Experts and Doctors on genetic polymorphism in Japan


Locale: Japan
Topic: genetic polymorphism

Top Publications

  1. Yasuda T, Nadano D, Sawazaki K, Kishi K. Genetic polymorphism of human deoxyribonuclease II (DNase II): low activity levels in urine and leukocytes are due to an autosomal recessive allele. Ann Hum Genet. 1992;56:1-10 pubmed
  2. Asada N, Fujimoto K, Tanaka M, Ohnishi E. Genetic polymorphism of prophenoloxidase A1 in Drosophila melanogaster. Jpn J Genet. 1993;68:219-27 pubmed
    ..In the electropherograms, hybrids between the types differing in mobility exhibited 3 bands, indicating that A1 is a dimeric protein. The gene for A1 is expressed through larval, pupal and adult stages. ..
  3. Ogasawara K, Bannai M, Saitou N, Yabe R, Nakata K, Takenaka M, et al. Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes. Hum Genet. 1996;97:777-83 pubmed
    ..These results may be useful for the establishment of ABO genotyping, and these newly described ABO alleles would be advantageous indicators for population studies. ..
  4. Odawara M, Tachi Y, Yamashita K. Paraoxonase polymorphism (Gln192-Arg) is associated with coronary heart disease in Japanese noninsulin-dependent diabetes mellitus. J Clin Endocrinol Metab. 1997;82:2257-60 pubmed
    ..This association was independent of other known risk factors for CHD, suggesting an important role of the paraoxonase B isoform in the pathogenesis of CHD. ..
  5. Kusuda Y, Hamaguchi K, Mori T, Shin R, Seike M, Sakata T. Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. J Hum Genet. 2000;45:86-91 pubmed
    ..Therefore, the accumulation of the types of mutations in Japanese patients with WD will facilitate the fast and effective genetic diagnosis of WD in Japanese patients. ..
  6. Matsuo K, Suzuki R, Hamajima N, Ogura M, Kagami Y, Taji H, et al. Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma. Blood. 2001;97:3205-9 pubmed
    ..Further studies to confirm the association and detailed biologic mechanisms are now required. ..
  7. Itokawa M, Yamada K, Iwayama Shigeno Y, Ishitsuka Y, Detera Wadleigh S, Yoshikawa T. Genetic analysis of a functional GRIN2A promoter (GT)n repeat in bipolar disorder pedigrees in humans. Neurosci Lett. 2003;345:53-6 pubmed
    ..These results support the hypothesis that a hypoglutamatergic state is involved in the pathogenesis of bipolar affective disorder. ..
  8. Kakinuma H, Tsuchiya N, Habuchi T, Ohyama C, Matsuura S, Wang L, et al. Serum sex steroid hormone levels and polymorphisms of CYP17 and SRD5A2: implication for prostate cancer risk. Prostate Cancer Prostatic Dis. 2004;7:333-7 pubmed
    ..The linear trends across the CYP17 genotypes in serum-free testosterone and androstenedione levels were found, suggesting the importance of the polymorphism of CYP17 in determining the circulating androgen levels. ..
  9. Tsuchiya N, Satoh S, Tada H, Li Z, Ohyama C, Sato K, et al. Influence of CYP3A5 and MDR1 (ABCB1) polymorphisms on the pharmacokinetics of tacrolimus in renal transplant recipients. Transplantation. 2004;78:1182-7 pubmed

More Information

Publications250 found, 100 shown here

  1. Ide S, Kobayashi H, Tanaka K, Ujike H, Sekine Y, Ozaki N, et al. Gene polymorphisms of the mu opioid receptor in methamphetamine abusers. Ann N Y Acad Sci. 2004;1025:316-24 pubmed
    ..Further analysis should be capable of identifying associations between the OPRM variations and MAP dependence/psychosis. ..
  2. Hussein A, Yamaguchi T, Nakamoto K, Iseki M, Tokoro M. Multiple-subgenotype infections of Giardia intestinalis detected in Palestinian clinical cases using a subcloning approach. Parasitol Int. 2009;58:258-62 pubmed publisher
    ..Therefore, subcloning approach is recommended in genotyping studies, especially in those conducted in giardiasis-endemic areas, where the repeated and cumulative infections could be commonly expected. ..
  3. Taniyama Y, Takeuchi S, Kuroda Y. Genetic polymorphisms and oral cancer. J UOEH. 2010;32:221-36 pubmed
    ..Although there are many reports on the polymorphisms related to oral cancer, the results of these reports are controversial. Further studies are needed to evaluate the interactions between carcinogens and the genetic polymorphisms. ..
  4. Goto J, Watanabe M, Ichikawa Y, Yee S, Ihara N, Endo K, et al. Machado-Joseph disease gene products carrying different carboxyl termini. Neurosci Res. 1997;28:373-7 pubmed
    ..Genetic analysis results suggest that Japanese MJD mutations are associated with allele A. ..
  5. Nakamura I, Ikegawa S, Okawa A, Okuda S, Koshizuka Y, Kawaguchi H, et al. Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). Hum Genet. 1999;104:492-7 pubmed
    ..Thus, our study suggests that NPPS plays an important role in the etiology of human OPLL...
