Journal article
Allelic Variants of Complement Genes Associated with Dense Deposit Disease
Journal of the American Society of Nephrology, Vol.22(8), pp.1551-1559
08/2011
DOI: 10.1681/ASN.2010080795
PMCID: PMC3148710
PMID: 21784901
Abstract
The alternative pathway of the complement cascade plays a role in the
pathogenesis of dense deposit disease (DDD). Deficiency of complement factor H
and mutations in
CFH
associate with the development of DDD, but
it is unknown whether allelic variants in other complement genes also associate
with this disease. We studied patients with DDD and identified previously
unreported sequence alterations in several genes in addition to allelic variants
and haplotypes common to patients with DDD. We found that the likelihood of
developing DDD increases with the presence of two or more risk alleles in
CFH
and
C3
. To determine the functional
consequence of this finding, we measured the activity of the alternative pathway
in serum samples from phenotypically normal controls genotyped for variants in
CFH
and
C3
. Alternative pathway activity
was higher in the presence of variants associated with DDD. Taken together,
these data confirm that DDD is a complex genetic disease and may provide targets
for the development of disease-specific therapies.
Details
- Title: Subtitle
- Allelic Variants of Complement Genes Associated with Dense Deposit Disease
- Creators
- Maria Asuncion Abrera-Abeleda - Interdisciplinary PhD Program in GeneticsCarla Nishimura - Department of Otolaryngology–Head and Neck Surgery, andKathy Frees - Department of Otolaryngology–Head and Neck Surgery, andMichael Jones - Department of Otolaryngology–Head and Neck Surgery, andTara Maga - Interdisciplinary PhD Program in GeneticsLouis M Katz - Mississippi Valley Regional Blood Center, Davenport, IowaYuzhou Zhang - Department of Otolaryngology–Head and Neck Surgery, andRichard J.H Smith - Interdisciplinary PhD Program in Genetics
- Resource Type
- Journal article
- Publication Details
- Journal of the American Society of Nephrology, Vol.22(8), pp.1551-1559
- DOI
- 10.1681/ASN.2010080795
- PMID
- 21784901
- PMCID
- PMC3148710
- NLM abbreviation
- J Am Soc Nephrol
- ISSN
- 1046-6673
- eISSN
- 1533-3450
- Publisher
- American Society of Nephrology
- Language
- English
- Date published
- 08/2011
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006458402771
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