Evaluation of the ELOVL4 gene in patients with age-related macular degeneration
| Autor: | Johanna M. Seddon, Jiafan Liu, Kang Zhang, Y. Li, Laura E. Kakuk, Konstantin Petrukhin, Heidi Zhang, Rando Allikmets, Richard A. Lewis, Paul A. Sieving, Jaana Tammur, Paul S. Bernstein, Zhengya Yu, B.M. Yashar, Z. Yang, Amy Hutchinson, Radha Ayyagari, Anand Swaroop |
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| Rok vydání: | 2001 |
| Předmět: |
medicine.medical_specialty
genetic structures Multiple alleles Audiology Biology Polymerase Chain Reaction Polymorphism Single Nucleotide Macular Degeneration Age related medicine Humans Coding region In patient Eye Proteins Gene Genetics (clinical) Aged DNA Primers Sequence (medicine) Genetics Age Factors Genetic Variation Membrane Proteins Exons Middle Aged Macular degeneration medicine.disease Phenotype Introns eye diseases Ophthalmology Mutation Pediatrics Perinatology and Child Health sense organs Polymorphism Restriction Fragment Length |
| Zdroj: | Ophthalmic Genetics. 22:233-239 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.1076/opge.22.4.233.2219 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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