Journal article
Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2
Investigative ophthalmology & visual science, v 62(9), 16
01 Jul 2021
PMID: 34241624
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
The purpose of this study was to perform genetic linkage analysis and association analysis on exome genotyping from highly aggregated African American families with nonpathogenic myopia. African Americans are a particularly understudied population with respect to myopia.
One hundred six African American families from the Philadelphia area with a family history of myopia were genotyped using an Illumina ExomePlus array and merged with previous microsatellite data. Myopia was initially measured in mean spherical equivalent (MSE) and converted to a binary phenotype where individuals were identified as affected, unaffected, or unknown. Parametric linkage analysis was performed on both individual variants (single-nucleotide polymorphisms [SNPs] and microsatellites) as well as gene-based markers. Family-based association analysis and transmission disequilibrium test (TDT) analysis modified for rare variants was also performed.
Genetic linkage analysis identified 2 genomewide significant variants at 7p15.2 and 7p14.2 (in the intergenic region between MIR148A and NFE2L3 and in the noncoding RNA LOC401324) and 2 genomewide significant genes (CRHR2 and AVL9) both at 7p14.3. No genomewide results were found in the association analyses.
This study identified a significant linkage peak in African American families for myopia at 7p15.2 to 7p14.2, the first potential risk locus for myopia in African Americans. Interesting candidate genes are located in the region, including PDE1C, which is highly expressed in the eyes, and known to be involved in retinal development. Further identification of the causal variants at this linkage peak will help elucidate the genetics of myopia in this understudied population.
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Details
- Title
- Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2
- Creators
- Claire L Simpson - University of Tennessee Health Science CenterAnthony M Musolf - National Human Genome Research InstituteRoberto Y Cordero - University of Tennessee Health Science CenterJennifer B Cordero - University of Tennessee Health Science CenterLaura Portas - National Human Genome Research InstituteFederico Murgia - National Human Genome Research InstituteDeyana D Lewis - National Institutes of HealthCandace D Middlebrooks - National Human Genome Research InstituteElise B Ciner - Salus UniversityJoan E Bailey-Wilson - University of Tennessee Health Science CenterDwight Stambolian - University of Pennsylvania
- Publication Details
- Investigative ophthalmology & visual science, v 62(9), 16
- Publisher
- ARVO Journals
- Grant note
- R01 EY020483 / NEI NIH HHS 16896 / Cancer Research UK
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pennsylvania College of Optometry (PCO)
- Web of Science ID
- WOS:000685198300008
- Scopus ID
- 2-s2.0-85110304634
- Other Identifier
- 991022088941704721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Ophthalmology