The Gene Structure of ARMS2/LOC387715 and Its Expression in Human Eyes

This study will examine a region of chromosome 10 that has been linked to AMD. It seeks to identify all genes located in this region and determine whether they are differentially expressed when AMD and non-AMD eyes are compared.

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 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 the chromosomal ARMS2/HTRA1 locus in AMD development.