  6. Kawakami K, Omura K, Kanehira E, Watanabe Y. Polymorphic tandem repeats in the thymidylate synthase gene is associated with its protein expression in human gastrointestinal cancers. Anticancer Res. 1999;19:3249-52 pubmed
    ..Our results suggest the link between TS genotype and TS protein expression. This link might offer an advantage for selection of patients to receive 5-FU-based chemotherapy. ..
  7. Tachikawa H, Harada S, Kawanishi Y, Okubo T, Shiraishi H. Novel polymorphisms of the human cholecystokinin A receptor gene: an association analysis with schizophrenia. Am J Med Genet. 2000;96:141-5 pubmed
    ..Am J. Med Genet. (Neuropsychiatr. Genet.) 96:141-145, 2000. ..
  8. Akamizu T, Sale M, Rich S, Hiratani H, Noh J, Kanamoto N, et al. Association of autoimmune thyroid disease with microsatellite markers for the thyrotropin receptor gene and CTLA-4 in Japanese patients. Thyroid. 2000;10:851-8 pubmed
  9. Kimura S, Okabayashi Y, Inushima K, Kochi T, Yutsudo Y, Kasuga M. Alcohol and aldehyde dehydrogenase polymorphisms in Japanese patients with alcohol-induced chronic pancreatitis. Dig Dis Sci. 2000;45:2013-7 pubmed
    ..These results indicate that genetic polymorphism of the ALDH2 gene influences the risk of developing alcoholic pancreatitis in Japanese. ..
  10. Hou L, Osei Hyiaman D, Yu H, Ren Z, Zhang Z, Wang B, et al. Association of a 27-bp repeat polymorphism in ecNOS gene with ischemic stroke in Chinese patients. Neurology. 2001;56:490-6 pubmed
    ..0%; OR = 2.44; 95% CI = 1.60 to 3.71, p < 0.0001). The ecNOS a allele in intron 4 may be an independent risk factor for ischemic stroke in the Chinese population studied, especially in those lacking other conventional risk factors. ..
  11. Yoshida K, Ito K, Sato K, Takahashi H, Kamata M, Higuchi H, et al. Influence of the serotonin transporter gene-linked polymorphic region on the antidepressant response to fluvoxamine in Japanese depressed patients. Prog Neuropsychopharmacol Biol Psychiatry. 2002;26:383-6 pubmed
    ..010). The present study suggests that fluvoxamine is not less effective in depressive patients carrying the s allele than in the ones carrying the l allele and it is not less effective in Japanese than in Caucasians. ..
  12. Nakamura S, Aoshima T, Ikeda M, Sekido Y, Shimokata K, Niwa T. Simultaneous detection of methylenetetrahydrofolate reductase gene polymorphisms, C677T and A1298C, by melting curve analysis with LightCycler. Anal Biochem. 2002;306:340-3 pubmed
  13. Kamio K, Matsushita I, Hijikata M, Kobashi Y, Tanaka G, Nakata K, et al. Promoter analysis and aberrant expression of the MUC5B gene in diffuse panbronchiolitis. Am J Respir Crit Care Med. 2005;171:949-57 pubmed
    ..The possible involvement of MUC5B gene in DPB was demonstrated. A further role of the MUC5B polymorphism in its pathogenesis should be studied in the future. ..
  14. Kaminagayoshi T, Nakao K, Yashiki S, Sonoda S, Ohba N, Sakamoto T. Analysis of HLA class I and class II gene polymorphisms in Japanese patients with human T-cell lymphotropic virus type 1-associated uveitis. Ocul Immunol Inflamm. 2005;13:199-204 pubmed
    ..The relative frequencies of these HLA alleles did not differ among the three groups. The results suggest that HLA class I and class II genes do not contribute to susceptibility to HAU. ..
  15. Kaneda H, Taguchi J, Kuwada Y, Hangaishi M, Aizawa T, Yamakado M, et al. Coronary artery spasm and the polymorphisms of the endothelial nitric oxide synthase gene. Circ J. 2006;70:409-13 pubmed
    ..88) as significant predictors of coronary spasm. In the patients with NOS4a, both the induced and spontaneous contractions were augmented. The present study results indicated that NOS4a could be a good marker for coronary artery spasm. ..
  16. Yoshino K, Iimura E, Saijo K, Iwase S, Fukami K, Ohno T, et al. Essential role for gene profiling analysis in the authentication of human cell lines. Hum Cell. 2006;19:43-8 pubmed
    ..Hence, STR profiling of human cell lines used in published research will likely be a prerequisite for publication in the future, so that the problem of misidentification of cell lines can be eliminated. ..
  17. Ishiguro H, Koga M, Horiuchi Y, Inada T, Iwata N, Ozaki N, et al. PICK1 is not a susceptibility gene for schizophrenia in a Japanese population: association study in a large case-control population. Neurosci Res. 2007;58:145-8 pubmed
    ..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. ..
