Scleroderma: possible significance of silent alleles at the C4B locus

Mollenhauer, E.; Schmidt, Reinhold; Heinrichs, Melanie; Rittner, Christian

doi:10.1002/art.1780270619

Cited by 25 publications

(13 citation statements)

References 13 publications

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“…The finding of 2 patients with homozygous C4A*QO is interesting, but the frequency of this allele was normal; in a recently published German study (15), this association was significant. However,…”

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confidence: 92%

A strong association between null alleles at the C4A locus in the major histocompatibility complex and systemic sclerosis

Welsh

et al. 1986

Arthritis & Rheumatism

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confidence: 92%

A strong association between null alleles at the C4A locus in the major histocompatibility complex and systemic sclerosis

Welsh

et al. 1986

Arthritis & Rheumatism

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“…An increased frequency of null alleles at the C4B locus has been reported in patients with scleroderma (Mollenhauer et al, 1984) and schizophrenia (Rudduck et al, 1985). Since autism displays several characteristics of autoimmunity, we have performed analysis of extended haplotypes in autism.…”

Section: Introductionmentioning

confidence: 98%

Increased frequency of the null allele at the complement C4b locus in autism

Warren

Singh

Cole

et al. 1991

Clinical and Experimental Immunology

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SUMMARYAssociations between C4 deficiency and autoimmune disorders have been found over the past several years. Since autism has several autoimmune features, the frequencies of null (no protein produced) alleles at the C4A and C4B loci were studied in 19 subjects with autism and their family members. The autistic subjects and their mothers had significantly increased phenotypic frequencies of the C4B null allele (58% in both the autistic subjects and mothers, compared with 27% in control subjects). The siblings of the autistic subjects also had an increased frequency of the C4B null allele, but this increase was not significant. The fathers had normal frequencies of this null allele. All family members had normal frequencies of the C4A null allele, all normal C4A and C4B alleles and all BF and C2 alleles.

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“…Several immunogenetic studies of SSc patients have been performed and associations with certain HLA class I (8-13), class II ( 12,(14)(15)(16)(17)(18)(19)(20)(21), and class III ( 13,20) antigens were reported. However, these HLA associations were not strong and were sometimes inconsistent with each other.…”

Section: Introductionmentioning

confidence: 99%

The HLA-DR and DQ genes control the autoimmune response to DNA topoisomerase I in systemic sclerosis (scleroderma).

Kuwana¹,

Kaburaki²,

Okano³

et al. 1993

J. Clin. Invest.

102

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HLA class II alleles were determined using the PCR-RFLP method in Japanese systemic sclerosis (scleroderma) patients with (n = 28) or without (n = 34) anti-topoisomerase I antibodies (anti-topo I). Either the DQB1 *0601 or * 0301 allele was recognized in all anti-topo I positive patients, compared with 44% of anti-topo I negative patients (P < 0.00001, relative risk[RR] > 41) or 58% of Japanese healthy control subjects (P < 0.00001, RR > 24). Tyrosine at position 26 in the second hypervariable region in the ,81 domain of the DQB1 gene is common to these two alleles and is not present in any other known DQB1 alleles. We also examined immunoreactivities of anti-topo I positive sera to four different autoantigenic B cell epitopes of topo I molecule that were expressed as recombinant fusion proteins. One major B cell epitope, located within the region corresponding to amino acid residues 74-248, was perfectly associated with the amino acid sequence FLEDR at positions 67-71 in the j1 domain of the DRB gene. Two other epitopes, corresponding to 316-441 or 658-700, were associated with the serologically defined HLA-DR52 antigen. Patients with both FLEDR and DR52 demonstrated higher antitopo I antibody titers. These results suggest that the HLA-DR and DQ genes together control the autoimmune response to topo I in systemic sclerosis. (J. Clin. Invest. 1993. 92:1296-1301

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Scleroderma: possible significance of silent alleles at the C4B locus

Cited by 25 publications

References 13 publications

A strong association between null alleles at the C4A locus in the major histocompatibility complex and systemic sclerosis

A strong association between null alleles at the C4A locus in the major histocompatibility complex and systemic sclerosis

Increased frequency of the null allele at the complement C4b locus in autism

The HLA-DR and DQ genes control the autoimmune response to DNA topoisomerase I in systemic sclerosis (scleroderma).

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