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An international collaborative family-based whole-genome linkage scan for high-grade myopia

Li, Yi-Ju, Guggenheim, Jeremy Andrew ORCID:, Bulusu, Anuradha, Metlapally, Ravikanth, Abbott, Diana, Malecaze, Francois, Calvas, Patrick, Rosenberg, Thomas, Paget, Sandrine, Creer, Rosalind C., Kirov, George ORCID:, Owen, Michael John ORCID:, Zhao, Bei, White, Tristan, Mackey, David A. and Young, Terri L. 2009. An international collaborative family-based whole-genome linkage scan for high-grade myopia. Investigative Ophthalmology & Visual Science 50 (7) , pp. 3116-3127. 10.1167/iovs.08-2781

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purpose. Several nonsyndromic high-grade myopia loci have been mapped primarily by microsatellite markers and a limited number of pedigrees. In this study, whole-genome linkage scans were performed for high-grade myopia, using single nucleotide polymorphisms (SNPs) in 254 families from five independent sites. methods. Genomic DNA samples from 1411 subjects were genotyped (Linkage Panel IVb; Illumina, San Diego, CA). Linkage analyses were performed on 1201 samples from 10 Asian, 12 African-American, and 221 Caucasian families, screening for 5744 SNPs after quality-control exclusions. Two disease states defined by sphere (SPH) and spherical equivalence (SE; sphere+cylinder/2) were analyzed. Parametric and nonparametric two-point and multipoint linkage analyses were performed using the FASTLINK, HOMOG, and MERLIN programs. Multiple stratified datasets were examined, including overall, center-specific, and race-specific. Linkage regions were declared suggestive if they had a peak LOD score ? 1.5. results. The MYP1, MYP3, MYP6, MYP11, MYP12, and MYP14 loci were replicated. The novel region q34.11 on chromosome 9 (max NPL= 2.07 at rs913275) was identified. Chromosome 12, region q21.2-24.12 (36.59 cM, MYP3 locus) showed significant linkage (peak HLOD = 3.48) at rs337663 in the overall dataset by SPH and was detected by the Duke, Asian, and Caucasian subsets as well. Potential shared interval was race dependent—a 9.4-cM region (rs163016–rs1520724) driven by the Asian subset and a 13.43-cM region (rs163016–rs1520724) driven by the Caucasian subset. conclusions. The present study is the largest linkage scan to date for familial high-grade myopia. The outcomes will facilitate the identification of genes implicated in myopic refractive error development and ocular growth.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Optometry and Vision Sciences
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Publisher: Association for Research in Vision and Ophthalmology
ISSN: 0146-0404
Last Modified: 02 May 2023 19:29

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