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Genetic heritability of pigmentary glaucoma and associations with other eye phenotypes

JAMA Ophthalmology Feb 04, 2020

Simcoe MJ, et al. - In this genome-wide association study involving 227 affected individuals (mean [SD] age, 58.7 [13.3] years) and 291 control participants (mean [SD] age, 80.2 [4.9] years), researchers estimated the single-nucleotide polymorphism (SNP) heritability of pigmentary glaucoma and identified genetic associations with the disease. Data reported that 45% of disease variance was linked to common SNPs. Pigmentary glaucoma seemed genetically distinct from primary open-angle glaucoma and its endophenotypes, however, some SNPs correlated with eye color and myopia were related to those for pigmentary glaucoma. The findings of this study support the hypothesis that pigmentary glaucoma may be heritable and evidence of shared genetic architecture with pigmentary glaucoma between myopia and iris pigmentation.
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