Identification of a potential susceptibility locus for macular telangiectasia type 2

Nancy L Parmalee, Carl Schubert, Maria Figueroa, Alan C Bird, Tunde Peto, Mark C Gillies, Paul S Bernstein, Krzysztof Kiryluk, Joseph D Terwilliger, Rando Allikmets, MacTel Project

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19 Citations (Scopus)

Abstract

Macular Telangiectasia type 2 (MacTel) is a relatively rare macular disease of adult onset presenting with distortions in the visual field and leading to progressive loss of visual acuity. For the purpose of a gene mapping study, several pedigrees were ascertained with multiple affected family members. Seventeen families with a total of 71 individuals (including 45 affected or possibly affected) were recruited at clinical centers in 7 countries under the auspices of the MacTel Project. The disease inheritance was consistent with autosomal dominant segregation with reduced penetrance. Genome-wide linkage analysis was performed, followed by analysis of recombination breakpoints. Linkage analysis identified a single peak with multi-point LOD score of 3.45 on chromosome 1 at 1q41-42 under a dominant model. Recombination mapping defined a minimal candidate region of 15.6 Mb, from 214.32 (rs1579634; 219.96 cM) to 229.92 Mb (rs7542797; 235.07 cM), encompassing the 1q41-42 linkage peak. Sanger sequencing of the top 14 positional candidates genes under the linkage peak revealed no causal variants in these pedigrees.

Original languageEnglish
Pages (from-to)e24268
JournalPloS one
Volume7
Issue number8
DOIs
Publication statusPublished - 2012

Keywords

  • Cohort Studies
  • Family Health
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Models, Genetic
  • Pedigree
  • Recombination, Genetic
  • Sequence Analysis, DNA
  • Vision Disorders
  • Journal Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

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  • Cite this

    Parmalee, N. L., Schubert, C., Figueroa, M., Bird, A. C., Peto, T., Gillies, M. C., Bernstein, P. S., Kiryluk, K., Terwilliger, J. D., Allikmets, R., & MacTel Project (2012). Identification of a potential susceptibility locus for macular telangiectasia type 2. PloS one, 7(8), e24268. https://doi.org/10.1371/journal.pone.0024268