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  • 1
    Electronic Resource
    Electronic Resource
    Increased expression of HLA-DR molecule on peripheral blood Th lymphocytes from patients with IgA nephropathy (1999)
    Springer
    Clinical and experimental nephrology 3 (1999), S. 186-191 
    Details
    ISSN: 1437-7799
    Keywords: Key words IgA nephropathy ; HLA-DR ; Activated Th cells ; Adhesion molecule
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background. IgA nephropathy is the commonest type of glomerulonephritis. Recent studies have shown a decrease in the expression of HLA class I antigens on peripheral blood mononuclear leukocytes (PBML) from patients with HLA class II-associated autoimmune diseases. In this study, the expression of HLA molecules on T cells from patients with IgA nephropathy was examined in order to investigate the immunological events contributing to the pathogenesis of this disorder. Methods. Thirty Japanese patients with IgA nephropathy were studied. Nine patients with membranous nephropathy and 21 sex- and age-matched healthy individuals were enrolled as controls. Heparinized PBML with or without stimulation by an anti-CD3 monoclonal antibody were analyzed in regard to the expression of HLA-class I, HLA-DR, CD4, CD8, CD11a, CD11b, and CD56, by two-color fluorescence flow cytometry. Results. The expressions of HLA-class I, HLA-DR, CD11a, CD11b, and CD56 on resting CD3-positive, CD4-positive, CD8-positive, or CD20-positive cells from patients with IgA nephropathy were found to be comparable with those from the controls. However, after stimulation by anti-CD3 antibody, the expression of HLA-DR on CD4-positive cells from these patients was significantly higher than that from the controls. Further, the expression of HLA-DR on CD4-positive cells from patients with proteinuria of more than 1 g/day was much higher than that in patients with proteinuria of less than 1 g/day. Conclusions. In this study, the expression of HLA-DR on stimulated Th cells from IgA nephropathy patients was shown to be significantly higher than the expression in the stimulated T cells from the controls. This finding suggests that Th cells may acquire antigen-presenting activity by HLA-DR expression, present antigens to other Th cells, promote B cells to produce antibodies, and, presumably, lead to the development of IgA nephropathy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101570050033
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  • 2
    Electronic Resource
    Electronic Resource
    Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 445-449 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary To assess the relationship between relatively severe hereditary hypercholesterolemia with Achilles tendon xanthomas and the defect of the low density lipoprotein (LDL) receptor gene, family studies were carried out in 17 hypercholesterolemic families. In 16 out of the 17 families, hypercholesterolemia co-segregated with four different gross rearrangements, six different restriction fragment length polymorphism (RFLP) haplotypes, or an abnormal TaqI band of the LDL receptor gene. These findings are compatible with the interpretation that hypercholesterolemia is caused by defective LDL receptor genes, and that the origin of the mutant LDL receptor genes in Japanese generally differs among different pedigrees. In the remaining family, the proband and his sibling, both having relatively severe hypercholesterolemia and Achilles tendon xanthomas, shared an RFLP haplotype, although the proband's other sibling with moderate hypercholesterolemia but without Achilles tendon xanthomas did not. The mutant gene for familial defective apolipoprotein B-100 was not detected in the 17 probands. These data suggest that most, if not all, of the relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas is caused by a defect of the LDL receptor gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194631
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  • 3
    Electronic Resource
    Electronic Resource
    No evidence for linkage between the loci for coagulation factor XIII-A and HLA (1986)
    Springer
    Human genetics 〈Berlin〉 72 (1986), S. 266-267 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The linkage analysis between the locus for coagulation factor XIII-A (F13A) and HLA region genes (HLA-A,-C,-B) was performed. In males, the maximum of lod scores between F13A and HLA was 0.33 at θ=0.30, and in females lod scores were negative at all values of θ. The results provided no evidence for close linkage between F13A and HLA genes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291893
