摘要
目的研究BMP2基因是否是中国汉族人群中低度近视的候选基因，从而寻找与近视关联的致病基因位点，揭示近视眼相关的发病环节。方法临床病例对照关联研究。于2013年1月至2014年1月在川北医学院眼视光中心收集无相关的中国汉族南方人群（100名正常对照和100例近视患者），利用HapMap基因型数据库选择标签单核苷酸多态位（SNP），采用SNP直接测序法进行基因分型检测。根据样本所得各SNP基因型，计算其基因型与等位基因的频率；采用卡方检验比较病例-对照组之间基因型与等位基因频率分布的差异。结果共选取3个标签SNP，3个标签SNP（rs7270163、rs2335767、rs1005464）的基因分型结果在对照组和病例组中都符合Hardy—Weinberg平衡检验，人群具有代表性。其中rs1005464基因分型结果矫正前显示出病例-对照组之间基因型频率与等位基因频率的显著性差异（P分别：0．016及0．005），矫正后仍然显示出与近视有关联（Pc=0．014）。结论BMP2基因SNP点rs1005464与近视发病易感性相关，rs1005464位点等位基因A可能是近视的一个危险基因，需进一步加大病例对照样本量及遗传标记位点的密度来加以确证。
Objective To investigate the association of single nucleotide polymorphisms （SNPs） in the BMP2 gene with myopia in Chinese population. Methods A case-control association study of 100 unrelated Chinese patients with myopia and 100 control subjects matched in ethnicity was undertaken. Representative single nucleotide polymorphisms （also known as tag SNP） are selected from the International HapMap database. Three tag SNPs were selected and genotyped. Genotypic distribution was tested for Hardy Weinberg equilibrium. The genotype and allele frequencies were evaluated using the χ^2 tests. Bonferroni and permutation corrections for multiple comparisons were performed. Results Genotype distributions in the three tag SNPs （rs7270163, rs2335767, rs1005464） were all in Hardy-Weinberg equilibrium. The polymorphism of rs1005464 showed positive association with myopia （P =0.005）, even after Bonferroni correction for multiple testing （P =0.014） and after 10,000 permutations for multiple comparisons （P =0.024）. The rs1005464 A allele might be a dangerous allele for development of myopia. Conclusions The polymorphism of rs1005464 in BMP2 gene might be associated with myopia in the Chinese population and should be investigated further.
出处
《中国实用眼科杂志》
2015年第12期1406-1410,共5页
Chinese Journal of Practical Ophthalmology
基金
国家自然科学基金（81341105）,四川省卫生厅课题基金（120442）
