Skip to main content

An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error.

Publication ,  Journal Article
Abbott, D; Li, Y-J; Guggenheim, JA; Metlapally, R; Malecaze, F; Calvas, P; Rosenberg, T; Paget, S; Zayats, T; Mackey, DA; Feng, S; Young, TL
Published in: Mol Vis
2012

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.

Duke Scholars

Published In

Mol Vis

EISSN

1090-0535

Publication Date

2012

Volume

18

Start / End Page

720 / 729

Location

United States

Related Subject Headings

  • White People
  • United States
  • Refractive Errors
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Ophthalmology & Optometry
  • Myopia
  • Middle Aged
  • Male
  • Lod Score
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Abbott, D., Li, Y.-J., Guggenheim, J. A., Metlapally, R., Malecaze, F., Calvas, P., … Young, T. L. (2012). An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. Mol Vis, 18, 720–729.
Abbott, Diana, Yi-Ju Li, Jeremy A. Guggenheim, Ravikanth Metlapally, Francois Malecaze, Patrick Calvas, Thomas Rosenberg, et al. “An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error.Mol Vis 18 (2012): 720–29.
Abbott D, Li Y-J, Guggenheim JA, Metlapally R, Malecaze F, Calvas P, et al. An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. Mol Vis. 2012;18:720–9.
Abbott D, Li Y-J, Guggenheim JA, Metlapally R, Malecaze F, Calvas P, Rosenberg T, Paget S, Zayats T, Mackey DA, Feng S, Young TL. An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. Mol Vis. 2012;18:720–729.

Published In

Mol Vis

EISSN

1090-0535

Publication Date

2012

Volume

18

Start / End Page

720 / 729

Location

United States

Related Subject Headings

  • White People
  • United States
  • Refractive Errors
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Ophthalmology & Optometry
  • Myopia
  • Middle Aged
  • Male
  • Lod Score