Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Neuroscience Institute, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Ophthalmic Genet. 2024 Feb;45(1):28-37. doi: 10.1080/13816810.2023.2291681. Epub 2024 Jan 26.
The aim of this study is to determine the association of (rs860170, rs978739, rs1357949) gene polymorphisms and TAS2R16 serum levels in patients with the occurrence of age-related macular degeneration (AMD).
Subjects with early AMD, subjects with exudative AMD, and healthy controls participated in the study. DNA was isolated by salting out leukocytes from peripheral venous blood. Single nucleotide polymorphisms (SNPs) were analysed by RT-PCR. TAS2R16 levels were determined by enzyme-linked immunosorbent assay (ELISA) using the Abbexa Human Taste Receptor Type 2 Member 16 (TAS2R16) ELISA kit. Statistical data analysis was performed using "IBM SPSS Statistics 27.0" and SNPstats statistical data analysis programmes.
The TAS2R16 rs860170 TT genotype is statistically significantly less frequent in the exudative AMD group than in the control group, whereas the TAS2R16 rs860170 C allele gene is statistically significantly more frequent in the exudative AMD group. Each C allele of TAS2R16 rs860170 is associated with a 2.8-fold increased probability of occurrence of exudative AMD. The C allele of TAS2R16 rs860170 is statistically significantly more frequent in men and women with exudative AMD than in the control group. The C allele of TAS2R16 rs860170 is associated with a 2.8-fold increased odds of occurrence of exudative AMD in women and a 2.9-fold increased odds of occurrence of exudative AMD in men. In TAS2R16 (rs860170, rs978739, and rs1357949), the T-T-A haplotype is associated with a 2.6-fold decreased likelihood of developing early AMD and the T-T-A haplotype is associated with a 3.2-fold decreased likelihood of developing early AMD in women. For TAS2R16 (rs860170, rs978739, and rs1357949), carriers of the T-T-G and T-T-A haplotypes are associated with a 2.2- and 3.2-fold decreased probability of exudative AMD, respectively. Individuals with the C-C-A haplotype are 9.2-fold more likely to develop exudative AMD. Specifically, the C-C-A haplotype is associated with a 9.3-fold increased likelihood of exudative AMD in men. In contrast, women with the T-T-A haplotype are 5.6-fold less likely to develop exudative AMD.
TAS2R16 plays an important role in the development of AMD.
本研究旨在探讨 (rs860170、rs978739、rs1357949) 基因多态性与 TAS2R16 血清水平与年龄相关性黄斑变性（AMD）发生的关系。
本研究纳入了早期 AMD 患者、渗出性 AMD 患者和健康对照者。通过盐析法从外周静脉血白细胞中提取 DNA。采用 RT-PCR 分析单核苷酸多态性（SNP）。采用 Abbexa 人类味觉受体 2 成员 16（TAS2R16）ELISA 试剂盒通过酶联免疫吸附试验（ELISA）测定 TAS2R16 水平。使用“IBM SPSS Statistics 27.0”和 SNPstats 统计数据分析程序进行统计数据分析。
与对照组相比，渗出性 AMD 组 TAS2R16 rs860170 TT 基因型明显较少，而 TAS2R16 rs860170 C 等位基因在渗出性 AMD 组中明显较多。TAS2R16 rs860170 的每个 C 等位基因与渗出性 AMD 发生的概率增加 2.8 倍相关。TAS2R16 rs860170 的 C 等位基因在渗出性 AMD 男性和女性中明显多于对照组。TAS2R16 rs860170 的 C 等位基因与女性渗出性 AMD 发生的概率增加 2.8 倍相关，与男性渗出性 AMD 发生的概率增加 2.9 倍相关。在 TAS2R16（rs860170、rs978739 和 rs1357949）中，T-T-A 单倍型与发生早期 AMD 的可能性降低 2.6 倍相关，并且 T-T-A 单倍型与女性发生早期 AMD 的可能性降低 3.2 倍相关。对于 TAS2R16（rs860170、rs978739 和 rs1357949），T-T-G 和 T-T-A 单倍型携带者与发生渗出性 AMD 的概率分别降低 2.2 倍和 3.2 倍相关。携带 T-T-G 和 T-T-A 单倍型的个体发生渗出性 AMD 的概率分别降低 2.2 倍和 3.2 倍。具有 C-C-A 单倍型的个体发生渗出性 AMD 的可能性增加 9.2 倍。具体而言，C-C-A 单倍型与男性渗出性 AMD 发生的可能性增加 9.3 倍相关。相反，携带 T-T-A 单倍型的女性发生渗出性 AMD 的可能性降低 5.6 倍。
TAS2R16 在 AMD 的发生发展中起重要作用。
