| NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. | |
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MedLine Citation:
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PMID: 16481888 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Nephrotic syndrome, characterized by edema, proteinuria, hyperlipidemia and low serum albumin, is a manifestation of kidney disease involving the glomeruli. Nephrotic syndrome may be caused by primary kidney disease such as focal segmental glomerulosclerosis. Mutations in the podocin gene, NPHS2, have been shown in familial and sporadic forms of steroid-resistant nephrotic syndrome, including focal segmental glomerulosclerosis. Podocin is an integral membrane protein located at the slit diaphragm of the glomerular permeability barrier. Complete information is lacking for the population frequency of some NPHS2 variants for all racial and ethnic groups. The most frequently reported variant, R229Q, is more common among European-derived populations than African-derived populations. We calculated crude odds ratios and 95% confidence intervals of childhood nephrotic syndrome and focal segmental glomerulosclerosis associated with R229Q heterozygosity using data from five studies. The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent. In contrast, the R229Q variant is associated with a trend toward increased focal segmental glomerulosclerosis risk in European-derived populations, with an estimated increased risk of 20-40%. Our insight into the association between NPHS2 variants and nephrotic disease is hampered by the limitations of the existing studies, including small numbers of affected individuals and suboptimal control groups. Nevertheless, the available data suggest that large epidemiological case-control studies to examine the association between NPHS2 variants and nephrotic syndrome are warranted. |
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Authors:
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Nora Franceschini; Kari E North; Jeffrey B Kopp; Louise McKenzie; Cheryl Winkler |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Genetics in medicine : official journal of the American College of Medical Genetics Volume: 8 ISSN: 1098-3600 ISO Abbreviation: Genet. Med. Publication Date: 2006 Feb |
Date Detail:
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Created Date: 2006-02-16 Completed Date: 2006-04-03 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9815831 Medline TA: Genet Med Country: United States |
Other Details:
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Languages: eng Pagination: 63-75 Citation Subset: IM |
Affiliation:
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Department of Epidemiology, School of Public Health, University of North Carolina, Chapel Hill, NC 27514-3628, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Substitution* Case-Control Studies DNA Mutational Analysis Ethnic Groups Gene Frequency Genotype Glomerulosclerosis, Focal Segmental / ethnology, genetics* Humans Intracellular Signaling Peptides and Proteins Membrane Proteins / genetics* Nephrotic Syndrome / ethnology, genetics* Phenotype Podocytes Polymorphism, Genetic |
| Chemical | |
Reg. No./Substance:
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0/Intracellular Signaling Peptides and Proteins; 0/Membrane Proteins; 0/NPHS2 protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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