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首页> 外文期刊>Journal of Ophthalmology >Comparison of SNP Genotypes Related to Proliferative Vitreoretinopathy (PVR) across Slovenian and European Subpopulations
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Comparison of SNP Genotypes Related to Proliferative Vitreoretinopathy (PVR) across Slovenian and European Subpopulations

机译：斯洛文尼亚和欧洲亚人群与增殖性玻璃体视网膜病变（PVR）相关的SNP基因型的比较

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The present study investigated the distribution of genotypes within single nucleotide polymorphisms (SNPs) in genes, related to PVR pathogenesis across European subpopulations. Genotype distributions of 42 SNPs among 96 Slovenian healthy controls were investigated and compared to genotype frequencies in 503 European individuals (Ensembl database) and their subpopulations. Furthermore, a case-control status was simulated to evaluate effects of allele frequency changes on statistically significant results in gene-association studies investigating functional polymorphisms. In addition, 96 healthy controls were investigated within 4 SNPs rs17561 (IL1A), rs2069763 (IL2), rs2229094 (LTA), and rs1800629 (TNF) in comparison to PVR patients. Significant differences () in distribution of genotypes among 96 Slovenian participants and a European population were found in 10 SNPs rs3024498 (IL10), rs315952 (IL1RN), rs2256965 (LST1), rs2256974 (LST1), rs909253 (LTA), rs2857602 (LTA), rs3138045 (NFKB1A), rs3138056 (NFKB1A), rs7656613 (PDGFRA), and rs1891467 (TGFB2), which additionally showed significant differences in genotype distribution among European subpopulations. This analysis also showed statistically significant differences in genotype distributions between healthy controls and PVR patients in rs17561 of the IL1A gene (OR, 3.00; 95% CI, 0.77–11.75; ) and in rs1800629 of the TNF gene (OR, 0.48; 95% CI, 0.27–0.87; ). Furthermore, we have shown that a small change (0.02) in minor allele frequency (MAF) significantly affects the statistical value in case-control studies. In conclusion, the study showed differences in genotype distributions in healthy populations across different European countries. Differences in distribution of genotypes may have had influenced failed replication results in previous PVR-related SNP-association studies.
机译：本研究调查了基因型在单核苷酸多态性（SNPs）的基因中的分布，其与欧洲亚群中PVR的发病机理有关。调查了96个斯洛文尼亚健康对照者中42个SNP的基因型分布，并与503个欧洲个体（Ensembl数据库）及其亚群的基因型频率进行了比较。此外，在控制功能多态性的基因关联研究中，模拟了病例对照状态以评估等位基因频率变化对统计学显着性结果的影响。此外，与PVR患者相比，在4个SNP rs17561（IL1A），rs2069763（IL2），rs2229094（LTA）和rs1800629（TNF）中研究了96位健康对照。在10个SNP rs3024498（IL10），rs315952（IL1RN），rs2256965（LST1），rs2256974（LST1），rs909253（LTA），rs2857602（LTA）中发现了96个斯洛文尼亚参与者和欧洲人群中基因型分布的显着差异（）。 ，rs3138045（NFKB1A），rs3138056（NFKB1A），rs7656613（PDGFRA）和rs1891467（TGFB2），它们在欧洲亚人群之间的基因型分布也存在显着差异。该分析还显示，健康对照和PVR患者在IL1A基因的rs17561（OR，3.00; 95％CI，0.77-11.75;）和TNF基因的rs1800629（OR，0.48; 95％）之间的基因型分布有统计学意义的差异。 CI，0.27–0.87;）。此外，我们已经表明，次要等位基因频率（MAF）的微小变化（0.02）会显着影响病例对照研究的统计值。总之，该研究表明欧洲不同国家健康人群的基因型分布存在差异。基因型分布的差异可能已经影响了先前PVR相关的SNP关联研究中复制失败的结果。

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