  18. Tamaki S, Kawakami M, Yamanaka Y, Shimomura H, Imai Y, Ishida J, et al. Relationship between soluble MICA and the MICA A5.1 homozygous genotype in patients with oral squamous cell carcinoma. Clin Immunol. 2009;130:331-7 pubmed publisher
    ..1 allele when compared to healthy subjects and also more likely to be homozygous for this allele (p=0.041). Patients with the homozygous A5.1 genotype had higher levels of soluble MICA (p=0.031) and a lower survival rate (p=0.026). ..
  19. Matsuda M, Shigematsu M, Tazumi A, Sekizuka T, Takamiya S, Millar B, et al. Cloning and structural analysis of the full-length cytolethal distending toxin (cdt) gene operon from Campylobacter lari. Br J Biomed Sci. 2008;65:195-9 pubmed
    ..lari isolates, as well as in C. jejuni and C. coli. No PCR amplicons were generated with urease-positive thermophilic campylobacters (UPTC; n=10) using the primer pair...
  20. Harada H, Kimura A, Nishi H, Sasazuki T, Toshima H. A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families. Biochem Biophys Res Commun. 1993;194:791-8 pubmed
    ..These observations strongly suggest that the 778Asp to Gly mutation is the cause of HCM in these affected individuals. ..
  21. Kajiyama N, Saito Y, Miyamoto Y, Yoshimura M, Nakayama M, Harada M, et al. Lack of association between T-786-->C mutation in the 5'-flanking region of the endothelial nitric oxide synthase gene and essential hypertension. Hypertens Res. 2000;23:561-5 pubmed
  22. Ogawa S, Emi M, Shiraki M, Hosoi T, Ouchi Y, Inoue S. Association of estrogen receptor beta (ESR2) gene polymorphism with blood pressure. J Hum Genet. 2000;45:327-30 pubmed
    ..032). These data suggest that genetic variation at the ESR2 locus may be associated with some determinants of blood pressure, and that there is a possible involvement of this polymorphism in causing hypertension in Japanese women. ..
  23. Ikeda T, Mabuchi A, Fukuda A, Hiraoka H, Kawakami A, Yamamoto S, et al. Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis. J Hum Genet. 2001;46:538-43 pubmed
    ..43) and is thought to confer a minor susceptibility to knee OA within the Japanese population. Haplotype analysis showed no evidence of association with the two genes, however, excluding them as major susceptibility loci for knee OA. ..
  24. Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi Y, Hosaka N, et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet. 2001;46:722-9 pubmed
    ..Thus, MHA, SBS, and FTNS appear to represent a class of allelic disorders with variable phenotypic diversity. ..
  25. Nakamura H, Miyagawa K, Ogino K, Endo T, Imai T, Ozasa K, et al. High contribution contrast between the genes of eosinophil peroxidase and IL-4 receptor alpha-chain in Japanese cedar pollinosis. J Allergy Clin Immunol. 2003;112:1127-31 pubmed
    ..Japanese cedar pollinosis is the most common form of hayfever in Japan in spring and has remarkably increased since 1960...
  26. Suto J, Takahashi Y, Sekikawa K. Quantitative trait locus analysis of plasma cholesterol and triglyceride levels in C57BL/6J x RR F2 mice. Biochem Genet. 2004;42:347-63 pubmed
    ..However, we could not correlate Apoal polymorphisms with the occurrence of QTLs in these three sets of F2 mice. ..
  27. Tsuchiya N, Wang L, Horikawa Y, Inoue T, Kakinuma H, Matsuura S, et al. CA repeat polymorphism in the insulin-like growth factor-I gene is associated with increased risk of prostate cancer and benign prostatic hyperplasia. Int J Oncol. 2005;26:225-31 pubmed
    ..In conclusion, the 19-allele of IGF-I appears to increase the risk of prostate cancer and BPH with a gene dosage effect in the Japanese population. ..
  28. Hamano E, Hijikata M, Itoyama S, Quy T, Phi N, Long H, et al. Polymorphisms of interferon-inducible genes OAS-1 and MxA associated with SARS in the Vietnamese population. Biochem Biophys Res Commun. 2005;329:1234-9 pubmed
    ..0195). Our findings suggest that polymorphisms of two IFN-inducible genes OAS-1 and MxA might affect susceptibility to the disease and progression of SARS at each level. ..
  29. Horiuchi Y, Arai M, Niizato K, Iritani S, Noguchi E, Ohtsuki T, et al. A polymorphism in the PDLIM5 gene associated with gene expression and schizophrenia. Biol Psychiatry. 2006;59:434-9 pubmed
    ..007). An EMSA showed that the different alleles of the rs2433320 polymorphism bound differently to nuclear proteins. These results suggest that PDLIM5 might play a role in genetic susceptibility to schizophrenia. ..
  30. Tanabe N, Amano S, Tatsumi K, Kominami S, Igarashi N, Shimura R, et al. Angiotensin-converting enzyme gene polymorphisms and prognosis in chronic thromboembolic pulmonary hypertension. Circ J. 2006;70:1174-9 pubmed
    ..013), pulmonary vascular resistance (p=0.008), and D allele carrier status (p=0.021) were independent predictors of survival. ACE D allele carrier is possibly one of the prognostic factors for medically treated CTEPH patients. ..
