Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2009-3-25
pubmed:abstractText
There is substantial evidence to suggest that complement activation plays a pivotal role in the pathogenesis of IgA nephropathy. Mesangial C3 deposition is seen in approximately 90% of patients and polymeric IgA has been shown to activate the alternative and lectin pathways. In addition there have been reports of deficiency and mutations in the serum complement regulator factor H (CFH) in association with IgA nephropathy. In this study we have examined the hypothesis that CFH is a susceptibility factor for IgA nephropathy. In 46 IgA nephropathy patients we undertook genotyping of three CFH SNPS (rs3753394, rs3753396 and rs1065489). There was no significant difference in the allele frequency of these 3 SNPs between the patients and normal controls. In the same group of patients we undertook mutation screening of CFH exons 18-23 using direct sequencing and found no abnormalities. All the patients had a normal serum factor H concentration. In this small cohort of IgA nephropathy patients we have not found evidence to support the hypothesis that factor H is a major susceptibility factor for the disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1872-9142
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1405-8
pubmed:meshHeading
pubmed-meshheading:19162324-Adolescent, pubmed-meshheading:19162324-Adult, pubmed-meshheading:19162324-Aged, pubmed-meshheading:19162324-Biopsy, pubmed-meshheading:19162324-Cohort Studies, pubmed-meshheading:19162324-Complement C3, pubmed-meshheading:19162324-Complement C4, pubmed-meshheading:19162324-Complement Factor H, pubmed-meshheading:19162324-DNA Mutational Analysis, pubmed-meshheading:19162324-Female, pubmed-meshheading:19162324-Gene Frequency, pubmed-meshheading:19162324-Genetic Predisposition to Disease, pubmed-meshheading:19162324-Genotype, pubmed-meshheading:19162324-Glomerulonephritis, IGA, pubmed-meshheading:19162324-Humans, pubmed-meshheading:19162324-Male, pubmed-meshheading:19162324-Middle Aged, pubmed-meshheading:19162324-Polymorphism, Single Nucleotide, pubmed-meshheading:19162324-Young Adult
pubmed:year
2009
pubmed:articleTitle
Is complement factor H a susceptibility factor for IgA nephropathy?
pubmed:affiliation
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't