Zhao Yan Yan, Zhang Feng Ju, Zhu Si Quan, Duan Hui, Li Yang, Zhou Zhong Jun, Ma Wen Xian, Li Wang Ning
Eye Center of Beijing Tongren Hospital of Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China.
Mol Vis. 2011 Apr 22;17:1003-10.
High myopia is a severe hereditary ocular disease leading to blindness. LAMA1 (alpha subunit of laminin) is a promising candidate gene for high myopia present in the MYP2 (myopia 2) region. The purpose of this study was to determine if high myopia is associated with single nucleotide polymorphism (SNP) variants in LAMA1 in Chinese subjects.
Ninety-seven Chinese subjects with high myopia and ethnically and sexually matched 103 normal controls were enrolled. Genomic DNA was prepared from peripheral blood. The 5 SNPs of LAMA1 were analyzed using PCR and SNaPshot. Allele frequencies were tested for Hardy-Weinberg disequilibrium. The genotype and allele frequencies were evaluated using the χ(2) tests or the Fisher exact tests.
One of the 5 SNPs showed a significant difference between patients and control subjects (rs2089760: p(genotype)=0.005, p(allel)=0.003). There were no statistically significant differences between patients and control subjects for the other four SNPs: rs566655, rs11664063, rs607230, and rs3810046.
Our results indicate that the polymorphism of rs2089760, located in the promoter region of LAMA1, may be associated with high myopia in the Chinese population and should be investigated further.
高度近视是一种导致失明的严重遗传性眼病。层粘连蛋白α1（LAMA1）是位于近视2（MYP2）区域的一个有潜力的高度近视候选基因。本研究的目的是确定在中国人群中高度近视是否与LAMA1中的单核苷酸多态性（SNP）变异相关。
招募了97名患有高度近视的中国受试者以及在种族和性别上匹配的103名正常对照者。从外周血中提取基因组DNA。使用聚合酶链反应（PCR）和SNaPshot分析LAMA1的5个单核苷酸多态性。对等位基因频率进行哈迪-温伯格平衡检验。使用卡方检验或费舍尔精确检验评估基因型和等位基因频率。
5个单核苷酸多态性中的一个在患者和对照者之间显示出显著差异（rs2089760：基因型p = 0.005，等位基因p = 0.003）。其他四个单核苷酸多态性（rs566655、rs11664063、rs607230和rs3810046）在患者和对照者之间没有统计学上的显著差异。
我们的结果表明，位于LAMA1启动子区域的rs2089760多态性可能与中国人群中的高度近视相关，应进一步研究。
