[HTML][HTML] Binding of Gtf2i-β/δ transcription factors to the ARMS2 gene leads to increased circulating HTRA1 in AMD patients and in vitro

Y Pan, D Iejima, M Nakayama, A Suga, T Noda… - Journal of Biological …, 2021 - ASBMB
The disease-initiating molecular events for age-related macular degeneration (AMD), a
multifactorial retinal disease affecting many millions of elderly individuals worldwide, are still
unknown. Of the over 30 risk and protective loci so far associated with AMD through whole
genome-wide association studies (GWAS), the Age-Related Maculopathy Susceptibility 2
(ARMS2) gene locus represents one of the most highly associated risk regions for AMD. A
unique insertion/deletion (in/del) sequence located immediately upstream of the High …