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Norio Takahashi

Publications and source records attributed to Norio Takahashi.

8 recordsLinked to original sources

An intronic variable number of tandem repeat polymorphisms of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene modifies gene expression and is associated with essential hypertension.

Cold-induced autoinflammatory syndrome 1 (CIAS1) gene is a member of the NALP subfamily of the CATERPILLER protein family that is expressed predominantly in peripheral blood leukocytes, which is to regulate apoptosis or inflammation through the activation of NF-kappaB and caspase. Recent genetic analyses suggested an association between inflammation and oxidative stress-related genes in the development of hypertension. This is the first genetic study indicating an association between the CIAS1 gene and susceptibility to essential hypertension (EH). The frequency of subject with the homozygote of 12 repeat allele was significantly higher in patients with hypertension compared with control subjects (987 cases, 924 controls) (P=0.030; odds ratio=1.24) at a novel VNTR polymorphism of CIAS1 intron 4 loci. We also found that the mean of systolic blood pressure of homozygotes of 12 repeat allele was 6.4 mmHg higher than those of homozygotes of non-12 repeat allele in male random population (P=0.009). The frequency of six SNPs spanning of the CIAS1 gene was not significantly between patients and controls. The real-time PCR analysis showed that among healthy young adults, 12-12 subjects expressed CIAS1 mRNA in peripheral leukocytes significantly more abundantly than homozygote of non-12 repeat alleles subjects (P<0.05). Reporter gene assay of the CIAS1-VNTR in HL60 stimulated by lipopolysaccharides showed that the intronic sequence involving 12 repeat increased the expression of luciferase compared with 9, 7, and 6 repeats. Thus, we propose here the CIAS1 is associated with EH through the dominant expression of transcripts, which may depend on the CIAS1-VNTR genotype.

Alleles↗

Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension.

Inactivating mutations in the follicle-stimulating hormone receptor (FSHR) gene have been reported to cause hereditary hypergonadotropic ovarian failure. It has been found recently that the FSHR knockout mouse exhibits hypertension. The aim of the present study was to investigate the association between polymorphisms in the human FSHR gene and essential hypertension (EH) by using single nucleotide polymorphisms (SNPs). We selected 5 SNPs in the gene (rs1394205, rs2055571, rs11692782, rs1007541, and rs2268361) and performed 2 genetic case-control studies in different populations. A confirmative case-control study was performed using 1035 EH patients and 1058 age-matched controls. Transcriptional activities were measured with a luciferase assay system. The first case-control study found that the A allele of rs1394205 was significantly higher in EH females (P=0.010). In addition, in the confirmative case-control study, there was a significant difference for this SNP between female normotensive subjects (44.5%) and EH patients (50.7%) (P=0.043). Multiple logistic regression analysis in female subjects also revealed a significant association of subjects with the A allele of rs1394205 with EH (P=0.033), with the odds ratio calculated as 1.68 (95% CI: 1.04 to 2.73). Transcriptional activity of the A allele was 56+/-8% (mean+/-SD) of that observed for the G-type allele (P=0.001). Serum estradiol levels were significantly lower in patients with the A/A genotype than in patients without the A/A genotype (P=0.004). The SNP in the 5'-untranslated region of the FSHR gene affects levels of transcriptional activity and is a susceptibility mutation of EH in women.

5' Untranslated Regions↗

LTA 252G allele containing haplotype block is associated with high serum C-reactive protein levels.

C-reactive protein (CRP), an inflammatory biomarker, is a predictor of future risk for cardiovascular disease. Hypothetically, the levels of inflammatory response to microbial and lifestyle-related factors are influenced by genetic factors. LT-alpha is a proinflammatory cytokine that plays an important role in the pathogenesis of atherosclerosis in mice. We examined the association between gene polymorphism of the LT-alpha coding gene, LTA A252G, and CRP based on a case-control study. The top 149 and bottom 151 subjects in terms of CRP levels were selected for genotyping from among 1000 A-bomb survivors free from acute infection, chronic liver diseases, uremia, autoimmune diseases, and cancers. The genotype of LTA was determined by fluorescence resonance energy transfer-polymerase chain reaction (FRET-PCR) and subsequent melting curve analysis. The values of traditional risk factors such as body mass index (BMI), white blood cell (WBC) count, hemoglobin (Hb) concentration, and glycated Hb (HbA1c) differed significantly between the low and high CRP groups. After adjusting for the effect of sex, age, BMI, WBC, Hb, and HbA1c, the LTA 252G allele was found to be associated with high CRP levels (odds ratio = 1.93, P = 0.007) by multiple logistic regression analysis. Thus, CRP levels are influenced not only by environmental factors but also by the polymorphism of LTA or other genes in the same haplotype block.

