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Genetic heritability of pigmentary glaucoma and associations with other eye phenotypes

JAMA Ophthalmology Mar 20, 2020

Simcoe MJ, et al. - In this genome-wide association study of 227 affected people (mean [SD] age, 58.7 [13.3] years) and 291 control candidates (mean [SD] age, 80.2 [4.9] years), researchers calculated the single-nucleotide polymorphism (SNP) heritability of pigmentary glaucoma and identified genetic associations with the disease. According to results, the SNP heritability of pigmentary glaucoma was 0.45. Pigmentary glaucoma appeared to be genetically distinct from primary open-angle glaucoma and its endophenotypes, but some SNPs correlated with eye color and myopia were related to those for pigmentary glaucoma. The findings of this study support the heritability of pigmentary glaucoma and found evidence of shared genetic architecture between myopia and iris pigmentation with pigmentary glaucoma.

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