The hypothetical molecular mechanism of the ethnic variations in the manifestation of age-related macular degeneration; focuses on the functions of the most significant susceptibility genes

Honda, Shigeru; Misawa, Norihiko; Sato, Yusuke; Oikawa, Daisuke; Tokunaga, Fuminori

doi:10.1007/s00417-024-06442-9

Cited by 1 publication

(3 citation statements)

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“…It is clear that AMD is not a monogenic hereditary disease. However, it is considered to have genetic factors because of the differences in prevalence rate and characteristics among the genetic backgrounds [26]. First, AMD is more common in Caucasian people compared to Asian, Hispanic, or Black populations [1].…”

Section: Risk Factors Of Amd and Drusenmentioning

confidence: 99%

“…CFH (complement factor H), ARMS2, and HTRA1 are well-known genes that are strongly associated with the development and progression of AMD [27,28]. Minor allele frequencies, such as CFH and HTRA1, vary among races, which may be the main cause of ethnic differences in AMD expression [26]. Particularly, a common variant in CFH increased by 7.4-fold the risk of developing AMD in individuals homozygous for this allele.…”

Section: Risk Factors Of Amd and Drusenmentioning

confidence: 99%

“…In addition to CFH, ARMS2, and HTRA1, other genes involved in lipid metabolism, especially the high-density lipoprotein cholesterol (HDL-C) pathway, ABCA1, LIPC, CETP, and LPL, have been found to be involved in the development and progression of AMD [34,35]. It has been reported that adrenomedullin and C3b share a binding site for CFH, which has a dual effect on both molecules and is likely to cause either neovascular AMD or choroidal disease [26]. Based on the fact that drusen consist of lipids, such as oxidized cholesterol, in addition to these variants of cholesterol pathway-associated genes, our research has been focused on the hypothesis that disrupted cholesterol metabolism in the retinal tissue causes AMD.…”

Section: Risk Factors Of Amd and Drusenmentioning

confidence: 99%

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Drusen in AMD from the Perspective of Cholesterol Metabolism and Hypoxic Response

Ban,

Shinojima,

Negishi

et al. 2024

JCM

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Drusen are one of the most characteristic pathologies of precursor lesion of age-related macular degeneration (AMD). Drusen comprise a yellowish white substance that accumulates typically under the retinal pigment epithelium (RPE), and their constituents are lipids, complement, amyloid, crystallin, and others. In the past, many researchers have focused on drusen and tried to elucidate the pathophysiology of AMD because they believed that disease progression from early AMD to advanced AMD might be based on drusen or drusen might cause AMD. In fact, it is well established that drusen are the hallmark of precursor lesion of AMD and a major risk factor for AMD progression mainly based on their size and number. However, the existence of advanced AMD without drusen has long been recognized. For example, polypoidal choroidal vasculopathy (PCV), which comprises the majority of AMD cases in Asians, often lacks drusen. Thus, there is the possibility that drusen might be no more than a biomarker of AMD and not a cause of AMD. Now is the time to reconsider the relationship between AMD and drusen. In this review, we focus on early AMD pathogenesis based on basic research from the perspective of cholesterol metabolism and hypoxic response in the retina, and we discuss the role of drusen.

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Section: Risk Factors Of Amd and Drusenmentioning

confidence: 99%