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Identification of a Potential Susceptibility Locus for Macular Telangiectasia Type 2


Journal Article

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.; Project, M.T.

PLoS One




Cohort Studies Family Health Female Genes-Dominant; DNA; Genetic Linkage Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Haplotypes; Humans; Lod Score; Pedigree; Recombination; Vision Disorders/genetics

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.

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