May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
A Genome-Wide Scan for Age-Related Macular Degeneration
J.M. Seddon; K. Book; S. Chong; J. Cote; S.L. Santangelo
Author Affiliations & Notes
  • J.M. Seddon
    Ophthalmology/Epidemiology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Harvard School of Public Health, Boston, MA, United States
  • K. Book
    Epidemiology, Massachusetts Eye and Ear Infirmary, Boston, MA, United States
  • S. Chong
    Epidemiology, Massachusetts Eye and Ear Infirmary, Boston, MA, United States
  • J. Cote
    Epidemiology, Massachusetts Eye and Ear Infirmary, Boston, MA, United States
  • S.L. Santangelo
    Psychiatric & Neurodevelopmental Genetics Unit/Psychiatry, Massachusetts General Hospital, Harvard Medical School, Harvard School of Public Health, Boston, MA, United States
  • Footnotes
    Commercial Relationships  J.M. Seddon, None; K. Book, None; S. Chong, None; J. Cote, None; S.L. Santangelo, None.
  • Footnotes
    Support  NIH Grant EY 11309, FFB, Mass. Lions, Inc.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1781. doi:
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      J.M. Seddon, K. Book, S. Chong, J. Cote, S.L. Santangelo; A Genome-Wide Scan for Age-Related Macular Degeneration . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1781.

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Abstract

Abstract: : Purpose: There is ample evidence that age-related macular degeneration has a familial/genetic component. We report the results of a genome-wide scan of 158 multiplex families. Methods: AMD classification was based on fundus photography and was assigned a grade ranging from 1 (no disease) to 5 (exudative disease) according to a modified grading system used in the Age-Related Eye Disease Study. Genotyping was performed by the NHLBI Mammalian Genotyping Service at Marshfield (404 short tandem repeat markers, Weber Screening Set 10). The sample included 158 families with 2 or more siblings with AMD, 479 affected individuals (grade 3 or higher), 138 unaffected (grades 1 or 2 over age 60), and 11 whose affection status was unknown (grades 1 or 2, under age 60). Relative pairs included 514 affected sibling, 28 avuncular, 53 cousin, 7 grandparent-grandchild, and 9 grand avuncular pairs. Two-point parametric (FASTLINK) and multipoint parametric and nonparametric (GENEHUNTER, MERLIN+SimWalk2) analyses were performed. Results: Maximum 2-point LOD scores ranging from 1.0 – 2.0 were found for markers on Chr 1,2,8,10,14,15 and 22. Multipoint analyses were consistent with the 2-point results for Chr 1,2,8,10 and 22 and provided evidence for additional regions of linkage on Chr 3,6,8,12,16 and X. Multipoint heterogeneity LODs =2.4 were found on Chr1 and 2. Our strongest evidence for linkage was found on chromosomes 2 (1 marker), 3 (2 adjacent markers), 8 (7 contiguous markers), and 6 (2 adjacent markers), with empirical p-values = 0.00001 using MERLIN+SimWalk2. Conclusions: Our genome-wide scan for AMD indicated several regions, with internally consistent evidence (from 2-point and/or multipoint, parametric and nonparametric analyses), for linkage to regions on chromosomes 1, 2, 3, 8, 10, 12, 16, and 22; regions on chromosomes 6 and X were identified by only one of the multipoint analysis methods. Significant evidence for linkage was found by one multipoint method for regions on chromosomes 2, 3, 6 and 8.

Keywords: age-related macular degeneration • genetics • linkage analysis 
© 2003, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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