High Myopia Is Not Associated with the SNPs in the TGIF, Lumican, TGFB1, and HGF Genes
High Myopia Is Not Associated with the SNPs in the TGIF, Lumican, TGFB1, and HGF Genes
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DOI：
10.1167/iovs.08-2537
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发表时间：
2009-04-01
影响因子：
4.4
通讯作者：
Zhang, Qingjiong
中科院分区：
文献类型：
--
作者：
Wang, Panfeng;Li, Shiqiang;Zhang, Qingjiong
目的. TGIF、Lumican、TGFB 1和HGF基因中的4个单核苷酸多态性（SNP）已被宣布与中国东南部中国人的高度近视相关，但没有一个被其他研究证实。本研究通过对来自同一地区的受试者进行分析来验证报告的正相关结果。从288例高度近视患者和208例对照者的静脉白细胞中制备DNA。通过限制性片段长度多态性（RFLP）分析对4个基因中的4个SNPs（rs 2229336、rs3759223、rs 1982073和rs3735520）进行基因分型。采用卡方检验比较患者和对照组SNPs的等位基因和基因型频率。在所有496名受试者中均未检测到rs 2229336位点的多态性。其他3个SNPs：rs3759223、rs 1982073和rs3735520在患者组和对照组间差异无统计学意义。该研究不支持高度近视与TGIF中的rs 2229336、Lumican中的rs3759223、TGFB 1中的rs 1982073和HGF中的rs3735520等位基因的关联。这些结果提供了与以前报告相反的观点。合理的标准以及重复性应是遗传关联研究的首要任务，以避免过度扩大假阳性结果，特别是对于高度近视。（Invest Ophthalmol维斯科学。2009; 50：1546-1551）DOI：10.1167/iovs.08-2537
PURPOSE. Four single-nucleotide polymorphisms (SNPs) in the TGIF, lumican, TGFB1, and HGF genes have been declared to be associated with high myopia in Chinese living in southeast China, but none of them has been confirmed by additional studies. This study was conducted to verify the reported positive association results by analysis of subjects from the same region.METHODS. DNA was prepared from venous leukocytes of 288 patients with high myopia and 208 control subjects. The four SNPs (rs2229336, rs3759223, rs1982073, and rs3735520) in the four genes were genotyped by restriction fragment length polymorphism (RFLP) analysis. The allele and genotype frequencies of these SNPs from patients and control subjects were compared by chi(2) test.RESULTS. Polymorphism at rs2229336 was not detected in all 496 subjects. There were no statistically significant differences between patients and control subjects for the other three SNPs: rs3759223, rs1982073, and rs3735520.CONCLUSIONS. The study does not support the association of high myopia with alleles of rs2229336 in TGIF, rs3759223 in lumican, rs1982073 in TGFB1, and rs3735520 in HGF. These results provide a view contrary to those in previous reports. Reasonable criteria as well as replication should be the first priority for genetic association studies to avoid excessive expansion of false-positive results, especially for high myopia. (Invest Ophthalmol Vis Sci. 2009; 50: 1546-1551) DOI:10.1167/iovs.08-2537