  31. Takao T, Tachikawa H, Kawanishi Y, Mizukami K, Asada T. CLOCK gene T3111C polymorphism is associated with Japanese schizophrenics: a preliminary study. Eur Neuropsychopharmacol. 2007;17:273-6 pubmed
    ..It is important to explore the association between CLOCK and dopamine function, and to examine the impact of CLOCK on phenotypes such as symptoms and drug response in patients with schizophrenia. ..
  32. Albalushi T, Horiuchi Y, Ishiguro H, Koga M, Inada T, Iwata N, et al. Replication study and meta-analysis of the genetic association of GRM3 gene polymorphisms with schizophrenia in a large Japanese case-control population. Am J Med Genet B Neuropsychiatr Genet. 2008;147:392-6 pubmed
    ..Our data indicate that SNPs previously reported to be associated with schizophrenia do not contribute to genetic susceptibility to schizophrenia. ..
  33. Naito H, Kamijima M, Yamanoshita O, Nakahara A, Katoh T, Tanaka N, et al. Differential effects of aging, drinking and exercise on serum cholesterol levels dependent on the PPARA-V227A polymorphism. J Occup Health. 2007;49:353-62 pubmed
    ..These results suggest that the influence of drinking, aging or exercise on TC, LDL-C and HDL-C levels in the A227 carriers may be different from those in the PPARA-WT subjects. ..
  34. Yanai H, Savitsky D, Tamura T, Taniguchi T. Regulation of the cytosolic DNA-sensing system in innate immunity: a current view. Curr Opin Immunol. 2009;21:17-22 pubmed publisher
    ..Here, we summarize our current understanding of how cytosolic DNA receptors contribute to the regulation of innate immune responses and discuss the complexity of the cytosolic DNA-sensing system as well as its future prospects. ..
  35. Maruyama S, Nohira Koike C, Minaguchi K, Nambiar P. MtDNA control region sequence polymorphisms and phylogenetic analysis of Malay population living in or around Kuala Lumpur in Malaysia. Int J Legal Med. 2010;124:165-70 pubmed publisher
    ..The present database may help not only in personal identification but also in determining geographic origin in forensic casework in Malaysian, Southeast Asian and East Asian populations. ..
  36. Kawaguchi M, Kokubu F, Fujita J, Huang S, Hizawa N. Role of interleukin-17F in asthma. Inflamm Allergy Drug Targets. 2009;8:383-9 pubmed
    ..Hence, IL-17F may have a crucial role in allergic airway inflammation, and have important therapeutic implications in asthma. ..
  37. Miura K, Masuzaki H, Ishimaru T, Niikawa N, Jinno Y. A HhaI/BstUI polymorphism in a novel gene at human chromosome 11p15.5. J Hum Genet. 1998;43:283-4 pubmed
    ..This polymorphism will be useful in the allelic analysis of expression and methylation of the novel gene. ..
  38. Watanabe J, Shimada T, Gillam E, Ikuta T, Suemasu K, Higashi Y, et al. Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer. Pharmacogenetics. 2000;10:25-33 pubmed
    ..Thus, inter-individual differences in activation of procarcinogens or metabolism of oestrogen originating from genetic polymorphisms of the human CYP1B1 gene may contribute to the susceptibility of human cancers. ..
  39. Ota M, Katsuyama Y, Kimura A, Tsuchiya K, Kondo M, Naruse T, et al. 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. 2001;71:263-70 pubmed
    ..These results exclude the possibility of involvement of the TNFA genes (TNF-alpha) in the development of RA, which was suggested previously to be a strong candidate for RA in the class III region. ..
  40. Kanai T, Fujii T, Keicho N, Tokunaga K, Yamashita T, Hyodo H, et al. Polymorphism of human leukocyte antigen-E gene in the Japanese population with or without recurrent abortion. Am J Reprod Immunol. 2001;45:168-73 pubmed
    ..In light of no specific distribution pattern in recurrent aborters, HLA-E polymorphism does not seem to play a role in the pathogenesis of recurrent abortion. ..
  41. Nakanishi H, Kanzaki A, Yawata A, Yamada O, Yawata Y. Ankyrin gene mutations in japanese patients with hereditary spherocytosis. Int J Hematol. 2001;73:54-63 pubmed
    ..There was no difference between the Japanese and Western populations in the allele frequency of these gene polymorphisms in healthy subjects or HS patients. ..
  42. Noguchi E, Yokouchi Y, Shibasaki M, Inudou M, Nakahara S, Nogami T, et al. Association between TNFA polymorphism and the development of asthma in the Japanese population. Am J Respir Crit Care Med. 2002;166:43-6 pubmed
    ..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. ..
  43. Shimizu T, Onuma T, Kawamori R, Makita Y, Tomino Y. Endothelial nitric oxide synthase gene and the development of diabetic nephropathy. Diabetes Res Clin Pract. 2002;58:179-85 pubmed
    ..88). We conclude that there is no association of the ecNOS gene polymorphism with the development of diabetic nephropathy in Japanese patients with type 2 diabetes. ..
