Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4‐deficient patients with systemic lupus erythematosus (SLE)

The aim of the present study was to investigate the prevalence of C4 and C2 deficiencies and to characterize genomic alterations in C4 genes in a large cohort of 125 unselected patients with SLE. We determined the protein concentration and functional activity of C2 and C4, as well as the C4 phenotyp...

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Bibliographic Details
Published in:Clinical and experimental immunology 2001-01, Vol.123 (1), p.133-139
Main Authors: Dragon‐Durey, M.‐A., Rougier, N., Clauvel, J.‐P., Caillat‐Zucman, S., Remy, P., Guillevin, L., Liote, F., Blouin, J., Ariey, F., Lambert, B. U., Kazatchkine, M. D., Weiss, L.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Alleles
Biological and medical sciences
complement
Complement C2 - genetics
Complement C4 - biosynthesis
Complement C4 - deficiency
Complement C4 - genetics
Complement C4a - biosynthesis
Complement C4a - deficiency
Complement C4a - genetics
Complement Pathway, Classical - genetics
Female
Gene Deletion
Gene Expression Regulation - immunology
General aspects
genetic deficiencies
Genetic Predisposition to Disease
Genotype
HLA-DR Antigens - genetics
Humans
Immunopathology
Lupus Erythematosus, Systemic - genetics
Lupus Erythematosus, Systemic - immunology
Male
Medical sciences
Middle Aged
Rheumatic Disease
systemic lupus erythematosus
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Summary:The aim of the present study was to investigate the prevalence of C4 and C2 deficiencies and to characterize genomic alterations in C4 genes in a large cohort of 125 unselected patients with SLE. We determined the protein concentration and functional activity of C2 and C4, as well as the C4 phenotype. C4 genotyping included Taq 1 restricted fragment lengh polymorphism (RFLP) analysis and polymerase chain reaction using sequence‐specific primers (SSP‐PCR). Type I C2 deficiency was diagnosed by PCR. Overall, 79·2% of the patients exhibited abnormalities of the C4 genes including deletion, non‐expression, gene conversion and duplication. Among C4‐deficient patients (n = 66, 52·8% prevalence), 41·0% of the patients exhibited a C4A deficiency and 59·0% a C4B deficiency. Half of the C4 deficiencies were due to a gene deletion. There was a strong association between C4A and C4B gene deletion and the presence of the DRB1*03 allele. Among the silent C4A genes, only two cases were related to a 2‐bp insertion in exon 29 of the C4A gene. A gene conversion was demonstrated in eight patients (6·4%). One patient had a homozygous C4A deficiency. Three (2·4%) patients presented with a heterozygous type I C2 deficiency and none with homozygous deficiency. Our results argue against a specific role for C4A gene deficiency in determining disease susceptibility among patients with SLE that are C4‐deficient.
ISSN:0009-9104
1365-2249
DOI:10.1046/j.1365-2249.2001.01438.x