Ten SNPs of PAX6, Lumican, and MYOC genes are not associated with high myopia in Han Chinese.
OBJECTIVE
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.
Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
Lili
L
Dai
Ying
Y
Li
Chun Yu
CY
Du
Ling Min
LM
Gong
Cheng Cheng
CC
Han
Xiao Guang
XG
Li
Pan
P
Fan
Song Bin
SB
Fu
D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D011508:Chondroitin Sulfate Proteoglycans / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007632:Keratan Sulfate / Q000235:genetics*; D000071234:Lumican; D013058:Mass Spectrometry; D047728:Myopia, Degenerative / Q000235:genetics*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins / Q000235:genetics*; D000099179:Myocilin
D011508:Chondroitin Sulfate Proteoglycans; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D018398:Homeodomain Proteins; D007632:Keratan Sulfate; D000071234:Lumican; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D000099179:Myocilin; C000604306:LUM protein, human; C000605730:PAX6 protein, human