| Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma. | |
| | |
MedLine Citation:
|
PMID: 20543710 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
PURPOSE: Pseudoexfoliation (PEX) syndrome, an age-related, systemic, elastic microfibrillopathy, is characterized by fibrillar-granular deposits in the anterior segment of the eye. Although not representing a true amyloidosis, PEX syndrome shares some features with amyloid disorders, such as Alzheimer disease. It has been shown that amyloid-associated proteins also occur in association with PEX fibrils. Apolipoprotein E (Apo-E) is directly involved in these amyloid deposition and fibrils formation. The ε4 allele of APOE gene was shown to be associated both with an increased risk for coronary heart disease and late-onset Alzheimer disease. In this study, we therefore investigated whether APOE alleles are associated with PEX syndrome and/or PEX glaucoma (PEXG) in 2 large cohorts of German and Italian origin. METHODS: The 3 common APOE alleles ε2, ε3, and ε4 were genotyped in 661 unrelated patients (459 PEXG and 202 PEX patients) and 342 healthy individuals of German origin and furthermore in 209 unrelated patients (133 PEXG and 76 PEX patients) and 190 healthy individuals of Italian origin using TaqMan assays for allelic discrimination. A genetic association study was then performed. RESULTS: The ε3 allele was found to be the most common in both populations (80% to 83%), whereas the ε2 allele was the rarest (6% to 9%). No significant differences in allele and genotype frequencies between both groups were observed in either population. CONCLUSION: Our data show that APOE genotypes are not associated with PEX and PEXG in either Germans or Italians. |
| | |
Authors:
|
Mandy Krumbiegel; Francesca Pasutto; Christian Y Mardin; Nicole Weisschuh; Daniela Paoli; Eugen Gramer; Bernhard H F Weber; Friedrich E Kruse; Ursula Schlötzer-Schrehardt; André Reis |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Journal of glaucoma Volume: 19 ISSN: 1536-481X ISO Abbreviation: J. Glaucoma Publication Date: 2010 Oct-Nov |
Date Detail:
|
Created Date: 2010-10-15 Completed Date: 2011-01-14 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9300903 Medline TA: J Glaucoma Country: United States |
Other Details:
|
Languages: eng Pagination: 561-5 Citation Subset: IM |
Affiliation:
|
Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Aged Aged, 80 and over Alleles Apolipoproteins E / genetics* Exfoliation Syndrome / genetics* Female Genotype Glaucoma, Open-Angle / genetics* Humans Intraocular Pressure Male Middle Aged |
| Chemical | |
Reg. No./Substance:
|
0/Apolipoproteins E |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Kounis syndrome presenting with cardiogenic shock.
Next Document: Neuropeptide Y receptor Y2 gene polymorphism interacts with plasma neuropeptide Y levels in predicti...