  44. Yoshida S, Harada H, Nagai H, Fukino K, Teramoto A, Emi M. Head-to-head juxtaposition of Fas-associated phosphatase-1 (FAP-1) and c-Jun NH2-terminal kinase 3 (JNK3) genes: genomic structure and seven polymorphisms of the FAP-1 gene. J Hum Genet. 2002;47:614-9 pubmed
    ..Seven polymorphisms were identified within functional domains or the putative promoter region, including two with amino acid substitutions, Leu1419Pro and Ile1522Met. ..
  45. Kumagai K, Hiyama K, Oyama T, Maeda H, Kohno N. Polymorphisms in the thymidylate synthase and methylenetetrahydrofolate reductase genes and sensitivity to the low-dose methotrexate therapy in patients with rheumatoid arthritis. Int J Mol Med. 2003;11:593-600 pubmed
    ..Our results suggest that the genotyping for the TYMS polymorphisms may become a useful indicator in determining the appropriate dose of MTX in patients with RA. ..
  46. Itai A, Kotaki T, Tanabe K, Tamura F, Kawaguchi D, Fukuda M. Rapid identification of 1-aminocyclopropane-1-carboxylate (ACC) synthase genotypes in cultivars of Japanese pear (Pyrus pyrifolia Nakai) using CAPS markers. Theor Appl Genet. 2003;106:1266-72 pubmed
    ..8 +/- 3.6%. This information is critical to the selection of parents and in breeding strategies to improve storage ability of Japanese pears...
  47. Doi K, Noiri E, Nakao A, Fujita T, Kobayashi S, Tokunaga K. Functional polymorphisms in the vascular endothelial growth factor gene are associated with development of end-stage renal disease in males. J Am Soc Nephrol. 2006;17:823-30 pubmed
    ..The 936CC-1451CC genotype in the 3' UTR showed not only susceptibility for ESRD but also higher plasma VEGF levels and mRNA stability, indicating the contribution of VEGF to chronic kidney disease progression, especially in males. ..
  48. Honda M, Ogura Y, Toyoda W, Taguchi M, Nozawa T, Inoue H, et al. Multiple regression analysis of pharmacogenetic variability of carvedilol disposition in 54 healthy Japanese volunteers. Biol Pharm Bull. 2006;29:772-8 pubmed
    ..On the other hand, CYP2C9*3, CYP2C19*2, CYP2C19*3, CYP3A5*3, UGT2B7*2, and MDR1 C3435T did not significantly affect the pharmacokinetics of carvedilol in Japanese subjects. ..
  49. Osada N, Hashimoto K, Kameoka Y, Hirata M, Tanuma R, Uno Y, et al. Large-scale analysis of Macaca fascicularis transcripts and inference of genetic divergence between M. fascicularis and M. mulatta. BMC Genomics. 2008;9:90 pubmed publisher
    ..Increasing the genomic resources and information of macaque monkeys will greatly contribute to the development of evolutionary biology and biomedical sciences. ..
  50. Matsuzawa D, Hashimoto K, Hashimoto T, Shimizu E, Watanabe H, Fujita Y, et al. Association study between the genetic polymorphisms of glutathione-related enzymes and schizophrenia in a Japanese population. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:86-94 pubmed publisher
  51. Arisawa T, Tahara T, Shibata T, Nagasaka M, Nakamura M, Kamiya Y, et al. Nrf2 gene promoter polymorphism is associated with ulcerative colitis in a Japanese population. Hepatogastroenterology. 2008;55:394-7 pubmed
    ..57, 95% CI:1.01-6.60, p = 0.043). On the other hand, no association between -650 genotype and ulcerative colitis was found. The -686*-684 genotype of Nrf2 gene may be associated with the development of ulcerative colitis. ..
  52. Takano M, Kato M, Yoshikawa T, Sasaki N, Hirata J, Furuya K, et al. Clinical significance of UDP-glucuronosyltransferase 1A1*6 for toxicities of combination chemotherapy with irinotecan and cisplatin in gynecologic cancers: a prospective multi-institutional study. Oncology. 2009;76:315-21 pubmed publisher
    ..In patients with *28 or *28*6, side effects were similar to those in patients with *6. In addition to UGT1A1*28, UGT1A1*6 might also be a key candidate to determine the dose of combination chemotherapy with irinotecan and cisplatin. ..
  53. Mori M, Higuchi K, Sakurai A, Tabara Y, Miki T, Nose H. Genetic basis of inter-individual variability in the effects of exercise on the alleviation of lifestyle-related diseases. J Physiol. 2009;587:5577-84 pubmed publisher
    ..A better understanding of these issues should lead to more effective integration of exercise to optimize the treatment and management of individuals with lifestyle-related diseases. ..
  54. Masuda K, Mori H, Ohara O, Nakayama M, Wang J, Burrows P. Defining the immunological phenotype of Fc receptor-like B (FCRLB) deficient mice: Confounding role of the inhibitory Fc?RIIb. Cell Immunol. 2010;266:24-31 pubmed publisher
    ..Thus, we speculate that the enhanced antibody response seen in the FCRLB-deficient mice may be due to the Fcgr2b promoter. ..
