rs10490924 surrounding <i>HTRA1/ARMS2</i> regulates the susceptibility of age-related macular degeneration

Tang, Manhan; Li, Aiyu; Wu, Mingxing; Xu, Chen; Xiong, Xiaojing; Zhou, Zixi; Liu, Danning

doi:10.1080/10799893.2020.1805625

Cited by 2 publications

(1 citation statement)

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“…The rs1061170 variant of the complement factor H (CFH) gene increases the incidence of early AMD and eventual progression to late stage AMD [ 14 ]. Similarly, the rs10490924 variant located near the age-related maculopathy susceptibility 2 (ARMS2) and high-temperature requirement A serine peptidase 1 (HTRA1) genes are strongly attributed to elevated risk for AMD and disease progression [ 29 , 30 ].…”

Section: Risk Factorsmentioning

confidence: 99%

Targeting the Complement Cascade for Treatment of Dry Age-Related Macular Degeneration

Patel

Land

et al. 2022

Biomedicines

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Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss in the elderly population. AMD is characterized in its late form by neovascularization (wet type) or geographic atrophy of the retinal pigment epithelium cell layer (dry type). Regarding the latter type, there is growing evidence supporting an association between the pathophysiology of dry AMD and key proteins in the complement cascade. The complement cascade works as a central part of the innate immune system by defending against foreign pathogens and modified self-tissues. Through three distinct pathways, a series of plasma and membrane-associated serum proteins are activated upon identification of a foreign entity. Several of these proteins have been implicated in the development and progression of dry AMD. Potential therapeutic targets include C1q, C3, C5, complement factors (B, D, H, I), membrane attack complex, and properdin. In this review, we provide an understanding of the role of the complement system in dry AMD and discuss the emerging therapies in early phase clinical trials. The tentative hope is that these drugs may offer the potential to intervene at earlier stages in dry AMD pathogenesis, thereby preventing progression to late disease.

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Section: Risk Factorsmentioning

confidence: 99%