Journal article
Genomewide Linkage Scan for Myopia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 22q12
American journal of human genetics, v 75(3), pp 448-459
01 Sep 2004
PMID: 15273935
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Mild/moderate (common) myopia is a very common disorder, with both genetic and environmental influences. The environmental factors are related to near work and can be measured. There are no known genetic loci for common myopia. Our goal is to find evidence for a myopia susceptibility gene causing common myopia. Cycloplegic and manifest refraction were performed on 44 large American families of Ashkenazi Jewish descent, each with at least two affected siblings. Individuals with at least −1.00 diopter or lower in each meridian of both eyes were classified as myopic. Microsatellite genotyping with 387 markers was performed by the Center for Inherited Disease Research. Linkage analyses were conducted with parametric and nonparametric methods by use of 12 different penetrance models. The family-based association test was used for an association scan. A maximum multipoint parametric heterogeneity LOD (HLOD) score of 3.54 was observed at marker D22S685, and nonparametric linkage analyses gave consistent results, with a
P value of .0002 at this marker. The parametric multipoint HLOD scores exceeded 3.0 for a 4-cM interval, and significant evidence of genetic heterogeneity was observed. This genomewide scan is the first step toward identifying a gene on chromosome 22 with an influence on common myopia. At present, we are following up our linkage results on chromosome 22 with a dense map of >1,500 single-nucleotide–polymorphism markers for fine mapping and association analyses. Identification of a susceptibility locus in this region may eventually lead to a better understanding of gene-environment interactions in the causation of this complex trait.
Metrics
1 Record Views
Details
- Title
- Genomewide Linkage Scan for Myopia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 22q12
- Creators
- Dwight Stambolian (Corresponding Author) - University of PennsylvaniaGrace Ibay - National Human Genome Research InstituteLauren Reider - University of PennsylvaniaDebra Dana - University of PennsylvaniaChris Moy - Salus UniversityMelissa Schlifka - University of PennsylvaniaTaura Holmes - National Human Genome Research InstituteElise Ciner - Salus UniversityJoan E. Bailey-Wilson - National Human Genome Research Institute
- Publication Details
- American journal of human genetics, v 75(3), pp 448-459
- Publisher
- Elsevier
- Number of pages
- 12
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pennsylvania College of Optometry (PCO)
- Web of Science ID
- WOS:000223272200009
- Scopus ID
- 2-s2.0-4143102458
- Other Identifier
- 991022088940804721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity