遗传学
邦费罗尼校正
等位基因
等位基因频率
单核苷酸多态性
基因型频率
基因型
精确检验
基因分型
人口
优势比
国际人类基因组单体型图计划
生物
医学
基因
内科学
数学
统计
环境卫生
作者
Lan Li,Ying Cui,Yunchun Zou,Liyuan Yang,Ximin Yin,Liying Yan
标识
DOI:10.1177/1120672120904666
摘要
The aim of this study is to investigate whether SOX2 gene variants were associated with high myopia in a Chinese population.This study is conducted using case-control association analysis. This study recruited 83 healthy controls (with binocular spherical equivalent between -0.50 and +0.50 D) and 117 high myopia cases (spherical equivalent > -6.00 D in both eyes). Three single-nucleotide polymorphisms were selected from HapMap database for genotyping by direct sequencing. Statistical software (SPSS 22.0) was used for statistical analysis. The chi-square test was used to examine the difference in the frequency between cases and controls.Genotype distributions in the three single-nucleotide polymorphisms were all in accordance with the Hardy-Weinberg equilibrium. The differences of rs4575941 locus genotype frequency and allele frequency between the case group and the control group were statistically significant (p = .043 and p = .029, respectively). The rs4575941 allele G frequency in the high myopia group was significantly higher than that in the control group with an odds ratio value of 1.579. However, the value of a chi-square test for the trend was 0.029, and after Bonferroni test, the p value was .087.In Chinese population, rs4575941 in SOX2 gene was likely to play some roles in the genetic susceptibility to high myopia; the rs4575941 allele G might be a risk gene for high myopia.
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