Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci for Estimating Angle Closure Disease Severity.

Ophthalmology
Chang LiuTin Aung

Abstract

To investigate whether recently identified genetic loci for primary angle-closure glaucoma (PACG) are associated with disease severity. Case-control study. Eight hundred four PACG patients and 943 control participants of Chinese ethnicity from Singapore. The 8 PACG-associated single nucleotide polymorphisms (SNPs; rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 on chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) identified from genome-wide association studies were tested for association with disease severity using logistic regression adjusted for age and gender. A P value of 0.006 was set as significant after Bonferroni correction for testing of 8 loci. We also calculated the weighted genetic risk score (GRS) weighted by the estimated individual SNP effect size on PACG calculated as logarithm of the odds ratio (OR). Disease severity was based on the visual field mean deviation (MD) and classified as early to moderate (MD, >-12 dB) and severe (MD, <-20 dB). Association of PACG loci with severe disease. Of the 804 PACG patients, genotyping data were available for 768 individuals and included 436 w...Continue Reading

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Citations

Jan 6, 2021·Genes·Ryan ZukermanThomas A Ciulla

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