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中国人群中胰岛素样生长因子-1基因多态性与高度近视的关联

Association of insulin-like growth factor-1 polymorphisms with high myopia in the Chinese population.

作者信息

Zhuang Wenjuan, Yang Peizeng, Li Zili, Sheng Xunlun, Zhao Jingjing, Li Shanshan, Yang Xueqiu, Xiang Wei, Rong Weining, Liu Yani, Zhang Fangxia

机构信息

The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, Chongqing, China.

出版信息

Mol Vis. 2012;18:634-44. Epub 2012 Mar 13.

Abstract

PURPOSE

The purpose of this study was to determine whether genetic variants in the insulin-like growth factor-1 (IGF-1) gene were associated with high myopia in the Chinese population.

METHODS

A case-control association study of 421 unrelated Chinese patients with high myopia and 401 control subjects matched in ethnicity and gender was undertaken. Genomic DNA was prepared from peripheral blood. All individuals were genotyped for 7 tag single nucleotide polymorphisms (tSNPs) across the IGF-1 gene region. Genotypic distribution was tested for Hardy-Weinberg equilibrium. The genotype and allele frequencies were evaluated using the χ(2) tests. Bonferroni corrections for multiple comparisons were performed.

RESULTS

The polymorphism of rs12423791 showed positive association with extreme myopia (p(allel)=0.006 and p(allel1 recessive model)=0.004, respectively) after Bonferroni correction for multiple testing and the haplotype GC of rs5742629-rs12423791 was also associated with extreme myopia (p=0.033) after 50,000 permutations for multiple comparisons.

CONCLUSIONS

The polymorphism of rs12423791 in IGF-1 may be associated with extreme myopia in the Chinese population and should be investigated further.

摘要

目的

本研究旨在确定胰岛素样生长因子-1(IGF-1)基因的遗传变异是否与中国人群的高度近视相关。

方法

对421例无亲缘关系的中国高度近视患者和401例种族及性别匹配的对照者进行病例对照关联研究。从外周血中提取基因组DNA。对IGF-1基因区域的7个标签单核苷酸多态性(tSNP)进行基因分型。检验基因型分布是否符合Hardy-Weinberg平衡。使用χ²检验评估基因型和等位基因频率。对多重比较进行Bonferroni校正。

结果

经多重检验的Bonferroni校正后,rs12423791的多态性与极端近视呈正相关(等位基因p = 0.006,隐性模型p = 0.004),rs5742629-rs12423791的单倍型GC在多重比较的50,000次排列后也与极端近视相关(p = 0.033)。

结论

IGF-1中rs12423791的多态性可能与中国人群的极端近视相关,应进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1eb4/3324364/24bfa89e18cc/mv-v18-634-f1.jpg

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