Zhao Jing-jing, Yang Xue-qiu, Li Shan-shan, Li Zi-li, Zhuang Wen-juan
Ningxia Medical University, Yinchuan 750004, China.
Zhonghua Yan Ke Za Zhi. 2013 Apr;49(4):334-9.
To investigate whether the polymorphisms of insulin-like growth factor-1 (IGF-1) gene and its regulatory regions are associated with extreme high myopia.
A case-control analysis of 302 subjects with extreme high myopia and 401 controls was undertaken. Genomic DNA was obtained from peripheral blood. Seven tag single nucleotide polymorphisms (tSNP) across the IGF-1 gene region were selected to capture the majority of genetic variation. All tSNP were genotyped using the MassArray platform and MALDI-TOF analysis. Genotypic distribution was tested for Hardy-Weinberg equilibrium. Statistical analyses were performed using the SPSS (version 13.0: SPSS Science, Chicago, IL) software. The genotype and allele frequencies were evaluated using the χ(2) tests and performed by Bonferroni corrections for multiple comparisons. The significance of the differences in the estimated haplotype frequencies between the myopia and control groups was examined on Haploview 4.2 using χ(2) tests, and haplotypes were corrected by using permutation test after running 50 000 times.
Among seven different IGF-1 tSNP tested, the allele frequencies of four tSNP-rs5742629(A/G), rs12423791(G/C), rs35766 (G/A) and rs1457601(T/A) in the myopia and the control groups were A(56.5%, 62.3%)/G(43.5%, 27.7%), G(70.4%, 77.1%)/C(29.6%, 22.9%), G(33.9%, 28.8%)/A(66.1%, 71.2%), T(72.5%, 77.3%)/A(27.5%, 22.7%), respectively. And they showed significant differences (χ(2) = 4.968, 8.059, 4.250, 4.245, P < 0.05) between the two groups. However, only rs12423791 remained significance after Bonferroni correction. The haplotype GC of rs5742629-rs12423791 was associated with extreme high myopia (P = 0.033) after 50 000 permutations for multiple comparisons as well.
The polymorphism of rs12423791 in IGF-1 may be associated with extreme high myopia in the Chinese population.
研究胰岛素样生长因子-1（IGF-1）基因及其调控区域的多态性是否与极端高度近视相关。
对302例极端高度近视患者和401例对照进行病例对照分析。从外周血中获取基因组DNA。选择IGF-1基因区域的7个标签单核苷酸多态性（tSNP）以捕获大部分遗传变异。所有tSNP均使用MassArray平台和基质辅助激光解吸电离飞行时间（MALDI-TOF）分析进行基因分型。检验基因型分布是否符合哈迪-温伯格平衡。使用SPSS（版本13.0：SPSS科学公司，伊利诺伊州芝加哥）软件进行统计分析。使用χ²检验评估基因型和等位基因频率，并通过Bonferroni校正进行多重比较。使用χ²检验在Haploview 4.2上检查近视组和对照组之间估计单倍型频率差异的显著性，运行50000次后使用置换检验对单倍型进行校正。
在测试的7种不同的IGF-1 tSNP中，近视组和对照组中4个tSNP（rs5742629[A/G]、rs12423791[G/C]、rs35766[G/A]和rs1457601[T/A]）的等位基因频率分别为A（56.5%，62.3%）/G（43.5%，27.7%）、G（70.4%，77.1%）/C（29.6%，22.9%）、G（33.9%，28.8%）/A（66.1%，71.2%）、T（72.5%，77.3%）/A（27.5%，22.7%）。两组之间存在显著差异（χ² = 4.968、8.059、4.250、4.245，P < 0.05）。然而，经Bonferroni校正后只有rs12423791仍具有显著性。rs5742629 - rs12423791的单倍型GC在进行50000次多重比较的置换检验后也与极端高度近视相关（P = 0.033）。
IGF-1中rs12423791多态性可能与中国人群的极端高度近视相关。
