Kaikaryte Kriste, Gedvilaite Greta, Vilkeviciute Alvita, Kriauciuniene Loresa, Mockute Ruta, Cebatoriene Dzastina, Zemaitiene Reda, Balciuniene Vilma Jurate, Liutkeviciene Rasa
Laboratory of Ophthalmology, Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Eiveniu 2, LT-50161 Kaunas, Lithuania.
Department of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, Eiveniu 2 Str., LT-50161 Kaunas, Lithuania.
Life (Basel). 2022 May 19;12(5):753. doi: 10.3390/life12050753.
The aim of this paper was to determine the frequency of rs3818292, rs3758391, rs7895833 single nucleotide polymorphism genotypes and SIRT1 serum levels associated with age-related macular degeneration (AMD) in the Lithuanian population. Genotyping of rs3818292, rs3758391 and rs7895833 was performed using RT-PCR. SIRT1 serum level was determined using the ELISA method. We found that rs3818292 and rs7895833 were associated with an increased risk of developing exudative AMD. Additional sex-differentiated analysis revealed only rs7895833 was associated with an increased risk of developing exudative AMD in women after strict Bonferroni correction. The analysis also revealed that individuals carrying rs3818292, rs3758391 and rs7895833 haplotype G-T-G are associated with increased odds of exudative AMD. Still, the rare haplotypes were associated with the decreased odds of exudative AMD. After performing an analysis of serum SIRT1 levels and genetic variant, we found that carriers of the rs3818292 minor allele G had higher serum SIRT1 levels than the AA genotype. In addition, individuals carrying at least one rs3758391 T allele also had elevated serum SIRT1 levels compared with individuals with the wild-type CC genotype. Our study showed that the polymorphisms rs3818292 and rs7895833 and rs3818292-rs3758391-rs7895833 haplotype G-T-G could be associated with the development of exudative AMD. Also, two SNPs (rs3818292 and rs3758391) are associated with elevated SIRT1 levels.
本文的目的是确定立陶宛人群中与年龄相关性黄斑变性（AMD）相关的rs3818292、rs3758391、rs7895833单核苷酸多态性基因型的频率以及SIRT1血清水平。使用RT-PCR对rs3818292、rs3758391和rs7895833进行基因分型。使用ELISA方法测定SIRT1血清水平。我们发现rs3818292和rs7895833与渗出性AMD发生风险增加相关。进一步的性别差异分析显示，经过严格的Bonferroni校正后，仅rs7895833与女性渗出性AMD发生风险增加相关。分析还显示，携带rs3818292、rs3758391和rs7895833单倍型G-T-G的个体渗出性AMD的发生几率增加。然而，罕见单倍型与渗出性AMD的发生几率降低相关。在对血清SIRT1水平和基因变异进行分析后，我们发现rs3818292次要等位基因G的携带者血清SIRT1水平高于AA基因型。此外，与野生型CC基因型个体相比，携带至少一个rs3758391 T等位基因的个体血清SIRT1水平也升高。我们的研究表明，多态性rs3818292和rs7895833以及rs3818292-rs3758391-rs7895833单倍型G-T-G可能与渗出性AMD的发生相关。此外，两个单核苷酸多态性（rs3818292和rs3758391）与SIRT1水平升高相关。
