The gene structure of ARMS2/LOC387715 and its expression in human eyes
Detailed Non-Technical Summary
The chromosomal ARMS2 (LOC387715)/HTRA1 locus in the 10q26.13 region has been consistently associated with AMD. These researchers believe that expression changes of ARMS2 coupled with its genetic variation (rs10490924) may be a mechanism for human AMD development. This study will determine all the possible but unknown native exons of ARMS2; determine all the full-length transcribed mRNA(s) and the gene structure of ARMS2; and determine whether there are differences in ARMS2 expression in human eye tissues between non-AMD and AMD eyes and between different rs10490924 genotypes. The results will advance understanding of ARMS2 native gene structure, transcription profiles and expression changes between non-AMD and AMD or different genotypes. The results should also help determine the normal function(s) of ARMS2 and the pathobiological mechanisms of chromosomal ARMS2/HTRA1 locus in AMD development.