VEGF基因的功能多态性与墨西哥人群中年龄相关性黄斑变性无关

Ramses Rosales-Díaz, A. Santos-García, J. Navarro-Partida, V. Benites-Godínez, Carlos Daniel Díaz-Palomera, A. D. Rodríguez-Carrizalez
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引用次数: 0

摘要

湿型老年性黄斑变性(WAMD)与血管内皮生长因子(VEGF)的表达有关。VEGF基因中的几个单核苷酸多态性(SNPs)与该细胞因子的不同表达模式(功能多态性)相关。在本研究中,我们考虑了位于启动子区(rs699947 A/C、rs833061 C/T、rs1005230 C/T和rs1570360 A/G)的4个snp和位于5 '非翻译区(rs2010963 C/G和rs25648 C/T)的2个snp对转录调控有影响。目的:在墨西哥人群中将功能性snp与WAMD联系起来。方法:采用Taqman®探针,采用聚合酶链反应(PCR)进行等位基因鉴别,对多态性进行基因分型。使用所有遗传模型比较基因型频率。结果:105例确诊为WAMD的患者(女性61例,男性44例,平均年龄74.28±8.32岁)和102例健康对照(女性61例,男性41例,平均年龄67.41±5.78岁)均进行了snp基因分型。两组基因型均符合Hardy-Weinberg平衡。在所有snp分析中,小等位基因频率在组间差异有统计学意义。WAMD组与对照组基因型差异无统计学意义(p > 0.05)。结论:在所分析的墨西哥人群中,未观察到所研究的snp与WAMD的存在之间的关联。我们认为有必要在更大的样本中进一步分析以证实这些发现。
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Functional polymorphisms in the VEGF gene are not associated with age-related macular degeneration in a Mexican population
introduction: The wet form of age-related macular degeneration (WAMD) is related to the expression of vascular endothelial growth factor (VEGF). Several single nucleotide polymorphisms (SNPs) in the VEGF gene are associated with different expression patterns of this cytokine (functional polymorphisms). In this study, we considered 4 SNPs that are located in the promoter region (rs699947 A/C, rs833061 C/T, rs1005230 C/T and rs1570360 A/G) and two in the 5’ untranslated region (rs2010963 C/G and rs25648 C/T) that have an effect on transcriptional regulation. Objective : To associate functional SNPs with WAMD in a Mexican population. Methods : Through allelic discrimination assays, consisting in polymerase chain reactions (PCR) with Taqman® probes, the polymorphisms were genotyped. Genotype frequencies were compared using all inheritance models. results : SNPs were genotyped in 105 patients diagnosed with WAMD (61 women and 44 men, mean age 74.28 ± 8.32 years), and in 102 healthy control subjects (61 women and 41 men, mean age 67.41 ± 5.78 years). Genotypes in both groups were in Hardy-Weinberg equilibrium. In all SNPs analyzed, the minor allele frequency was statistically significant different between the groups. Genotypes were not statistically significant different between the WAMD and the control groups (p > 0.05). conclusion : No association was observed between the studied SNPs and the presence of WAMD in the analyzed Mexican population. We consider that further analysis in larger samples is necessary to confirm these findings.
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