  55. Sasaki Y, Ohsako S, Deguchi T. Molecular and genetic analyses of arylamine N-acetyltransferase polymorphism of rabbit liver. J Biol Chem. 1991;266:13243-50 pubmed
    ..and Deguchi, T. (1990) J. Biol. Chem. 265, 4630-4634; Deguchi, T., Mashimo, M., and Suzuki, T. (1990) J. Biol. Chem. 265, 12757-12760). ..
  56. Miyahara K, Kawamoto T, Sase K, Yui Y, Toda K, Yang L, et al. Cloning and structural characterization of the human endothelial nitric-oxide-synthase gene. Eur J Biochem. 1994;223:719-26 pubmed
    ..These repeat sequences will probably provide genetic markers for gene mapping and linkage analysis of inherited diseases including cardiovascular diseases. ..
  57. Yamagishi A, Tomatsu S, Fukuda S, Uchiyama A, Shimozawa N, Suzuki Y, et al. Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. Hum Mutat. 1996;7:23-9 pubmed
    ..These data continue to document the molecular heterogeneity and racial differences in mutations in MPS-I. ..
  58. Ohagi S, Sakaguchi H, Sanke T, Tatsuta H, Hanabusa T, Nanjo K. Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM. Diabetes. 1996;45:897-901 pubmed
    ..These data suggest that genetic variation in the PC3 gene is unlikely to be a major contributor to NIDDM susceptibility in Japanese. ..
  59. Watanabe I, Tsukamoto K, Shiba T, Emi M. Isolation and radiation hybrid mapping of dinucleotide repeat polymorphism at the human matrix Gla protein (MGP) locus. J Hum Genet. 1998;43:75-6 pubmed
    ..We isolated a polymorphic dinucleotide CA repeat marker from a genomic clone containing the human MGP gene. This polymorphism will be useful in genetic studies of arteriosclerosis and osteoporosis. ..
  60. Nakamura I, Okawa A, Ikegawa S, Takaoka K, Nakamura Y. Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP). J Hum Genet. 1999;44:203-5 pubmed
    ..We also report six single nucleotide variations in this gene; five of them cause amino acid changes and the most common of them substitutes isoleucine for threonine at codon 395. ..
  61. Takagi Y, Futamura M, Yamaguchi K, Aoki S, Takahashi T, Saji S. Alterations of the PPP2R1B gene located at 11q23 in human colorectal cancers. Gut. 2000;47:268-71 pubmed
    ..Our results suggest that the PPP2R1B gene is one of the true targets at 11q23, and its inactivation is involved in the development of all types of colorectal cancers. ..
  62. Naoe T, Takeyama K, Yokozawa T, Kiyoi H, Seto M, Uike N, et al. Analysis of genetic polymorphism in NQO1, GST-M1, GST-T1, and CYP3A4 in 469 Japanese patients with therapy-related leukemia/ myelodysplastic syndrome and de novo acute myeloid leukemia. Clin Cancer Res. 2000;6:4091-5 pubmed
    ..The polymorphism of the 5' promoter region of CYP3A4 was not found in persons of Japanese ethnicity. These results suggest that the NQOJ polymorphism is significantly associated with the genetic risk of TRLIMDS. ..
  63. Arimura T, Nakamura T, Hiroi S, Satoh M, Takahashi M, Ohbuchi N, et al. Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy. Hum Genet. 2000;107:440-51 pubmed
    ..92-20.29), while this association was not found in familial IDC patients (n=24). These observations suggest that the nebulette polymorphism in the actin-binding motif was a novel genetic marker of susceptibility to nonfamilial IDC. ..
  64. Nishio Y, Noguchi E, Ito S, Ichikawa E, Umebayashi Y, Otsuka F, et al. Mutation and association analysis of the interferon regulatory factor 2 gene (IRF2) with atopic dermatitis. J Hum Genet. 2001;46:664-7 pubmed
    ..02 and P = 0.007, respectively). Our data suggest that IRF-2 plays some role in the development of AD in the Japanese population. ..
  65. Yang Q, Nakamura M, Nakamura Y, Yoshimura G, Suzuma T, Umemura T, et al. Correlation of prostate-specific antigen promoter polymorphisms with clinicopathological characteristics in breast cancer. Anticancer Res. 2002;22:1825-8 pubmed
    ..Our results suggest that the presence of the A-AA allele at the PSA promoter region is associated with less aggressive forms of breast cancer and could be looked on as a favorable prognostic factor. ..
  66. Suzuki N, Matsunaga T, Nagasumi K, Yamamura T, Shihara N, Moritani T, et al. Alpha(2B)-adrenergic receptor deletion polymorphism associates with autonomic nervous system activity in young healthy Japanese. J Clin Endocrinol Metab. 2003;88:1184-7 pubmed
    ..These findings suggest that the alpha(2B)AR deletion polymorphism might result in metabolic disorder by altering ANS function. ..
