Evaluation of the ELOVL4 gene in patients with age-related macular degeneration

Radha Ayyagari, Kang Zhang, Amy Hutchinson, Zhengya Yu, Anand Swaroop, Laura E. Kakuk, Johanna M. Seddon, Paul S. Bernstein, Richard A. Lewis, Jaana Tammur, Z. Yang, Y. Li, Heidi Zhang, Beverly M. Yashar, Jiafan Liu, Konstantin Petrukhin, Paul A. Sieving, Rando Allikmets

Research output: Contribution to journalArticlepeer-review

47 Scopus citations


Stargardt-like macular degeneration (STGD3) and autosomal dominant macular degeneration (adMD) share phenotypic characters with atrophic age-related macular degeneration (AMD). Mutations in a photoreceptor cell-specific factor involved in the elongation of very long chain fatty acids (ELOVL4) were shown to be associated with STGD3, adMD, and pattern dystrophy. We screened 778 patients with AMD and 551 age-matched controls to define the role of sequence variants in the ELOVL4 gene in age-related macular degeneration. We detected three sequence variants in the non-coding region and eight variants in the coding region. No statistically significant association was observed between sequence variants in the ELOVL4 gene and susceptibility to AMD. However, for the detection of modest effects of multiple alleles in a complex disease, the analysis of larger cohorts of patients may be required.

Original languageEnglish (US)
Pages (from-to)233-239
Number of pages7
JournalOphthalmic Genetics
Issue number4
StatePublished - 2001
Externally publishedYes


  • Allelic variation
  • AMD
  • Atrophic macular degeneration
  • ELOVL4

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)


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