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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2001-2-22
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pubmed:abstractText |
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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-10529130,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-1401069,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-1563101,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-1577763,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-1801308,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-1976809,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-2295875,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-2505368,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-2996881,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-3018042,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-3499152,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-3873410,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-6401549,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-6546707,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-7728395,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-7792766,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-7932427,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-8095158,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-8305927,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-8341140,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-8343187,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-8461918,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-8473511,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-9083894,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-9663471,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-9663473,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-9743333,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-9777334,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-9778222,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11168010-9843983
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0009-9104
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pubmed:author |
pubmed-author:ArietMM,
pubmed-author:BlouinJJ,
pubmed-author:Caillat-ZucmanSS,
pubmed-author:ClauvelJ PJP,
pubmed-author:Dragon-DureyM AMA,
pubmed-author:GuillevinLL,
pubmed-author:KazatchkineM DMD,
pubmed-author:LambertB UBU,
pubmed-author:LioteFF,
pubmed-author:RemyPP,
pubmed-author:RougierNN,
pubmed-author:WeissLL
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pubmed:issnType |
Print
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pubmed:volume |
123
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
133-9
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:11168010-Adolescent,
pubmed-meshheading:11168010-Adult,
pubmed-meshheading:11168010-Aged,
pubmed-meshheading:11168010-Alleles,
pubmed-meshheading:11168010-Complement C2,
pubmed-meshheading:11168010-Complement C4,
pubmed-meshheading:11168010-Complement C4a,
pubmed-meshheading:11168010-Complement Pathway, Classical,
pubmed-meshheading:11168010-Female,
pubmed-meshheading:11168010-Gene Deletion,
pubmed-meshheading:11168010-Gene Expression Regulation,
pubmed-meshheading:11168010-Genetic Predisposition to Disease,
pubmed-meshheading:11168010-Genotype,
pubmed-meshheading:11168010-HLA-DR Antigens,
pubmed-meshheading:11168010-Humans,
pubmed-meshheading:11168010-Lupus Erythematosus, Systemic,
pubmed-meshheading:11168010-Male,
pubmed-meshheading:11168010-Middle Aged
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pubmed:year |
2001
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pubmed:articleTitle |
Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE).
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pubmed:affiliation |
Service d'Immunologie Clinique/Biologique, Hôpital Européen Georges Pompidou, Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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