  67. Ohashi J, Naka I, Patarapotikul J, Hananantachai H, Looareesuwan S, Tokunaga K. Lack of association between interleukin-10 gene promoter polymorphism, -1082G/A, and severe malaria in Thailand. Southeast Asian J Trop Med Public Health. 2002;33 Suppl 3:5-7 pubmed
    ..6%, 92.1%, and 92.7% respectively. Our results showed no significant association of the -1082G/A polymorphism with the severity of malaria. ..
  68. Xu D, Ban T. Phylogenetic and evolutionary relationships between Elymus humidus and other Elymus species based on sequencing of non-coding regions of cpDNA and AFLP of nuclear DNA. Theor Appl Genet. 2004;108:1443-8 pubmed
    ..Our results suggest that the evolutionary process between E. humidus and E. tsukushiensis is not monophyletic, although the two species have similar morphological characters and adaptability...
  69. Takanami T, Nakamura J, Kubota Y, Horiuchi S. The Arg280His polymorphism in X-ray repair cross-complementing gene 1 impairs DNA repair ability. Mutat Res. 2005;582:135-45 pubmed
    ..These results suggest that the XRCC1(R280H) variant protein is defective in its efficient localization to a damaged site in the chromosome, thereby reducing the cellular BER/SSBR efficiency. ..
  70. Atsuta Y, Kawase H, Hamajima N, Nishio K, Niwa Y, Tanaka D, et al. Use of duplex PCR-CTPP methods for CYP2E1RsaI/IL-2 T-330G and IL-1B C-31T/TNF-A T-1031C polymorphisms. Mol Diagn. 2005;9:89-94 pubmed
    ..Both duplex PCR-CTPP methods may be useful tools for studies on the association between these polymorphisms and disease risk. ..
  71. Iemitsu M, Maeda S, Otsuki T, Sugawara J, Tanabe T, Jesmin S, et al. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. Hypertension. 2006;47:928-36 pubmed
    ..The present results suggest that differences in ET-A and ET-B polymorphisms may influence the response of the vascular wall to exercise whereas ECE-1 polymorphisms may affect basal blood pressure. ..
  72. Suzuki A, Nakamura K, Sekine Y, Minabe Y, Takei N, Suzuki K, et al. An association study between catechol-O-methyl transferase gene polymorphism and methamphetamine psychotic disorder. Psychiatr Genet. 2006;16:133-8 pubmed
  73. Nishii N, Takasu M, Soe O, Maeda S, Ohba Y, Inoue Murayama M, et al. Cloning, expression and investigation for polymorphisms of canine peroxisome proliferator-activated receptors. Comp Biochem Physiol B Biochem Mol Biol. 2007;147:690-7 pubmed
    ..These results suggest that PPARgamma may play an important role in adipocyte differentiation in dogs. Investigations for polymorphisms of PPARgamma revealed a silent polymorphism, C1362T, in 3 of 92 dogs. ..
  74. Usami S, Kishimoto I, Saito Y, Harada M, Kuwahara K, Nakagawa Y, et al. Association of CT dinucleotide repeat polymorphism in the 5'-flanking region of the guanylyl cyclase (GC)-A gene with essential hypertension in the Japanese. Hypertens Res. 2008;31:89-96 pubmed publisher
    ..Our results thus define the (CT)n polymorphism in the 5'-flanking region of the GC-A gene as a potent and novel susceptibility marker for hypertension. ..
  75. Yamazaki K, Yamazaki T, Masumoto J, Suzuki A, Yazaki M, Agematsu K. [Familial Mediterranean fever as representative autoinflammatory disease]. Rinsho Byori. 2009;57:371-81 pubmed
    ..In conclusion, FMF is not a rare disease in Japan, and it is necessary to consider FMF when a patient experiences recurrent attacks of fever and serositis. ..
  76. Tomita M, Katsuyama H, Okuyama T, Watanabe Y, Hidaka K, Otsuki T, et al. The effect of CAG repeat polymorphism in the glucocorticoid receptor on stress responses of mice exposed to water-immersion restraint stress. Int J Mol Med. 2010;25:415-20 pubmed
    ..The present study provides insights into the role of GR in individual responses to stress. ..
  77. Okamoto N, Nakatani T, Okamoto Y, Iwamoto J, Saeki K, Kurumatani N. Increasing the number of steps walked each day improves physical fitness in Japanese community-dwelling adults. Int J Sports Med. 2010;31:277-82 pubmed publisher
    ..Our results suggest that increasing the number of steps walked daily improves physical fitness. No significant relationships were observed between the change in physical fitness and ACE genotypes. ..
  78. Onodera O, Oyake M, Takano H, Ikeuchi T, Igarashi S, Tsuji S. Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. Am J Hum Genet. 1995;57:1050-60 pubmed
    ..Furthermore, mRNA from cerebellar hemispheres of DRPLA patients showed smaller sizes of CAG repeats compared with other regions of the brain, which reflects somatic mosaicism of the expanded alleles of the DRPLA gene. ..
  79. Suchi M, Sano H, Mizuno H, Wada Y. Molecular cloning and structural characterization of the human histidase gene (HAL). Genomics. 1995;29:98-104 pubmed
    ..The human histidase genomic structure presented here should facilitate the molecular investigation of symptomatic and asymptomatic forms of histidinemia. ..
