COL11A1 Polymorphisms Are Associated with Primary Angle-Closure Glaucoma Severity

Journal of Ophthalmology
Yani WanXinghuai Sun

Abstract

PLEKHA7 and COL11A1 were genotyped for single-nucleotide polymorphisms (SNPs) to investigate the possible association of these two genes with primary angle-closure glaucoma (PACG) and disease severity. A total of 51 PACG cases and 51 normal controls were recruited. Twelve SNPs in the PLEKHA7 (rs216489, rs1027617, rs366590, rs11024060, rs6486330, rs11024097, and rs11024102) and COL11A1 (rs1676484, rs3753841, rs12138977, rs2126642, and rs2622848) genes were genotyped by direct Sanger sequencing. Distributions of allele frequencies and genotype frequencies in cases and controls, as well as in mild, moderate, and severe subgroups, were compared based on mean defect (MD ≤ 6.00 dB, 6 dB < MD ≤ 12 dB, and MD > 12 dB were considered mild, moderate, and severe, respectively). Independent Student's t-tests and chi-square tests were used to compare characteristics of PACG cases and controls. Chi-square tests were used to compare the distribution of allele frequencies in cases and controls and in MD-based subgroups with various degrees of glaucoma severity. Binary logistic regression was used to compare the distribution of genotype frequencies and calculate odds ratios (OR) with confidence intervals (CI). Three of the 12 SNPs in COL11A1, r...Continue Reading

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Citations

Jan 3, 2020·Current Opinion in Ophthalmology·Chang LiuTin Aung
Mar 18, 2021·The Application of Clinical Genetics·Altaf A Kondkar

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Methods Mentioned

BETA
blood drawn
electrophoresis
PCR
genotyping

Software Mentioned

SPSS
Octopus

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