| First Author | Danciger M | Year | 2003 |
| Journal | Invest Ophthalmol Vis Sci | Volume | 44 |
| Issue | 6 | Pages | 2442-9 |
| PubMed ID | 12766041 | Mgi Jnum | J:83546 |
| Mgi Id | MGI:2662624 | Doi | 10.1167/iovs.02-1252 |
| Citation | Danciger M, et al. (2003) A strong and highly significant QTL on chromosome 6 that protects the mouse from age-related retinal degeneration. Invest Ophthalmol Vis Sci 44(6):2442-9 |
| abstractText | PURPOSE: BALB/cByJ (C) albino mice have significantly more retinal degeneration as they age than C57BL/6J-c(2J) (B6) albinos. To discover the genetic loci that influence age-related retinal degeneration (ARD), a quantitative genetics study was performed with 8-month-old progeny from an intercross between these two strains. METHODS: The thickness of the outer nuclear layer of the retina was used as the quantitative trait. A genome-wide scan was performed with 86 genetic markers at an average distance of 15.7 cM. Map Manager QTX was used to analyze the data. RESULTS: Three highly significant quantitative trait loci (QTLs) were detected on mouse chromosomes (Chrs) 6, 10, and 16. The B6 alleles were protective against ARD in the first two, and the C allele was protective in the third. Several suggestive, weak QTLs were also found, along with a gender-related effect. The strongest and most highly significant QTL on Chr 6 accounted for 30% of the total genetic effect with a LOD score of 13.5. The RPE65/MET450 variant of major influence on constant light-induced retinal degeneration (LRD) in a previous study of these same two mouse strains had no influence on ARD, and only some of the weak, suggestive QTLs influencing ARD were also observed in LRD. CONCLUSIONS: Because none of the ARD QTLs was homologous to human chromosomal loci so far implicated in age-related macular degeneration, each represents a new candidate gene for potential study. The gene represented by the Chr 6 QTL is of particular interest because it has broad influence, very high significance, and a B6 allele that protects against ARD. |
