Molecular genetics of C4B deficiency in IgA nephropathy

Welch, Thomas R.; Beischel, Linda; Choi, Edmund

doi:10.1016/0198-8859(89)90012-8

Cited by 18 publications

(8 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There have been several reports which suggest the asso ciation of IgAN and HSN with C4 protein isotype defi ciency, especially B isotype [5][6][7], These reports have shown that the frequency of C4B deficiency in patients with IgAN and HSN is significantly increased compared to the controls (16.7 vs. 4%) [6], and also demonstrated C4 gene deletion at the DNA level [20], However, there has been another report which denied finding simply to regional variation in the frequency of C4 allele in the con trol population [21],…”

Section: Discussionmentioning

confidence: 99%

Complement 4 Locus II Gene Deletion and DQA1*0301 Gene: Genetic Risk Factors for IgA Nephropathy and Henoch-Schönlein Nephritis

Jin

Kohsaka

Koo

et al. 1996

Nephron

View full text Add to dashboard Cite

There have been several reports suggesting that the deficiency of complement 4 (C4) and/or deletion of C4 genes are the genetic risk factors in patients with IgA nephropathy (IgAN) and Henoch-Schönlein nephritis (HSN). In the current study, we tried to clarify the genetic structure of deleted C4 genes as well as the isotype deficiency of the patients. Also, we investigated the DQB and DRB genes which are located near the C4 genes to identify a possible linkage and to find the associated allele. Our results showed that locus II deletion of C4, not the C4B sequence loss, is a risk factor for these diseases and the deleted gene can be either C4A or C4B. There was no specific isotype deficiency or specific allotype which was significantly increased or decreased in the patients. But, there was an increased frequency of DQA1*0301 gene in the patient group (corrected p = 0.04), which suggests that DQA1*0301 as well as C4 gene deletion could be genetic risk factors for these diseases.

show abstract

Section: Discussionmentioning

confidence: 99%

Complement 4 Locus II Gene Deletion and DQA1*0301 Gene: Genetic Risk Factors for IgA Nephropathy and Henoch-Schönlein Nephritis

Jin

Kohsaka

Koo

et al. 1996

Nephron

View full text Add to dashboard Cite

show abstract

“…IgA1-producing plasma cells are, in contrast, not increased in the jejunal mucosa of patients with primary IgA nephropathy [44]. The mesangial IgA deposits in Berger’s disease are usually associated with C3 binding in the same location, whereas C1q and C4 are mostly lacking [24, 29, 31, 32, 45, 46, 47, 48, 49, 50, 51, 52, 53], sometimes interpreted as activation of the alternative complement pathway. IgA rheumatoid factors have been demonstrated in the serum of IgA nephropathy patients [54], but are not considered to play any primary role in the pathogenesis of the renal disease [55, 56].…”

Section: Discussionmentioning

confidence: 99%

IgM/IgA Nephropathy in Callitrichids: Antigen Studies

Brack

Schroeder²,

Fooke³

et al. 1999

Nephron

View full text Add to dashboard Cite

Renal tissues of callitrichids with IgM nephropathy were immunohistochemically examined for the participation of IgA in pathogenesis. In 58 histopathologically nephropathy-positive kidneys, IgM predominated in 20 cases and IgA in 7 cases, and in 31 cases both immunoglobulins were rated to be approximately equally involved. The disease, therefore, might be described as IgM/IgA nephropathy. The renal tissues and sera were also tested for nutritional antigens or antinutritional antigen antibodies, using immunohistochemistry and Western blots (tissues) and enzyme-linked immunosorbent assay (sera). Evidences of nutritional antigens in the renal tissues were inconclusive, although circulating IgG class antibodies against cereals, milk, and egg proteins were present in quite a number of sera. Particular consideration was paid to IgA-antigliadin antibodies, which were statistically significantly associated with nephropathy as were IgA rheumatoid factors. The findings are discussed in relation to human IgA and IgM nephropathies.

show abstract

“…The same genetic variation was shown in Grave's disease [9], in polyarticular onset seronegative juvenile chronic arthritis [10], and in herpes gestation [11]. Nonexpressed C4B (C4B*Q0 allele) was reportedly associated with erythema nodosum [12] and IgA nephropathy [13].…”

Section: Introductionmentioning

confidence: 68%

Rapid quantification of human complement component C4A and C4B genes by capillary gel electrophoresis

et al. 2006

View full text Add to dashboard Cite

Complement component 4 (C4) is an important plasma protein playing a major role in the human defense mechanism against infectious diseases and inflammatory processes. The C4A and C4B genes, encoding the two isoforms of complement 4, are located in the nuclear serine/threonine protein kinase-C4A or B gene-cytochrome 21-hydroxylase-tenascin X module (RP-C4-CYP21-TNX) and manifested by variable copy numbers among individuals between zero to six in the human diploid genome. Quantification of the C4A and C4B genes has great clinical importance since unbalanced production of C4A and C4B proteins might be associated with pathological immune processes. Albeit, high-throughput analysis methods for C4 gene dosage determination are not yet available. Here we present a novel combination of allele-specific PCR and CGE separation for rapid quantification of the C4A and C4B genes where a single-step, single-tube PCR reaction generates two allele-specific (C4A and C4B) and two control amplicons, followed by CGE analysis of the four fragments. The method presented in this paper enables automated and high-throughput gene dosage analysis of large sample cohorts.

show abstract

Molecular genetics of C4B deficiency in IgA nephropathy

Cited by 18 publications

References 17 publications

Complement 4 Locus II Gene Deletion and DQA1*0301 Gene: Genetic Risk Factors for IgA Nephropathy and Henoch-Schönlein Nephritis

Complement 4 Locus II Gene Deletion and DQA1*0301 Gene: Genetic Risk Factors for IgA Nephropathy and Henoch-Schönlein Nephritis

IgM/IgA Nephropathy in Callitrichids: Antigen Studies

Rapid quantification of human complement component C4A and C4B genes by capillary gel electrophoresis

Contact Info

Product

Resources

About