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

Ophthalmic Genet. 2012 Sep;33(3):171-8. doi: 10.3109/13816810.2012.675397. Epub 2012 Jul 18.

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 χ(2) 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 χ(2) 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Case-Control Studies
  • Chondroitin Sulfate Proteoglycans / genetics*
  • Cytoskeletal Proteins / genetics*
  • Eye Proteins / genetics*
  • Gene Frequency
  • Genetic Association Studies
  • Genotype
  • Glycoproteins / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Keratan Sulfate / genetics*
  • Lumican
  • Mass Spectrometry
  • Myopia, Degenerative / genetics*
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics*
  • Polymorphism, Single Nucleotide*
  • Repressor Proteins / genetics*

Substances

  • Chondroitin Sulfate Proteoglycans
  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • Homeodomain Proteins
  • LUM protein, human
  • Lumican
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins
  • trabecular meshwork-induced glucocorticoid response protein
  • Keratan Sulfate