MMP20 and ARMS2/HTRA1 Are Associated with Neovascular Lesion Size in Age-Related Macular Degeneration

Ophthalmology
Yumiko Akagi-KurashigeNagahama Cohort Research Group

Abstract

Age-related macular degeneration (AMD) is the leading cause of severe visual impairment. Despite treatment, a central scotoma often remains. The size of the scotoma depends on the lesion size of the choroidal neovascular membrane and significantly affects the patient's quality of life, and the lesion size of neovascularization also affects response to treatments. The aim of this study was to identify genes associated with the neovascular lesion size in neovascular AMD. A genome-wide association study (GWAS). We included 1146 Japanese patients with neovascular AMD. We performed a 2-stage GWAS for the lesion size of AMD as a quantitative trait among 1146 (first stage: 727, second stage: 419) Japanese patients with neovascular AMD. Lesion size was determined by the greatest linear dimension measured with fluorescein angiography examination before treatment. We examined the association between the genotypic distribution of each single nucleotide polymorphism (SNP) and the trait using an additive model adjusted for age and sex. To evaluate the associations between AMD development and SNPs associated with lesion size, we also performed a case-control study by using the genotype data from these 1146 Japanese patients as case subjects ...Continue Reading

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Citations

May 14, 2016·Medicina·Olga SergejevaLoresa Kriaučiūnienė
May 10, 2016·Progress in Retinal and Eye Research·Nathan G LambertBalamurali K Ambati
Aug 5, 2016·Asia-Pacific Journal of Ophthalmology·Govindasamy Kumaramanickavel
Sep 27, 2016·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Kalu U E OgburekeGeetu Saxena
Sep 20, 2017·Nature Communications·Xiao ChangHakon Hakonarson
Aug 23, 2020·International Journal of Molecular Sciences·Luis García-OnrubiaSalvador Pastor-Idoate
Aug 31, 2020·Ophthalmology·Shin-Ya NakaoUNKNOWN of the Nagahama Study Group

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