Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2003 Oct;73(4):780-90.
doi: 10.1086/378505. Epub 2003 Aug 22.

A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions

Johanna M Seddon  1 , Susan L Santangelo, Kathryn Book, Sandy Chong, Jennifer Cote
Affiliations

A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions

Johanna M Seddon et al. Am J Hum Genet. 2003 Oct.

Abstract

We report the results of a genomewide scan for age-related macular degeneration (AMD) in 158 multiplex families. AMD classification was based on fundus photography and was assigned a grade ranging from 1 (no disease) to 5 (exudative disease). Genotyping was performed by the National Heart, Lung, and Blood Institute Mammalian Genotyping Service at Marshfield (404 short tandem repeat markers). The sample included 158 families with two or more siblings with AMD, 490 affected individuals, 101 unaffected individuals, and 38 whose affection status was unknown. Relative pairs included 511 affected sibling, 28 avuncular, 53 cousin, 7 grandparent-grandchild, and 9 grand-avuncular pairs. Two-point parametric and multipoint parametric and nonparametric analyses were performed. Maximum two-point LOD scores of 1.0-2.0 were found for markers on chromosomes 1, 2, 8, 10, 14, 15, and 22. Multipoint analyses were consistent with the two-point results for chromosomes 1, 2, 8, 10, and 22 and provided evidence for additional linkage regions on chromosomes 3, 6, 8, 12, 16, and X. Our signals on chromosomes 1q, 6p, and 10q are consistent with some other previously published results. Significant linkage to AMD was found for one marker on chromosome 2, two adjacent markers on chromosome 3, two adjacent markers on chromosome 6, and seven contiguous markers on chromosome 8, with empirical P values of .00001. The consistency of many of the other signals across both two-point and multipoint, as well as parametric and nonparametric, analyses indicate several other regions worthy of follow-up.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Multipoint NPL analysis results for the AMD genome scan. Multipoint NPL scores were calculated with the Genehunter version 2.1 software package. In each graph, the chromosome number represented is indicated at the top of the chart, the NPL score is indicated on the left vertical axis and is traced on the curve. The positions of the microsatellite markers and the length of each chromosome are indicated on the horizontal axis.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Center for Medical Genetics, Marshfield Clinic, http://research.marshfieldclinic.org/genetics/
    1. Center for Statistical Genetics, University of Michigan, http://www.sph.umich.edu/statgen/boehnke/relpair.html (for RELPAIR)
    1. Fastlink Home Page, http://www.ncbi.nlm.nih.gov/CBBresearch/Schaffer/fastlink.html
    1. Kruglyak Labs, Fred Hutchinson Cancer Research Center, http://www.fhcrc.org/labs/kruglyak/Downloads/index.html (for Genehunter)
    1. Mendel, UCLA Human Genetics Software, http://www.genetics.ucla.edu/software/mendel.html

References

    1. Abecasis GR, Cherny SS, Cookson WO,Cardon LR (2002) Merlin—rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97–101 - PubMed
    1. Allikmets R (2000) Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet 67:487–491 - PMC - PubMed
    1. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805–1807 - PubMed
    1. AREDS Research Group (2001a) The Age-Related Eye Disease Study system for classifying age-related macular degeneration from stereoscopic color fundus photographs: the Age-Related Eye Disease Study report number 6. Am J Ophthalmol 132:668–681 - PubMed
    1. ——— (2001b) A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report number 8. Arch Ophthalmol 119:1417–1436 - PMC - PubMed

Publication types