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4 results on '"Hollander, AID"'

1. Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.

Author

Hosoda, Y, Miyake, M, Schellevis, RL, Boon, CJF, Hoyng, CB, Miki, A, Meguro, A, Sakurada, Y, Yoneyama, S, Takasago, Y, Hata, M, Muraoka, Y, Nakanishi, H, Oishi, A, Ooto, S, Tamura, H, Uji, A, Miyata, M, Takahashi, A, Ueda-Arakawa, N, Tajima, A, Sato, T, Mizuki, N, Shiragami, C, Iida, T, Khor, CC, Wong, TY, Yamada, R, Honda, S, de Jong, EK, Hollander, AID, Matsuda, F, Yamashiro, K, Tsujikawa, A, Hosoda, Y, Miyake, M, Schellevis, RL, Boon, CJF, Hoyng, CB, Miki, A, Meguro, A, Sakurada, Y, Yoneyama, S, Takasago, Y, Hata, M, Muraoka, Y, Nakanishi, H, Oishi, A, Ooto, S, Tamura, H, Uji, A, Miyata, M, Takahashi, A, Ueda-Arakawa, N, Tajima, A, Sato, T, Mizuki, N, Shiragami, C, Iida, T, Khor, CC, Wong, TY, Yamada, R, Honda, S, de Jong, EK, Hollander, AID, Matsuda, F, Yamashiro, K, and Tsujikawa, A

Abstract

The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13,029 controls, identified two novel CSC susceptibility loci: TNFRSF10A-LOC389641 and near GATA5 (rs13278062, odds ratio = 1.35, P = 1.26 × 10-13; rs6061548, odds ratio = 1.63, P = 5.36 × 10-15). A T allele at TNFRSF10A-LOC389641 rs13278062, a risk allele for CSC, is known to be a risk allele for AMD. This study not only identified new susceptibility genes for CSC, but also improves the understanding of the pathogenesis of AMD.

Published
2019

3. The p53 Codon 72 PRO/PRO Genotype May Be Associated with Initial Central Visual Field Defects in Caucasians with Primary Open Angle Glaucoma

Author

Hollander, AID, Wiggs, JL, Hewitt, AW, Fan, BJ, Wang, DY, Sena, DRF, O'Brien, C, Realini, A, Craig, JE, Dimasi, DP, Mackey, DA, Haines, JL, Pasquale, LR, Hollander, AID, Wiggs, JL, Hewitt, AW, Fan, BJ, Wang, DY, Sena, DRF, O'Brien, C, Realini, A, Craig, JE, Dimasi, DP, Mackey, DA, Haines, JL, and Pasquale, LR

Abstract

BACKGROUND: Loss of vision in glaucoma is due to apoptotic retinal ganglion cell loss. While p53 modulates apoptosis, gene association studies between p53 variants and glaucoma have been inconsistent. In this study we evaluate the association between a p53 variant functionally known to influence apoptosis (codon 72 Pro/Arg) and the subset of primary open angle glaucoma (POAG) patients with early loss of central visual field. METHODS: Genotypes for the p53 codon 72 polymorphism (Pro/Arg) were obtained for 264 POAG patients and 400 controls from the U.S. and in replication studies for 308 POAG patients and 178 controls from Australia (GIST). The glaucoma patients were divided into two groups according to location of initial visual field defect (either paracentral or peripheral). All cases and controls were Caucasian with European ancestry. RESULTS: The p53-PRO/PRO genotype was more frequent in the U.S. POAG patients with early visual field defects in the paracentral regions compared with those in the peripheral regions or control group (p=2.7 × 10(-5)). We replicated this finding in the GIST cohort (p =7.3 × 10(-3), and in the pooled sample (p=6.6 × 10(-7)) and in a meta-analysis of both the US and GIST datasets (1.3 × 10(-6), OR 2.17 (1.58-2.98 for the PRO allele). CONCLUSIONS: These results suggest that the p53 codon 72 PRO/PRO genotype is potentially associated with early paracentral visual field defects in primary open-angle glaucoma patients.

Published
2012

4. Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.

Author

Hosoda Y, Miyake M, Schellevis RL, Boon CJF, Hoyng CB, Miki A, Meguro A, Sakurada Y, Yoneyama S, Takasago Y, Hata M, Muraoka Y, Nakanishi H, Oishi A, Ooto S, Tamura H, Uji A, Miyata M, Takahashi A, Ueda-Arakawa N, Tajima A, Sato T, Mizuki N, Shiragami C, Iida T, Khor CC, Wong TY, Yamada R, Honda S, de Jong EK, Hollander AID, Matsuda F, Yamashiro K, and Tsujikawa A

Subjects
Alleles, Case-Control Studies, Central Serous Chorioretinopathy epidemiology, Computational Biology methods, Databases, Genetic, Europe epidemiology, Female, Gene Expression, Humans, Male, Odds Ratio, Quantitative Trait Loci, Central Serous Chorioretinopathy genetics, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study
Abstract

The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13,029 controls, identified two novel CSC susceptibility loci: TNFRSF10A-LOC389641 and near GATA5 (rs13278062, odds ratio = 1.35, P  = 1.26 × 10 -13 ; rs6061548, odds ratio = 1.63, P  = 5.36 × 10 -15 ). A T allele at TNFRSF10A-LOC389641 rs13278062, a risk allele for CSC, is known to be a risk allele for AMD. This study not only identified new susceptibility genes for CSC, but also improves the understanding of the pathogenesis of AMD., Competing Interests: Competing interestsThe authors declare no competing interests., (© The Author(s) 2019.)

Published
2019
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