Alleles↗

No evidence of radiation effect on mutation rates at hypervariable minisatellite loci in the germ cells of atomic bomb survivors.

Human minisatellites consist of tandem arrays of short repeat sequences, and some are highly polymorphic in numbers of repeats among individuals. Since these loci mutate much more frequently than coding sequences, they make attractive markers for screening populations for genetic effects of mutagenic agents. Here we report the results of our analysis of mutations at eight hypervariable minisatellite loci in the offspring (61 from exposed families in 60 of which only one parent was exposed, and 58 from unexposed parents) of atomic bomb survivors with mean doses of >1 Sv. We found 44 mutations in paternal alleles and eight mutations in maternal alleles with no indication that the high doses of acutely applied radiation had caused significant genetic effects. Our finding contrasts with those of some other studies in which much lower radiation doses, applied chronically, caused significantly increased mutation rates. Possible reasons for this discrepancy are discussed.

Adolescent↗

Reversible defect of 123I-15-(p-iodophenyl)-9-(R,S)-methylpentadecanoic acid indicates residual viability within infarct-related area.

To evaluate the relationship between the reversible defect of 123I-15-(p-iodophenyl)-9-(R,S)-methylpentadecanoic acid (9MPA) and residual viability within an infarct-related area, we performed resting single photon emission computed tomography (SPECT) with 9MPA and positron emission tomography (PET) with 18F-deoxyglucose (FDG) and 13N-ammonia (NH3) in 7 patients with prior myocardial infarction. 9MPA-SPECT was obtained 2 min (early) and 50 min (delayed) after tracer injection. Tomographic images of the left ventricle were divided into 13 segments to correlate the regional uptake of each tracer. Residual viability within an infarct-related segment was confirmed by NH3- and FDG-PET. Twenty-six infarct-related segments, confirmed by NH3-PET, showed reduced uptake of 9MPA on early images. In these 26 segments, 6 showed reversible defect of 9MPA and 20 showed fixed defect on delayed images. Residual viability was present in all segments exhibiting reversible 9MPA defect and 7 segments (35%) exhibiting fixed defect (p < 0.05). The sensitivity, specificity and accuracy of reversible 9MPA defect for the detection of myocardial viability were 46%, 100%, and 73%, respectively. Myocardial clearance of 9MPA was significantly slower in non-viable segments than in ischemic but viable segments (4.9+/-5.1% vs. 10.1+/-5.3%; p < 0.05). These data suggest that a reversible 9MPA defect indicates residual viability within the infarct-related area.

Aged↗

[Retroperitoneal bronchogenic cyst: a case report].

A rare case of retroperitoneal bronchogenic cyst is presented. A 50-year-old man was referred to our hospital for an investigation of a retroperitoneal mass. Computed tomography and magnetic resonance imaging confirmed a retroperitoneal mass, about 4 cm in diameter, adjacent to the left kidney and spleen. On the basis of these imaging modalities, a definitive diagnosis of this mass could not be made. So, resection of the mass was performed. The removed mass was an unilocular cyst and filled with mucinous fluid. Histopathologically, the cyst wall was composed of a fibrovascular connective tissue containing mucus-secreting glands and cartilages and was lined by ciliated pseudostratified columnar epitherium. Thus, a diagnosis of bronchogenic cyst was made. Bronchogenic cysts are rare congenital anomalies of the primitive foregut and usually develop in the mediastinum and lung.

Bronchogenic Cyst↗

A case of solid variant type of pancreatic serous cystadenoma mimicking islet cell tumor.

We report a case of the solid variant type of pancreatic serous cystadenoma in which the very small size of the cyst on ultrasonography and computed tomography made distinguishing this tumor from other hypervascular solid tumors difficult. Recognizing the imaging features of high signal intensity on heavily T2-weighted image on MR may be helpful for correctly diagnosing the solid variant type of pancreatic serous cystadenoma.

Adenoma, Islet Cell↗