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  • 4
    Electronic Resource
    Electronic Resource
    Haplotype study on C4 polymorphism in Japanese. Associations with MIHC Alleles, complotypes, and HLA-complement haplotypes (1985)
    Springer
    Immunogenetics 22 (1985), S. 359-365 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Genetic polymorphism of the fourth component of human complement (C4) was investigated in 83 Japanese families which have been typed for HLA-A, -B, -C, -DR, C2, and BF. Four common C4A alleles and four common C4B alleles were observed. The allele frequencies estimated from unrelated parents were as follows: C4A3, 0.686; A4, 0.132; A2, 0.106; AQ0, 0.067; ARares, 0.009; C4B1, 0.587; B2, 0.167; B5, 0.088; and BQ0, 0.158. Eight different C4 haplotypes were observed with frequencies of more than 0.01. The estimated haplotype frequencies were as follows: C4A3-B1, 0.513; A4-B2, 0.114; A2-BQ0, 0.106; A3-B5, 0.088; AQ0-B1, 0.059; A3-BQ0, 0.047; A3-B2,0.038; A4-B1, 0.015; and Rares, 0.021. Strong positive gametic associations were found in the following C4-HLA haplotypes: C4A2BQ0-A24, C4A2BQ0-Bw52, C4A3B5-Bw54, C4A3B5-Bw59, C4A4B2-Bw46, C4A3B5-Cw1, C4A2BQ0-DR2, and C4A3B5-DR4. Eleven complotypes were observed with frequencies of more than 0.01. C4A2BQ0 and C4A3B5 were exclusively associated with BFS-C2C. BFF was associated with C4A3B1, C2AT, C2B, and C2BH were associated with C4A3B1, A4B2, and C4A3B1, respectively. Eight different HLA-complement haplotypes were found to be characteristic of Japanese. These combinations are considerably different from those reported in Caucasoid populations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00430919
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  • 5
    Electronic Resource
    Electronic Resource
    The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: Possible linkage between HLA and the neuraminidase deficiency gene (1985)
    Springer
    Human genetics 〈Berlin〉 70 (1985), S. 341-343 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The possible genetic linkage between HLA and neuraminidase deficiency was studied in a female patient with combined abnormalities of the infantile form of sialidosis type II and congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, and six members of her family. Her parents were consanguineous. The patient has the homozygous HLA haplotypes, TS-1, Cw3, DRw9. Four of the tested family members, including a distant male relative with congenital adrenal hyperplasia, were heterozygous of this HLA complex, and the neuraminidase activities in their skin fibroblasts and/or lymphocytes showed values between those of the patient and controls (25–48%), suggesting a carrier state of sialidosis. This indicates that the neuraminidase deficiency gene, similar to the 21-hydroxylase deficiency gene, is closely linked to the HLA genotype and is located on chromosome 6.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295374
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  • 6
    Electronic Resource
    Electronic Resource
    The association of HLA with diseases in Japanese (1986)
    Springer
    Journal of human genetics 31 (1986), S. 323-329 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The diseases associated with HLA in Japanese, for which more than two laboratories have confirmed the association, were listed. The association first reported by Japanese researchers and confirmed by researchers of other countries like the association of narcolepsy and HLA-DR2 was stressed. There are some diseases like Takayasu' disease, the association of which was found and confirmed only in Japanese. On the other hand, there are many diseases, the association of which has been reported in the races other than Japanese. Extremely close association of HLA-B27 and ankylosing spondilitis has been observed in Japanese as well as the other races, but as to the other B27 related diseases the association is not clear in Japanese. HLA antigens associated with type I diabetes mellitus in Japanese are HLA-Bw54, DR4.1 and DwYT, which are quite different from the ones in Caucasians. The haplotype comparable to Caucasian A1-B8-DR3-Dw3 has not been found in Japanese. The mechanisms of the associations are still remain to be resolved. Some influential hypotheses such as the presence of Ir and Is genes linked to HLA loci and a single mutation were discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01907931
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