Zazeckyte Guoda, Gedvilaite Greta, Vilkeviciute Alvita, Kriauciuniene Loresa, Balciuniene Vilma Jurate, Mockute Ruta, Liutkeviciene Rasa
Medical Academy, Lithuanian University of Health Sciences, Eiveniu Str. 2, LT-50161 Kaunas, Lithuania.
Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Eiveniu Str. 2, LT-50161 Kaunas, Lithuania.
Life (Basel). 2022 Jun 21;12(7):928. doi: 10.3390/life12070928.
Age-related macular degeneration (AMD) is a neurodegenerative disease leading to irreversible central vision loss among the elderly in developed countries. While the disease accounts for 9% of all cases of vision loss, the prevalence of AMD is likely to increase due to the exponential aging of the population. Due to this reason, our study aimed to determine the associations of tumor necrosis factor-alpha (TNF-α) gene single-nucleotide polymorphisms (SNPs) TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-α serum concentration with age-related macular degeneration. Analysis of TNF-α rs1800630, rs1800629, and rs361525 polymorphisms showed that the TNF-α rs1800630 A allele was statistically significantly more frequent in the exudative AMD group compared to the control group (p = 0.029). Additionally, the TNF-α rs1800630 A allele was more frequent in females with exudative AMD than in the control group of healthy females (p = 0.027). The TNF-α rs1800630 A allele was more frequent in females with exudative AMD than in females with early AMD (p = 0.014). TNF-α rs1800630, rs1800629, and rs361525 haplotype A-A-G were associated with decreased odds of exudative AMD (p < 0.0001), and haplotype A-G-G was associated with 24-fold increased exudative AMD occurrence (p < 0.0001). TNF-α protein levels were lower in subjects with exudative AMD compared to the control group (p < 0.001). The study showed significant associations between inflammatory cytokine TNF-α single-nucleotide polymorphisms and serum level with AMD pathogenesis. Analysis of TNF-α genotypes and serum concentration may be helpful for the AMD diagnosis.
年龄相关性黄斑变性（AMD）是一种神经退行性疾病，在发达国家的老年人中会导致不可逆的中心视力丧失。虽然该疾病占所有视力丧失病例的9%，但由于人口的指数级老龄化，AMD的患病率可能会增加。因此，我们的研究旨在确定肿瘤坏死因子-α（TNF-α）基因单核苷酸多态性（SNP）TNF-863A/C（rs1800630）、TNF-308A/G（rs1800629）、TNF-238A/G（rs361525）以及TNF-α血清浓度与年龄相关性黄斑变性之间的关联。对TNF-α rs1800630 rs18006进行分析。
