| Autor: |
Sobrin L; Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Maller JB, Neale BM, Reynolds RC, Fagerness JA, Daly MJ, Seddon JM |
| Jazyk: |
angličtina |
| Zdroj: |
European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Apr; Vol. 18 (4), pp. 496-501. Date of Electronic Publication: 2009 Oct 21. |
| DOI: |
10.1038/ejhg.2009.185 |
| Abstrakt: |
About 40% of the genetic variance of age-related macular degeneration (AMD) can be explained by a common variation at five common single-nucleotide polymorphisms (SNPs). We evaluated the degree to which these known variants explain the clustering of AMD in a group of densely affected families. We sought to determine whether the actual number of risk alleles at the five variants in densely affected families matched the expected number. Using data from 322 families with AMD, we used a simulation strategy to generate comparison groups of families and determined whether their genetic profile at the known AMD risk loci differed from the observed genetic profile, given the density of disease observed. Overall, the genotypic loads for the five SNPs in the families did not deviate significantly from the genotypic loads predicted by the simulation. However, for a subset of densely affected families, the mean genotypic load in the families was significantly lower than the expected load determined from the simulation. Given that these densely affected families may harbor rare, more penetrant variants for AMD, linkage analyses and resequencing targeting these families may be an effective approach to finding additional implicated genes. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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