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Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.

Publication ,  Journal Article
Weeks, DE; Conley, YP; Tsai, H-J; Mah, TS; Schmidt, S; Postel, EA; Agarwal, A; Haines, JL; Pericak-Vance, MA; Rosenfeld, PJ; Paul, TO ...
Published in: Am J Hum Genet
August 2004

Age-related maculopathy (ARM), or age-related macular degeneration, is one of the most common causes of visual impairment in the elderly population of developed nations. In a combined analysis of two previous genomewide scans that included 391 families, containing up to 452 affected sib pairs, we found linkage evidence in four regions: 1q31, 9p13, 10q26, and 17q25. We now have added a third set of families and have performed an integrated analysis incorporating 530 families and up to 736 affected sib pairs. Under three diagnostic models, we have conducted linkage analyses using parametric (heterogeneity LOD [HLOD] scores under an autosomal dominant model) and nonparametric (Sall statistic) methods. There is ongoing evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. If we treat the third set of families as a replication set, then two regions (10q26 and 17q25) are replicated, with LOD scores >1.0. If we pool all our data together, then four regions (1q31, 2q14.3, 10q26, and 17q25) show HLOD or Sall scores > or =2.0. Within the 1q31 region, we observed an HLOD of 2.72 (genomewide P=.061) under our least stringent diagnostic model, whereas the 17q25 region contained a maximal HLOD of 3.53 (genomewide P=.007) under our intermediate diagnostic model. We have evaluated our results with respect to the findings from several new independent genomewide linkage studies and also have completed ordered subset analyses (OSAs) with apolipoprotein E alleles, smoking history, and age at onset as stratifying covariates. The OSAs generate the interesting hypothesis that the effect of smoking on the risk of ARM is accentuated by a gene in the 10q26 region--a region implicated by four other studies.

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Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

August 2004

Volume

75

Issue

2

Start / End Page

174 / 189

Location

United States

Related Subject Headings

  • Macular Degeneration
  • Lod Score
  • Humans
  • Genotype
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Genetic Linkage
  • Gene Frequency
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 10
 

Citation

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Weeks, D. E., Conley, Y. P., Tsai, H.-J., Mah, T. S., Schmidt, S., Postel, E. A., … Gorin, M. B. (2004). Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet, 75(2), 174–189. https://doi.org/10.1086/422476
Weeks, Daniel E., Yvette P. Conley, Hui-Ju Tsai, Tammy S. Mah, Silke Schmidt, Eric A. Postel, Anita Agarwal, et al. “Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.Am J Hum Genet 75, no. 2 (August 2004): 174–89. https://doi.org/10.1086/422476.
Weeks DE, Conley YP, Tsai H-J, Mah TS, Schmidt S, Postel EA, et al. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet. 2004 Aug;75(2):174–89.
Weeks, Daniel E., et al. “Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.Am J Hum Genet, vol. 75, no. 2, Aug. 2004, pp. 174–89. Pubmed, doi:10.1086/422476.
Weeks DE, Conley YP, Tsai H-J, Mah TS, Schmidt S, Postel EA, Agarwal A, Haines JL, Pericak-Vance MA, Rosenfeld PJ, Paul TO, Eller AW, Morse LS, Dailey JP, Ferrell RE, Gorin MB. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet. 2004 Aug;75(2):174–189.
Journal cover image

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

August 2004

Volume

75

Issue

2

Start / End Page

174 / 189

Location

United States

Related Subject Headings

  • Macular Degeneration
  • Lod Score
  • Humans
  • Genotype
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Genetic Linkage
  • Gene Frequency
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 10