HLA Antigens in Japanese Patients with Systemic Lupus Erythematosus

Hashimoto, Hiroshi; Nishimura, Yasuharu; Dong, Rui; Kimura, Akinori; Sasazuki, Takehiko; Yamanaka, Kenjiro; Tokano, Yoshiaki; Murashima, Atsuko; Kabasawa, Kazuyuki; Hirose, Sachiko

doi:10.3109/03009749409103059

Cited by 64 publications

(52 citation statements)

References 30 publications

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“…Moreover, the risk allele (G allele) of SNP rs3130342 was included in the COX haplotypes in Caucasian populations according to the Sanger MHC haplotype project. However, the HLA-DRB1*0301 allele was almost absent or extremely rare in the Japanese population (Hashimoto et al 1994) and none carried the HLA-DRB1*0301 allele in our case and control individuals. Taken together, the association of rs3130342 with SLE was not due to its linkage disequilibrium with ''COX haplotype'' or HLA-DRB1*1501 in Japanese populations, and rs3130342 might have a causative role in SLE pathogenesis.…”

Section: Discussioncontrasting

confidence: 44%

“…Particular HLA alleles were suggested to be genetic factors susceptible to SLE in the MHC region. Among them, HLA-DRB1*1501 has repeatedly been reported to be associated with SLE in the Japanese population (Hashimoto et al 1994;Ohashi et al 2001). To exclude the possibility that the association of SNP rs3130342 with SLE was due to its linkage disequilibrium with this HLA locus, we genotyped HLA-DRB1 using the 178 patients with SLE and the 365 control subjects (cases 1 Distributions of copy numbers of C4 and its isoforms in the three genotype groups for an SNP rs3130342.…”

Section: Resultsmentioning

confidence: 99%

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Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population

et al. 2007

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Systemic lupus erythematosus (SLE) is one of the common autoimmune diseases, with complex genetic components. Here, we report on a case-control association study of 178 SLE patients and 899 control subjects, using genome-wide gene-based single nucleotide polymorphism (SNP) markers. An SNP, rs3130342, in a 5' flanking region of the TNXB gene revealed a significant association with SLE [P = 0.000000930, odds ratio (OR) 3.11, with 95% confidence interval (95%CI) of 1.89-5.28] in a Japanese population. This association was replicated independently with 203 cases and 294 controls (P = 0.0440, OR 1.52, with 95%CI of 1.01-2.78). Although a copy number variation (CNV) of the C4 gene adjacent to the TNXB gene was reported to be associated with SLE, our analysis on this CNV revealed that the association of CNV of the C4 gene was weaker than the SNP in the TNXB gene and likely to reflect the linkage disequilibrium between C4 CNV and this particular SNP. Stratified analysis also revealed that the association of SNP rs3130342 with SLE was independent of the HLA-DRB1*1501 allele that has been shown to be associated with SLE. Our findings strongly imply that the TNXB gene is a candidate gene susceptible to SLE in the Japanese population.

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Section: Discussioncontrasting

confidence: 44%

Section: Resultsmentioning

confidence: 99%

Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population

et al. 2007

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“…We previously reported association of HLA-DRB1* 1501, 47,48 TNFR2-196R 49 and FCGR2B-232T/T 50 with SLE. In addition, association analysis has been done for CD22 polymorphisms.…”

Section: Genes and Immunity Antinuclear Antibodies (Sato S Personal mentioning

confidence: 94%

Polymorphisms of human CD19 gene: possible association with susceptibility to systemic lupus erythematosus in Japanese

et al. 2002

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CD19 regulates the signaling for B lymphocyte development, activation and proliferation. In mice, CD19 deficiency and overexpression were shown to result in hypogammaglobulinemia and autoantibody production, respectively. In the present study, we screened for the polymorphisms of CD19 , and examined the detected polymorphisms for the association with rheumatoid arthritis (RA), Crohn's disease and systemic lupus erythematosus (SLE). Two SNPs, were decreased (P = 0.0096 and P = 0.028, respectively), in SLE. A GT repeat polymorphism, c.*132(GT) [12][13][14][15][16][17][18] , was detected within the 3'-untranslated region, and individuals with у15 times repeat was significantly increased in the independent two groups of Japanese SLE patients (P = 0.011 and P = 0.035, respectively); the overall difference between total SLE and controls was striking (P = 0. [15][16][17][18] alleles compared with those without these alleles, both in controls and in SLE patients; however, the difference did not reach statistical significance. These results suggested that either the slight reduction in the CD19 mRNA level associated with the elongation of GT repeat, or an allele of another locus in linkage disquilibrium with CD19 (GT) [15][16][17][18] , may be associated with susceptibility to SLE in Japanese. 0061). No association was observed for RA and Crohn's disease. In addition, no variations other than the common polymorphisms were detected in four patients with common variable immunodeficiency, the phenotype of which resembles CD19 deficient mice. In Caucasian SLE families, this GT repeat polymorphism was rare. CD19 mRNA level in the isolated peripheral blood B lymphocytes was lower in individuals possessing (GT)

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“…Since then, HLA studies have been performed on multiple SLE populations of African, Asian, European, and North, Central and South American descent demonstrating different HLA associations among the various ethnic groups. [39][40][41][42][43][44][45][46][47][48][49][50][51] From these studies, HLA-DR2 and -DR3 appear to have the strongest associations with SLE. (HLA-B8 was most consistently associated with SLE, but was later found to be in linkage disequilibrium with -DQ2 and -DR3.)…”

Section: Hla Antigensmentioning

confidence: 99%