Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci for Estimating Angle Closure Disease Severity
نویسندگان
چکیده
PurposeTo investigate whether recently identified genetic loci for primary angle-closure glaucoma (PACG) are associated with disease severity.DesignCase-control study.ParticipantsEight hundred four PACG patients and 943 control participants of Chinese ethnicity from Singapore.MethodsThe 8 PACG-associated single nucleotide polymorphisms (SNPs; rs11024102 at PLEKHA7, rs3753841 COL11A1, rs1015213 located between PCMTD1 ST18 on chromosome 8q, rs3816415 EPDR1, rs1258267 CHAT, rs736893 GLIS3, rs7494379 FERMT2, rs3739821 mapping in DPM2 FAM102A) genome-wide association studies were tested severity using logistic regression adjusted age gender. A P value 0.006 was set as significant after Bonferroni correction testing loci. We also calculated the weighted risk score (GRS) by estimated individual SNP effect size logarithm odds ratio (OR). Disease based visual field mean deviation (MD) classified early to moderate (MD, >–12 dB) severe <–20 dB).Main Outcome MeasuresAssociation disease.ResultsOf 804 patients, genotyping data available 768 individuals included 436 mild-to-moderate 206 PACG. The significantly older (mean age, 64.3 ± 9.1 years vs. 56.4 8.9 years; < 0.001) there proportionately more women compared (58.4% 49.0%; 0.001). Of investigated, we observed evidence 1 SNP, namely EPDR1 (OR, 2.03; 95% confidence interval [CI], 1.49–2.78; = × 10–5). higher-weighted GRS PACG, an OR 3.11 (95% CI, 1.95–4.96) comparing lowest quartile highest quartile.ConclusionsOur results show that is suggesting it may predispose aggressive development. Individuals a higher To severity. Case-control study. Eight Singapore. dB). Association disease. quartile. Our
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The picture of primary angle-closure glaucoma accompanied by its shallow anterior chamber is so distinct that for many years it has evoked considerable curiosity concerning possible genetic determination. Family trees were published (Sedan and Sedan-Bauby, 1949; Waardenburg, I96I) and attempts were made to fit the inheritance into a genetic pattern-but without convincing success. Authors seemed...
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ژورنال
عنوان ژورنال: Ophthalmology
سال: 2021
ISSN: ['2468-7162', '2468-7170']
DOI: https://doi.org/10.1016/j.ophtha.2020.07.027