Apolipoprotein E polymorphisms in Japanese patients with polypoidal choroidal vasculopathy and exudative age-related macular degeneration

Gotoh, Norimoto; Kuroiwa, Sachiko; Kikuchi, Takanobu; Arai, Jun; Arai, Satoko; Yoshida, Noriko; Yoshimura, Nagahisa

doi:10.1016/j.ajo.2004.05.025

« Previous Next »American Journal of Ophthalmology
Volume 138, Issue 4 , Pages 567-573, October 2004

Apolipoprotein E polymorphisms in Japanese patients with polypoidal choroidal vasculopathy and exudative age-related macular degeneration

Norimoto Gotoh, MD
- Department of Ophthalmology, Shinshu University School of Medicine (N.G., S.K., J.A., S.A., N.Y., N.Y.)
Sachiko Kuroiwa, MD, PhD
- Department of Ophthalmology, Shinshu University School of Medicine (N.G., S.K., J.A., S.A., N.Y., N.Y.)
Takanobu Kikuchi, PhD
- Research Center for Human and Enviromental Sciences (T.K.), Shinshu University, Matsumoto, Japan
Jun Arai, MD
- Department of Ophthalmology, Shinshu University School of Medicine (N.G., S.K., J.A., S.A., N.Y., N.Y.)
Satoko Arai, MD
- Department of Ophthalmology, Shinshu University School of Medicine (N.G., S.K., J.A., S.A., N.Y., N.Y.)
Noriko Yoshida, MD
- Department of Ophthalmology, Shinshu University School of Medicine (N.G., S.K., J.A., S.A., N.Y., N.Y.)
Nagahisa Yoshimura, MD, PhD
- Department of Ophthalmology, Shinshu University School of Medicine (N.G., S.K., J.A., S.A., N.Y., N.Y.)
- Inquiries to Nagahisa Yoshimura, MD, PhD, Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto 390–8621, Japan; fax: (+81) 263-32-9448

Accepted 14 May 2004. published online 14 September 2004.

Purpose

To study the genotypes, allelic frequencies, and polymorphisms of apolipoprotein E (Apo E) in unrelated Japanese patients with polypoidal choroidal vasculopathy (PCV) or exudative age-related macular degeneration (AMD) and control subjects without macular degeneration.

Design

Cross-sectional study.

Methods

Blood samples from 225 subjects older than 50 years were used. The 225 subjects included 58 patients with PCV, 85 with AMD, and 82 without macular degeneration. Coding exons of the Apo E gene were amplified by polymerase chain reaction, and the DNA sequences were determined by direct sequencing with an automated sequencer.

Results

Apo E ε3/ε3 was the most frequent genotype with a prevalence of 79.3% in PCV patients, 76.5% in AMD patients, and 67.1% in the control subjects. However, the differences in the percentages were not statistically significant among the three groups. The most frequently found allele in the three groups was ε3. Patients with PCV and AMD were less likely to have ε2 and ε4 than the control subjects, but the differences were not statistically significant. Five minor Apo E single nucleotide polymorphisms, including ε5 and ε7, were found.

Conclusion

Japanese patients with PCV and AMD were less likely to have ε2 and ε4 polymorphisms, but the differences from the normals were not statistically significant for the Apo E genotypes and allelic frequencies.