The Associations between TAS2R16 Gene Polymorphisms and Early Age - Related Macular Degeneration

Abstract

Abstract. Age-related macular degeneration (AMD), the most common cause of visual impairment in developed countries, is incurable [1]. AMD is the leading cause of registered blindness in people over the age of 50 years in the western world [2]. The disease damages photoreceptors, retinal pigment epithelium, and neurovascular complex. There is an early and late stage of AMD. In the early stage, there is the formation of large drusen and pigmentary abnormalities [3]. AMD is considered a multifactorial disease, with genetic, environmental, lifestyle, and other factors influencing its occurrence. TAS2R16 is a protein-coding gene that binds to the G protein-coupled receptor family located on the taste receptor cells of the tongue and palate epithelium. TAS2R16 gene polymorphisms rs860170, rs978739, and rs1357949 are significantly related to longevity [4]. Although a variety of factors influence AMD, the present study focuses on the association of polymorphisms in the TAS2R16 gene with the occurrence of AMD. Aim. To determine the associations between TAS2R16 gene polymorphisms and early AMD. Materials and Methods. The study enrolled 100 patients with early-AMD and 112 healthy subjects. Samples of DNA from peripheral blood leukocytes were purified by DNA salting-out method. Single nucleotide polymorphisms (rs860170, rs978739, rs1357949) were carried out using real-time polymerase chain reaction. The results were assessed using the statistical analysis method of ‘‘IBM SPSS Statistics 27.0“. Results. Analysis of TAS2R16 gene rs978739, and rs1357949 polymorphisms did not reveal any differences in genotype distribution between the patients with early-AMD and the reference group (p=>0.05). The TAS2R16 rs860170 C/T genotype was more frequent in females of AMD group compared to control group: 62.5% vs. 61.2%, p=0.019. Conclusions. TAS2R16 rs860170 gene polymorphism is associated with early AMD.