title: Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.
abstract: Stargardt-like macular degeneration (STGD(3)) 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 (ELOVL(4)) were shown to be associated with STGD(3), adMD, and pattern dystrophy. We screened 778 patients with AMD and 551 age-matched controls to define the role of sequence variants in the ELOVL(4) 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 ELOVL(4) 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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA.
authors.forename: R
authors.initials: R
authors.lastname: Ayyagari
authors.forename: K
authors.initials: K
authors.lastname: Zhang
authors.forename: A
authors.initials: A
authors.lastname: Hutchinson
authors.forename: Z
authors.initials: Z
authors.lastname: Yu
authors.forename: A
authors.initials: A
authors.lastname: Swaroop
authors.forename: L E
authors.initials: LE
authors.lastname: Kakuk
authors.forename: J M
authors.initials: JM
authors.lastname: Seddon
authors.forename: P S
authors.initials: PS
authors.lastname: Bernstein
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
authors.forename: J
authors.initials: J
authors.lastname: Tammur
authors.forename: Z
authors.initials: Z
authors.lastname: Yang
authors.forename: Y
authors.initials: Y
authors.lastname: Li
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.forename: B M
authors.initials: BM
authors.lastname: Yashar
authors.forename: J
authors.initials: J
authors.lastname: Liu
authors.forename: K
authors.initials: K
authors.lastname: Petrukhin
authors.forename: P A
authors.initials: PA
authors.lastname: Sieving
authors.forename: R
authors.initials: R
authors.lastname: Allikmets
mesh_terms: D000367:Age Factors; D000368:Aged; D017931:DNA Primers / Q000737:chemistry; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007438:Introns; D008268:Macular Degeneration / Q000235:genetics* / Q000503:physiopathology; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D017931:DNA Primers; C418975:ELOVL4 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins