Ten SNPs of PAX6, Lumican, and MYOC genes are not associated with high myopia in Han Chinese

Abstract

Purpose: To investigate whether the PAX6, Lumican, and MYOC genes are related to high myopia in Han Chinese since the association between these genes and high myopia is unclear in this patient population.

Methods: Peripheral venous blood samples were collected for DNA extraction from 220 subjects with high myopia (refractive error ≤−10.00 D) vs. normal controls among the Han Chinese of Northeastern China. Mass spectrometry was applied to detect 10 SNP loci of the PAX6, Lumican, and MYOC genes. The candidate region was analyzed using case-control correlation analysis. The χ² test was used to analyze the allele and genotype frequencies in the myopic group vs. the control group. Haploview software was used for haplotype analysis.

Results: The χ² test was used to compare the allele and genotype frequencies of SNPs in patients and control subjects and the results showed that ten SNPs of the PAX6, Lumican, and MYOC genes were not significantly associated with high myopia.

Conclusions: Our results confirm that the PAX6, Lumican, and MYOC genes were not associated with high myopia in the Han Chinese in Northeastern China.

KEYWORDS::

• High myopia
• PAX6
• MYOC
• LUM
• Association analysis

ACKNOWLEDGEMENTS

This project was funded by the Natural Science Foundation, Heilongjiang Province (No. D200839) and the PhD Research Fund of the Second Affiliated Hospital of Harbin Medical University (No. BS2008-13 and No. BS2010-11) and the Science & Technology Foundation of Heilongjiang Education Department (No. 12511312) and the Program of Heilongjiang Health Department (No. 2011-079).

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.