Dai Lili, Li Ying, Du Chun Yu, Gong Ling Min, Han Cheng Cheng, Li Xiao Guang, Fan Pan, Fu Song Bin
Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
Ophthalmic Genet. 2012 Sep;33(3):171-8. doi: 10.3109/13816810.2012.675397. Epub 2012 Jul 18.
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.
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.
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.
Our results confirm that the PAX6, Lumican, and MYOC genes were not associated with high myopia in the Han Chinese in Northeastern China.
鉴于PAX6、核心蛋白聚糖和肌纤蛋白基因与高度近视之间的关联在汉族人群中尚不明确，本研究旨在探讨这些基因是否与汉族人群的高度近视相关。
收集了中国东北地区汉族人群中220例高度近视患者（屈光不正≤-10.00 D）和正常对照者的外周静脉血样本用于DNA提取。采用质谱法检测PAX6、核心蛋白聚糖和肌纤蛋白基因的10个单核苷酸多态性（SNP）位点。运用病例对照相关性分析对候选区域进行分析。采用χ²检验分析近视组与对照组的等位基因和基因型频率。使用Haploview软件进行单倍型分析。
采用χ²检验比较患者和对照者中SNP的等位基因和基因型频率，结果显示PAX6、核心蛋白聚糖和肌纤蛋白基因的10个SNP与高度近视无显著关联。
我们的结果证实，PAX6、核心蛋白聚糖和肌纤蛋白基因与中国东北地区汉族人群的高度近视无关。
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