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HLA-D antigens in the Japanese population.

A Japanese population was typed for HLA-D antigens for the first time using HLA-D homozygous typing cells Dw1 through Dw4 and the homozygous cells LD HO and LD AH, newly found in the Japanese population. Dw3 was absent from the Japanese population which also lacks B8. Dw1, Dw2 and Dw4 were found in this population, but these did not show significant linkage disequilibria with any alleles of the B or C loci. LD HO and LD AH were common in Japanese but absent in Caucasians. LD HO was found to be in strong linkage disequilibrium with Bw35. LD AH showed significant association with Bw22J.

Epitopes

An HLA-D specificity found in the Japanese population.

A new HLA-D specificity was found in the Japanese population in two different laboratories. Japanese cell YT, found at Stanford, California, was A9,BW22J,CW1 and cell Wa, found at Sapporo, Japan, was A9,BW22J homozygous. They were shown to be HLA-D identical to the homozygous Japanese cell AH which submitted to the VIth International Histocompatibility Testing Workshop (Workshop number 2-001). This specificity was common in the Japanese (gf = 0.089) but completely absent from 62 Caucasians tested. Strong association of this specificity with HLA-BW22J was demonstrated.

California

Frequencies of salivary genetic marker systems in the Japanese population and their application to forensic medicine.

Seven salivary polymorphic systems were studied using whole and parotid saliva from random Japanese individuals. The gene frequencies obtained were: Pa+ = 0.212, Pb1 = 1.000, Pb2 = 0, Pr1 = 0.763, Pr2 = 0.237, Db+ = 0.051, Pm+ = 0.409, Ph+ = 0.026 and Amy1v = 0.013, respectively. Based on these gene frequencies, the chances for exclusion of falsely alleged fathers were calculated. The chance of exclusion on the basis of five salivary polymorphic systems was 0.305. The combined chance of exclusion utilizing only blood, serum and red-cell enzyme polymorphic systems among the Japanese population was 0.919; however, by applying salivary polymorphic systems to the calculation, the total exclusion rose to 0.944.

Black People

Genetic heterogeneity within an electrophoretic phenotype of phosphoglucose isomerase in a Japanese population.

The thermostability of the five kinds of electrophoretically variant phenotypes of GPI which were found in Japanese in a previous study (Tanis et al. 1977) was examined. The most frequently found variant phenotype, termed GPI 1-4HIR1, observed in 20 individuals could be divided into three distinct classes on the basis of thermostability characteristics. These classes were termed 'stable', 'labile', and 'very labile'. 'Stable' lost approximately 20 and 60% of its original activity after heating 10 and 30 min at 52-5 degrees C, respectively, while normal GPI lost approximately 30 and 70% of its original activity. 'Labile' lost approximately 40 and 80%, and 'very labile' lost approximately 55 and 90% of its original activity under the same heating conditions. Electrophoresis showed that that thermostability was a characteristic of the variant protein molecule but not of the electrophoretically normal molecule. The order of the stability of these three kinds of variants against 5 M urea was the same as that of their thermostability. No difference against inhibition by 6-phosphogluconate was observed among the normal and the variant phosphoglucose isomerases. Family studies confirmed the genetic nature of the thermo- and urea stability differences among the affected individuals.

Electrophoresis, Starch Gel

[Prevalence of osteoarthrosis of the hip and other joints in Japanese population (author's transl)].

A population study on osteoarthrosis (OA) was made in Iwata district of Kamitonda Wakayama. In the present survey, 1335 inhabitants aged 30 years and over were surveyed from August 1972 to May 1974. The completion rate was 69.1%. The examinations consisted of measurements of blood pressure, body height and weight, blood and urine test and radiographs of hand, cervical spine and pelvis. Osteoarthrotic changes of wrist and finger joint, cervical spine and hip joint were detected and assessed according to Kellgren and Lawrence's criteria by two observers respectively. The results obtained were as follows. 1) The prevalence of OA of the hip joint in this population sample of 737 persons was 0.94%. 2) Primary OA of hip joint was found in 0.27% of the same sample. 3) Compared with Caucasians, the incidence of OA of hip joint was low and similar to that of the Chinese in Hong Kong. 5) The incidnece of radiological osteoarthrosis of wrist, finger joints and cervical spine was comparable in the British studied by Kellgren and Lawrence. 6) The incidence of OA of the first carpometacarpal joint was very low in Japanese regardless the sex.

