2011
ARMS2/HTRA1 Locus Can Confer Differential Susceptibility to the Advanced Subtypes of Age-Related Macular Degeneration
Abstract: Purpose To determine if genetic variants that have been associated with age-related macular degeneration (AMD) have a differential effect on the risk of choroidal neovascularization (CNV) and geographic atrophy. Design Genetic association study. Methods Setting Multicenter study. Study Population Seven hundred forty-nine participants with geographic atrophy and 3209 participants with CNV were derived from 4 AMD studies with similar procedures from Tufts Medical Center, the Age-Related Eye Disease Study,…
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Cited by 77 publications
(60 citation statements)
References 31 publications
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“…Association signals at CFH , C2 , CFB , C3 , CFI and ARMS2/HTRA1 were also significant for both GA and NV compared with controls. ARMS2/HTRA1 was more strongly related to NV compared with GA as previously reported ( 23 ).…”
Section: Resultssupporting
confidence: 86%
“…Association signals at CFH , C2 , CFB , C3 , CFI and ARMS2/HTRA1 were also significant for both GA and NV compared with controls. ARMS2/HTRA1 was more strongly related to NV compared with GA as previously reported ( 23 ).…”
Section: Resultssupporting
confidence: 86%
“…In contrast, this large GWAS meta-analysis did have sufficient power to firmly document our previous finding from a candidate gene case-control association study. In that prior study the locus had a moderate effect size with an OR of 1.37 which was quite consistent with the OR of 1.38 observed in this study, 23 suggesting about a 38% higher risk of developing CNV vs. GA with each T allele a participant harbors.…”
Section: Discussionsupporting
confidence: 87%
“…These sub-analyses of the full GWAS dataset did not uncover additional loci reaching p<5×10 −8 ; furthermore heterogeneity near CFH and ARMS2 remained significant in all sub-analyses (I 2 >65%, p <.001). Consistent with previous reports 17,29,30 , separate analysis of NV and GA cases showed ARMS2 risk alleles preferentially associated with risk of NV (OR NV =2.97, OR GA =2.50, p difference =.0008) whereas CFH risk alleles preferentially associated with risk of GA (OR NV =2.34, OR GA =2.80, p difference =.0006). We also observed large differences in effect sizes when stratifying by ethnicity, with variants near CFH exhibiting stronger evidence for association among Europeans (p=.0000001) and those near TNFRSF10A among East Asians (p=.002).…”
supporting
confidence: 91%
