%0 Journal Article
%A Li, Yi-Ju
%A Guggenheim, Jeremy A.
%A Bulusu, Anuradha
%A Metlapally, Ravikanth
%A Abbott, Diana
%A Malecaze, Francois
%A Calvas, Patrick
%A Rosenberg, Thomas
%A Paget, Sandrine
%A Creer, Rosalind C.
%A Kirov, George
%A Owen, Michael J.
%A Zhao, Bei
%A White, Tristan
%A Mackey, David A.
%A Young, Terri L.
%T An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia
%B Investigative Ophthalmology & Visual Science
%D 2009
%R 10.1167/iovs.08-2781
%J Investigative Ophthalmology & Visual Science
%V 50
%N 7
%P 3116-3127
%@ 1552-5783
%X   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. 
%[ 4/15/2021
%U https://doi.org/10.1167/iovs.08-2781