Adult

Determination of phenotypes of esterases (Set) in fresh saliva and saliva stains by disc electrophoresis and the distribution of Set phenotypes in the Japanese population.

A rapid and simple disc electrophoretic technique for the determination of saliva esterase (Set) types is described. The frequency of Set types was F 16.4%, FS 49.8% and S 33.8%. The estimated gene frequency of Set-1F was 0.413 and of Set-1S was 0.587. An accurate determination of Set types was possible in 5--7 week-old saliva stains. This system may be useful in medicolegal applications.

Electrophoresis, Disc

JG2: an updated version of the Japanese population-specific reference genome.

Here we present the construction of JG2, an updated population-specific reference genome for the Japanese population. Utilizing data from three individuals previously used in the construction of JG1, several methodologies were employed to enhance genomic coverage and assembly quality. Hi-C sequencing technology facilitated phase-aware assembly, generating two haploid assemblies per individual and enabling improved representation of genetic variation. A meta-assembly strategy and a majority decision approach further refined assembly quality by combining the best sequences from multiple assemblies and minimizing the inclusion of rare variants. The resulting JG2 genome comprises chromosome-level sequences, mitochondrial chromosomes and unplaced scaffolds, offering more comprehensive coverage of the Japanese genome. Comparative analyses with other reference genomes demonstrated the accuracy and representativeness of JG2, highlighting its utility for genetic research involving the Japanese population. Overall, by adopting the phased assembly technique, JG2 represents a substantial advancement over the collapsed assembly-based JG1, with improvements including a greater number of identified variants (3,115,695 variants, of which 298,644 had an allele frequency (AF) of 1.0 in the 3.5KJPNv2 AF panel) and a higher N50 value (152,668,378 bp). These enhancements provide researchers with a more precise and comprehensive resource for understanding the genetic landscape of the Japanese population. The sequences and annotations are available on the jMorp website ( https://jmorp.megabank.tohoku.ac.jp/ ).

Journal Article

Enzyme and chromosome polymorphisms in Japanese natural populations of Drosophila melanogaster.

Collections of D. melanogaster from Japanese populations were analyzed for enzyme and chromosomal polymorphisms. Allelic frequencies at the Adh and alphaGpd loci were compared with polymorphic inversion (In(2L)B, In(2R)C) frequencies in the second chromosome. There was a significant positive correlation between the frequencies of AdhS and In(2L)B, caused by linkage. On the other hand, inversion-free cage populations maintained in the laboratory for a long time showed considerably larger variation in the frequencies of these enzyme alleles, which seem very likely to be a consequence of random drift. Two fitness components of these enzyme and chromosomal variants were measured in two different environmental conditions; neither of the two loci showed heterozygote superiority in viability or productivity, while the inversion heterozygotes showed a superior productivity compared to the corresponding homozygotes in the fluctuating environment. These findings are compatible with the hypothesis that polymorphic isozyme genes are maintained by random drift of neutral genes in natural populations, and that association with linked inversions is a historical accident.

Alcohol Oxidoreductases

Polygenic risk scores and lifestyle factors predicting new onset of type 2 diabetes in the Japanese general population.

PURPOSE: This study investigated the association of polygenic risk scores (PRS) and lifestyle factors with type 2 diabetes mellitus development in Japanese populations and evaluated whether PRS can improve diabetes risk prediction beyond traditional risk factors. METHODS: We conducted a cross-sectional and a longitudinal study using the Shika resident cohort (n = 895) and the Toshiba worker cohort (n = 7019), respectively. Participants were categorized into low, intermediate, and high genetic risk groups using PRS constructed with genome-wide association study data from East Asian populations. We defined diabetes based on hemoglobin A1c, fasting blood glucose, self-reported diagnosis, or medication use. The associations of PRS and lifestyle factors with diabetes development were analyzed using multivariate logistic regression and Cox proportional hazards models. RESULTS: Higher PRS were associated with increased diabetes risk in both cohorts (resident cohort: odds ratio 4.51, 95% CI 2.53-8.04; worker cohort: hazard ratio 1.50, 95% CI 1.23-1.83 for high vs low PRS), which remained consistent across age, body mass index, and comorbidities. Regular exercise, absence of hypertension, and absence of dyslipidemia were associated with lower diabetes risk, particularly in the high PRS group. The addition of PRS to conventional prediction models improved the discrimination of diabetes risk. MAIN CONCLUSION: PRS are associated with diabetes risk in Japanese general populations, independent of traditional risk factors. Nonetheless, healthy lifestyle habits may reduce diabetes risk even among genetically susceptible individuals, which support the utility of PRS for personalized diabetes risk assessment and prevention strategies.

