Document Detail


An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error.
MedLine Citation:
PMID:  22509102     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: To investigate quantitative trait loci linked to refractive error, we performed a genome-wide quantitative trait linkage analysis using single nucleotide polymorphism markers and family data from five international sites.
METHODS: Genomic DNA samples from 254 families were genotyped by the Center for Inherited Disease Research using the Illumina Linkage Panel IVb. Quantitative trait linkage analysis was performed on 225 Caucasian families and 4,656 markers after accounting for linkage disequilibrium and quality control exclusions. Two refractive quantitative phenotypes, sphere (SPH) and spherical equivalent (SE), were analyzed. The SOLAR program was used to estimate identity by descent probabilities and to conduct two-point and multipoint quantitative trait linkage analyses.
RESULTS: We found 29 markers and 11 linkage regions reaching peak two-point and multipoint logarithms of the odds (LODs)>1.5. Four linkage regions revealed at least one LOD score greater than 2: chromosome 6q13-6q16.1 (LOD=1.96 for SPH, 2.18 for SE), chromosome 5q35.1-35.2 (LOD=2.05 for SPH, 1.80 for SE), chromosome 7q11.23-7q21.2 (LOD=1.19 for SPH, 2.03 for SE), and chromosome 3q29 (LOD=1.07 for SPH, 2.05 for SE). Among these, the chromosome 6 and chromosome 5 regions showed the most consistent results between SPH and SEM. Four linkage regions with multipoint scores above 1.5 are near or within the known myopia (MYP) loci of MYP3, MYP12, MYP14, and MYP16. Overall, we observed consistent linkage signals across the SPH and SEM phenotypes, although scores were generally higher for the SEM phenotype.
CONCLUSIONS: Our quantitative trait linkage analyses of a large myopia family cohort provided additional evidence for several known MYP loci, and identified two additional potential loci at chromosome 6q13-16.1 and chromosome 5q35.1-35.2 for myopia. These results will benefit the efforts toward determining genes for myopic refractive error.
Authors:
Diana Abbott; Yi-Ju Li; Jeremy A Guggenheim; Ravikanth Metlapally; Francois Malecaze; Patrick Calvas; Thomas Rosenberg; Sandrine Paget; Tetyana Zayats; David A Mackey; Sheng Feng; Terri L Young
Publication Detail:
Type:  Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-03-26
Journal Detail:
Title:  Molecular vision     Volume:  18     ISSN:  1090-0535     ISO Abbreviation:  Mol. Vis.     Publication Date:  2012  
Date Detail:
Created Date:  2012-04-17     Completed Date:  2012-07-09     Revised Date:  2013-06-26    
Medline Journal Info:
Nlm Unique ID:  9605351     Medline TA:  Mol Vis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  720-9     Citation Subset:  IM    
Affiliation:
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Australia
Biological Markers / metabolism*
Chromosomes, Human / genetics
Cohort Studies
Europe
European Continental Ancestry Group / genetics*
Female
Genetic Linkage
Genome, Human
Genome-Wide Association Study
Humans
International Cooperation
Lod Score
Male
Middle Aged
Myopia / genetics*
Polymorphism, Single Nucleotide
Quantitative Trait Loci / genetics*
Refractive Errors / genetics*
United States
Grant Support
ID/Acronym/Agency:
N01-HG-65403/HG/NHGRI NIH HHS; R01 EY014685/EY/NEI NIH HHS; R01EY014685/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Biological Markers
Comments/Corrections

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