  80. Shimomura Y, Aoki N, Schweizer J, Langbein L, Rogers M, Winter H, et al. Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family. J Biol Chem. 2002;277:45493-501 pubmed
    ..In addition, by means of a pan-hKAP1 antibody, we confirm the previous hKAP1 family mRNA localization data in the middle to upper cortex of the human anagen hair follicle. ..
  81. Yamada M, Sodeyama N, Itoh Y, Suematsu N, Otomo E, Matsushita M, et al. Association of presenilin-1 polymorphism with cerebral amyloid angiopathy in the elderly. Stroke. 1997;28:2219-21 pubmed
    ..A significant decrease of PS-1 2/2 genotype frequency was associated with severe or moderate CAA. Our results suggest that PS-1 intronic polymorphism may be associated with the severity of CAA in the elderly. ..
  82. Suzuki T, Matsuo K, Sawaki A, Wakai K, Hirose K, Ito H, et al. Influence of smoking and CYP2C19 genotypes on H. pylori eradication success. Epidemiol Infect. 2007;135:171-6 pubmed
    ..7%, PM 20.0%), indicating possible interactions with CYP2C19 polymorphisms. Smoking has a greater influence on H. pylori eradication than the CYP2C19 genotype. Interaction between smoking and CYP2C19 should be examined in the future. ..
  83. Maeda S, Ishidou Y, Koga H, Taketomi E, Ikari K, Komiya S, et al. Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res. 2001;16:948-57 pubmed
  84. Tokino T, Urano T, Furuhata T, Matsushima M, Miyatsu T, Sasaki S, et al. Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis. Hum Genet. 1996;97:625-31 pubmed
    ..5'-CCGGCC-3', are tandemly repeated. ..
  85. Tamaki S, Iwai N, Tsujita Y, Kinoshita M. Genetic polymorphism of CYP11B2 gene and hypertension in Japanese. Hypertension. 1999;33:266-70 pubmed
    ..The present study suggests that the (-344)C allele of the CYP11B2 gene may be a genetic marker for low-renin hypertension in Japanese. ..
  86. Sato N, Katsuya T, Nakagawa T, Ishikawa K, Fu Y, Asai T, et al. Nine polymorphisms of angiotensinogen gene in the susceptibility to essential hypertension. Life Sci. 2000;68:259-72 pubmed
    ..Our results suggest that the positive association between AGT polymorphism and hypertension is not simply explained by an increase of plasma AGT concentration. ..
  87. Tanimoto S, Tamura H, Ue T, Yamane K, Maruyama H, Kawakami H, et al. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population. Neurosci Lett. 2007;414:71-4 pubmed
    ..20 (95% CI: 2.87-13.40) conferred by homozygosity for risk alleles at LOC387715 compared with the non-risk genotype. A polymorphism of LOC387715 gene is associated with AMD in the Japanese population. ..
  88. Ding M, Umetsu K, Yuasa I, Sato M, Harada A, Suzuki T. Molecular basis of inter-alpha-trypsin inhibitor heavy chain H1 (ITIH1) polymorphism. Hum Genet. 1995;95:435-6 pubmed
    ..ITIH1*1 was characterized by GAG (Glu) at codon 551 and CAG (Gln) at codon 561, ITIH1*2, by GTG (Val) and CGG (Arg), and ITIH1*3, by GAG (Glu) and CGG (Arg). ..
  89. Kamiya M, Harada A, Mizuno M, Iwata H, Yamada Y. Association between a polymorphism of the transforming growth factor-beta1 gene and genetic susceptibility to ossification of the posterior longitudinal ligament in Japanese patients. Spine (Phila Pa 1976). 2001;26:1264-6; discussion 1266-7 pubmed
    ..Therefore, TGF-beta1 genotyping may be useful in the prevention of OPLL. ..
  90. Hegab A, Sakamoto T, Saitoh W, Nomura A, Ishii Y, Morishima Y, et al. Polymorphisms of TNFalpha, IL1beta, and IL1RN genes in chronic obstructive pulmonary disease. Biochem Biophys Res Commun. 2005;329:1246-52 pubmed
    ..0037). Our findings suggest that this haplotype within the IL1beta gene may be involved in the pathogenesis of COPD and that the genetic factors of COPD susceptibility might be different between different populations. ..
  91. Ishiguro H, Ohtsuki T, Okubo Y, Kurumaji A, Arinami T. Association analysis of the pituitary adenyl cyclase activating peptide gene (PACAP) on chromosome 18p11 with schizophrenia and bipolar disorders. J Neural Transm (Vienna). 2001;108:849-54 pubmed
    ..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. ..
  92. Sakai K, Takada T, Nakayama H, Kubota Y, Nakamata M, Satoh M, et al. Serotonin-2A and 2C receptor gene polymorphisms in Japanese patients with obstructive sleep apnea. Intern Med. 2005;44:928-33 pubmed
    ..These results indicate that age and BMI, not these polymorphisms, are associated with OSA in this population. ..