Genetic Association Study Between the COL11A1 and COL18A1 Genes and High Myopia in a Han Chinese Population

Genetic Testing and Molecular Biomarkers
Haiyan WuYi Shi

Abstract

To evaluate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in collagen, type XI, alpha 1 (COL11A1) and collagen, type XVIII, alpha 1 (COL18A1) genes in a Han Chinese population. A total of 869 patients with HM and 804 controls were recruited for this study. The genotyping of five SNPs in COL11A1 and COL18A1 was performed using the SNaPshot method. The genotyping data were analyzed using the χ2 test, and the linkage disequilibrium block structure was calculated and examined by Haploview software. No statistically significant differences (p > 0.05) were identified between HM cases and controls after a Bonferroni correction for multiple tests in the allele frequencies of COL11A1 and COL18A1 SNPs. However, the G allele of rs2236475 showed a susceptible effect for HM (p = 0.016, corrected p = 0.08, odds ratio [OR] = 1.26). Moreover, the carriers of rs2236475GG genotype displayed an increased risk of HM compared with the rs2236475AA and rs2236475AG+AA genotypes (p = 0.008, OR = 1.79, confidence interval [95% CI] = 1.18-2.64, uncorrected; p = 0.012, OR = 1.74, 95% CI = 1.12-2.57, corrected, respectively). Our results suggested that common polymorphisms in these two candidate genes were unlikely to ...Continue Reading

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Citations

Jan 7, 2020·Royal Society Open Science·Arya PamuncakIrwanda Laory
Jul 6, 2021·Frontiers in Cell and Developmental Biology·Yang LiuWen-Juan Zhuang

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Methods Mentioned

BETA
genotyping

Software Mentioned

Haploview
SPSS

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