2012 Fiscal Year Final Research Report

Characterization of HtrA1 Promoter in Patients with Exudative Age-Related Macular Degeneration.

Research Project

Project/Area Number	23890258
Research Category	Grant-in-Aid for Research Activity Start-up
Allocation Type	Single-year Grants
Research Field	Ophthalmology
Research Institution	独立行政法人国立病院機構東京医療センター臨床研究センター (2012) 独立行政法人国立病院機構(東京医療センター臨床研究センター) (2011)
Principal Investigator	IEJIMA Daisuke 独立行政法人国立病院機構東京医療センター臨床研究センター, 分子細胞生物学研究部, 研究員 (10617137)
Project Period (FY)	2011 – 2012
Keywords	加齢黄斑変性(AMD) / ARMS2 / HtrA1 / promoter
Research Abstract	Age-related macular degeneration (AMD) is a leading cause of vision loss and blindness in the elderly. The dry form is more common and accounts for about 85~90% of AMD patients in US, while Japanese AMD patients predominantly progress to wet-form or polypoidal choroidal vasculopathy (PCV). Recent studies have shown HtrA1, a serine protease gene, as major risk factor for wet form AMD (DeWan et al., Science, 2006). Furthermore, we reported that Japanese typical wet form AMD patients show significant association with ARMS2/HtrA1 (rs10490924: p=4.1x10-14, OR=4.16) (Goto, et al., JOBDI, 2009). The purpose of study is to characterize promoter function of ARMS2 and HtrA1 genes in wet-form AMD.