COL11A1 Polymorphisms Are Associated with Primary Angle-Closure Glaucoma Severity

Overview

Journal J Ophthalmol

Publisher Wiley

Specialty Ophthalmology

Date 2019 Feb 28

PMID 30809385

Citations 8

Authors

Yani Wan

Shengjie Li

Yanting Gao

Li Tang

Wenjun Cao

Xinghuai Sun

Affiliations

Soon will be listed here.

Abstract

Purpose: 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.

Method: 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 -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).

Result: Three of the 12 SNPs in COL11A1, rs1676486 (=0.026, OR = 2.089, 95% CI = 1.092-3.996), rs3753841 (=0.036, OR = 1.886, 95% CI = 1.038-3.426), and rs12138977 (=0.024, OR = 2.133, 95% CI = 1.104-4.123) were found to have a significant association with PACG. Furthermore, in the subgroup analysis, rs1676486 (=0.018, OR = 2.416, 95% CI = 1.284-4.544; =0.011, OR = 2.119, 95% CI = 1.204-3.729), rs12138977 (=0.009, OR = 2.158, 95% CI = 1.287-3.618; =0.006, OR = 1.962, 95% CI = 1.239-3.106), and rs3753841 (=0.007, OR = 2.550, 95% CI = 1.344-4.839) showed statistically significant differences between moderate/severe groups and controls.

Conclusion: Our data suggested that COL11A1 rs1676484, rs3753841, and rs12138977 polymorphisms may be of value for further study as potential gene-dependent risk factors for developing PACG. Moreover, COL11A1 rs1676484 and rs12138977 polymorphisms might be associated with PACG disease severity.

Citing Articles

Genetic association of single nucleotide polymorphisms in PLEKHA7 gene with primary angle closure glaucoma (PACG) in a Central-Eastern Punjab cohort of Pakistan.

Asif R, Khalid A, Bashir R, Aslam K, Yousaf K, Waseem R Mol Biol Rep. 2025; 52(1):191.

PMID: 39903387 DOI: 10.1007/s11033-025-10292-x.

Genetic associations in and with primary angle-closure glaucoma susceptibility: A systematic review and meta-analysis.

Wang S, Zhang G, Lu H Indian J Ophthalmol. 2023; 71(2):343-349.

PMID: 36727317 PMC: 10228949. DOI: 10.4103/ijo.IJO_1226_22.

Impact of rs11024102 PLEKHA7, rs3753841 COL11A1 single nucleotide polymorphisms, and serum levels of oxidative stress markers on the risk of primary angle-closure glaucoma in Egyptians.

Aswa M, Helmy H, Noweir S, Ismail S, Taha A, Atef A J Genet Eng Biotechnol. 2022; 20(1):126.

PMID: 36036827 PMC: 9424413. DOI: 10.1186/s43141-022-00400-w.

Interaction of background genetic risk, psychotropic medications, and primary angle closure glaucoma in the UK Biobank.

Sekimitsu S, Wang J, Elze T, V Segre A, Wiggs J, Zebardast N PLoS One. 2022; 17(6):e0270530.

PMID: 35763501 PMC: 9239437. DOI: 10.1371/journal.pone.0270530.

Bioinformatic Prioritization and Functional Annotation of GWAS-Based Candidate Genes for Primary Open-Angle Glaucoma.

Asefa N, Kamali Z, Pereira S, Vaez A, Jansonius N, Bergen A Genes (Basel). 2022; 13(6).

PMID: 35741817 PMC: 9222386. DOI: 10.3390/genes13061055.

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