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Apolipoprotein E Genotypes in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

Krumbiegel, Mandy MSc*; Pasutto, Francesca PhD*; Mardin, Christian Y. MD; Weisschuh, Nicole PhD; Paoli, Daniela MD§; Gramer, Eugen MD; Weber, Bernhard H.F. MD; Kruse, Friedrich E. MD; Schlötzer-Schrehardt, Ursula MD; Reis, André MD*

doi: 10.1097/IJG.0b013e3181ca76c4
Original Studies

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.

*Institute of Human Genetics, University of Erlangen-Nuremberg

Department of Ophthalmology, University Eye Hospital, Erlangen

Molecular Genetics Laboratory, University Eye Hospital, Tuebingen

University Eye Hospital, Wuerzburg

Institute of Human Genetics, University of Regensburg, Regensburg, Germany

§Department of Ophthalmology, Hospital of Monfalcone-Gorizia, Monfalcone-Gorizia, Italy

Supported by Grant SFB 539 from the German Research Foundation.

Reprints: André Reis, MD, Institute of Human Genetics, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany (e-mail:

Received April 22, 2009

Accepted November 10, 2009

© 2010 Lippincott Williams & Wilkins, Inc.