Adult

A study on HL-A system in Japanese.

Two hundred unrelated Japanese individuals were HL-A typed with UCLA Research Tray T3 (Terasaki's Tray), which contains specificities added after the Fifth International Workshop. Phenotype, gene and haplotype frequencies were calculated with standard errors and delta values. HL-A9, HL-A5 and W10 had a higher frequency and HL-A1, 3 and 8 had a lower frequency in Japanese than in Caucasians. The frequent haplotypes were HL-A9-HL-A5, HL-A9-HL-A7 and HL-A2W10. HL-A9-HL-A5 showed very positive high linkage disequilibrium parameter (delta value) and HL-A9-W10 showed negative high value. The sera designated as anti-HL-A, W5 and W15 in the T3 Tray which react identically in Caucasians showed different patterns of reaction when tested in the Japanese population. Five hundred Japanese parous women's sera were tested for cytotoxic antibodies. Some Japanese antisera showed high correlation coefficient values on HL-A2, HL-A9, HL-A10, HL-A11 and HL-A12. The women providing the anti-HL-5 complex sera and their immunizing persons were HL-A typed. These complex sera reactions were compared with the antisera in the T3 Tray. A new group of sera (SN-1), "operationally monospecific" and cross-reacting with W22, was found in the present study. Population and family studies suggested that the sera SN-1 are third in frequency within the second series (phenotypic frequency 17-22%) and show high delta values with HL-A11 in the Japanese population.

Epitopes

Interspecies interactions of arboviruses. I. Competition phenomenon in mixed populations of Japanese encephalitis and West Nile viruses.

Two phenomena, competition and independent reproduction, were observed on co-cultivation of Japanese encephalitis (JE) and West Nile (WN) viruses in permissive systems. Competition occurred in populations propagated in mouse brains and led to elimination of JE virus. Only clones of WN virus were isolated from these populations at the 1st-3rd passage level. No competition was observed in mixed infection of primary Syrian hamster kidney (SHK) cell culturess the population had the combined immunological phenotype JE+WN+, and contained discrete JE and WN virus clones and clones with duplex antigenic markers. Upon subcloning, the latter dissociated into JE and WN viruses. The competition phenomenon depended upon 3 factors: co-cultivation system, peculiarities of the virus strains, and virus dose. The capacity of WN virus strains to eliminate JE virus in mixed infection of mice varied.

Animals

A variant protein in human parotid saliva detected by SDS polyacrylamide gel electrophoresis and its inheritance.

In 218 parotid saliva samples collected at random from a Japanese population, two phenotypes were observed by SDS polyacrylamide gel electrophoresis. Inheritance was controlled by a dominant allele at an autosomal locus. The frequencies of the genes determining these phenotypes were for the Japanese population studied: Ph+ = 0.026 +/- 0.008, Ph- = 0.974 +/- 0.008.

Electrophoresis, Polyacrylamide Gel

Isolation and characterization of influenza A viruses from wild ducks in northern Japan: appearance of HSW1 antigens in the Japanese duck population.

Twenty-six influenza A viruses were isolated from cloacal and tracheal samples of 235 resident and 396 migratory ducks in Miyagi prefecture, Japan, in 1977--78. Of these, twelve were antigenically related to the avian-origin HSW1 virus, A/duck/Alberta/35/76 (HSW1N1), but their neuraminidase antigens were characterized as Nav2-3, Nav4 or N2. These antigenic configuration have not previously been reported. In addition, one strain in which the neuraminidase antigen was identified as Nav4, was demonstrated to be a mixture of two haemagglutinins, HSW1 and Hav7. Two distinct strains were separated from the mixture and characterized as HSW1Nav4 and Hav7Nav4. The antigenic identification of an additional 13 influenza A viruses revealed the presence of six haemagglutinin subtypes (Hav1, Hav3, Hav4, Hav6, Hav7, and Hav8) and five neuaraminidase subtypes (Nav1, Nav2-3, Nav4, Neq2, and N2) in various combinations. The results suggest that the avian influenza A viruses among feral ducks may be isolated in various combinations of haemagglutinins and neuraminidase subtypes in Japan, and that feral ducks may be the site of genetic recombination occurring as a result of dual infection with different subtypes of influenza A virus.

Animals