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Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related

Nobuo Fuse1, Akiko Miyazawa, Mingge Mengkegale

  • 1Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan. fusen@oph.med.tohoku.ac.jp

American Journal of Ophthalmology
|December 13, 2006
PubMed

Insights

Polymorphisms in the Complement Factor H (CFH) and Hemicentin-1 genes were investigated for association with dry age-related macular degeneration (AMD) in Japanese individuals. Neither gene showed a statistically significant link to dry AMD in this population.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
  • Genetic factors play a role in AMD pathogenesis.
  • The Complement Factor H (CFH) and Hemicentin-1 genes are implicated in AMD risk.

Purpose of the Study:

  • To investigate the association between polymorphisms in the CFH gene and Hemicentin-1 gene at the ARMD1 locus and dry AMD.
  • To analyze these genetic variations in a Japanese patient cohort.

Main Methods:

  • A case-control study involving 80 Japanese patients with dry AMD and 196 Japanese controls.
  • Polymerase chain reaction amplification and direct sequencing of specific exons in the CFH and Hemicentin-1 genes.

Main Results:

  • The previously reported CFH Tyr402His variant was not significantly more frequent in AMD patients (P = .31).
  • Three sequence alterations (Asp5088Val, IVS99-13C/T, His5245Gln) were identified in the Hemicentin-1 gene.
  • The Gln5346Arg variant in Hemicentin-1 was not detected.

Conclusions:

  • The studied CFH gene polymorphisms do not appear to be significantly associated with dry AMD in the Japanese population.
  • Hemicentin-1 gene variations investigated in this study are not statistically linked to dry AMD in Japanese individuals.
  • These findings suggest CFH and Hemicentin-1 genes may not contribute significantly to dry AMD pathogenesis in this cohort.
Abstract

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