title: A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population.
abstract: Age-related macular degeneration (AMD) is one of the leading causes of blindness among older adults in developed countries and also in Japan. Previous research suggests that AMD is etiologically a complex disease, caused by multiple genes and environmental factors. Association studies have identified that a complement factor H gene (CFH) variant is a major risk factor for AMD in Caucasians. However, we and two other groups have reported no association between CFH and AMD in the Japanese population. Recent studies have suggested that LOC387715 on chromosome 10q26 may be the second major risk loci for AMD in Caucasians. In this study, we examined the association between LOC387715 and AMD in Japanese, and our results show that polymorphism of the LOC387715 gene is associated with AMD in Japanese as well as in Caucasians. Our data show a disease odds ratio of 6.20 (95% CI: 2.87-13.40) conferred by homozygosity for risk alleles at LOC387715 compared with the non-risk genotype. A polymorphism of LOC387715 gene is associated with AMD in the Japanese population.
authors.affiliation: Department of Ophthalmology and Visual Science, Graduate School of Biomedical Sciences, Hiroshima University, Japan. stanimo@hiroshima-u.ac.jp
authors.forename: Seiji
authors.initials: S
authors.lastname: Tanimoto
authors.forename: Hiroki
authors.initials: H
authors.lastname: Tamura
authors.forename: Takahiro
authors.initials: T
authors.lastname: Ue
authors.forename: Ken
authors.initials: K
authors.lastname: Yamane
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Maruyama
authors.forename: Hideshi
authors.initials: H
authors.lastname: Kawakami
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Kiuchi
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008268:Macular Degeneration / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C514392:ARMS2 protein, human; D005819:Genetic Markers; D011506:Proteins; D017242:Complement Factor H