrenia on chromosomes 3q and 4q...
Association between chromogranin b gene polymorphisms and schizophrenia in the Japanese populationYoshimi Iijima
National Institute of Mental Health YI, National Center of Neurology and Psychiatry, Ichikawa, Chiba, Japan
Biol Psychiatry 56:10-7. 2004....
Family-based association study of markers on chromosome 22 in schizophrenia using African-American, European-American, and Chinese familiesSakae Takahashi
Department of Psychiatry, Massachusetts Mental Health Center, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet B Neuropsychiatr Genet 120:11-7. 2003..However, we found no significant association for the African-American sample. In conclusion, our data provide further support for the idea that the region around D22S683 contains a susceptibility gene for schizophrenia...
Family-based association study of the NOTCH4 gene in schizophrenia using Japanese and Chinese samplesSakae Takahashi
Department of Psychiatry, Massachusetts Mental Health Center, Harvard Medical School, Boston, Massachusetts 02115, USA
Biol Psychiatry 54:129-35. 2003..A family based association study in a British sample found the NOTCH4 gene to be associated with schizophrenia; however, all six replication studies failed to confirm the finding...
