Association of high-density lipoprotein and apolipoprotein E genetic variants with age-related macular degeneration

Cezario, Sabrina Mayara; Calastri, Maria Clara Jessica; Oliveira, Camila Ive Ferreira; Carmo, Tayanne Silva; Pinhel, Marcela Augusta de Souza; Godoy, Moacir Fernandes de; Jorge, Rodrigo; Cotrim, Carina Costa; Souza, Dorotéia Rossi Silva; Siqueira, Rubens Camargo

doi:10.5935/0004-2749.20150023

Cited by 7 publications

(4 citation statements)

References 26 publications

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“…The available literature generally presents an inverse relationship between HDL-C levels and DR, albeit with varying statistical significance [126][127][128][129][130][131][132][133][134][135][136][137][138][139] (Table 5). Hence, serum HDL-C could potentially be a modifiable risk factor of DR, although more evidence is needed to support this.…”

Section: The Relationship Between Hdl-c and Drmentioning

confidence: 99%

High-Density Lipoprotein Cholesterol in Age-Related Ocular Diseases

et al. 2020

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There is limited understanding of the specific role of high-density lipoprotein cholesterol (HDL-C) in the development of various age-related ocular diseases, despite it being a common measurable biomarker in lipid profiles. This literature review summarizes current knowledge of the role of HDL-C, if any, in pathogenesis and progression of four age-related ocular diseases, namely age-related macular degeneration (AMD), age-related cataract, glaucoma, and diabetic retinopathy (DR), and will primarily discuss epidemiological and genetic evidence.

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Section: The Relationship Between Hdl-c and Drmentioning

confidence: 99%

High-Density Lipoprotein Cholesterol in Age-Related Ocular Diseases

et al. 2020

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“…It is known that changes in the metabolism of cholesterol, particularly of HDL, may influence drusen accumulation and consequently promote AMD development [ 17 ]. Cholesterol can be obtained from systemic sources or recycled in the retina, through the circulation of blood lipids.…”

Section: Discussionmentioning

confidence: 99%

CYP4F2 (rs2108622) Gene Polymorphism Association with Age-Related Macular Degeneration

Šakienė

Vilkeviciute

Kriauciuniene

et al. 2016

Advances in Medicine

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Background. Age-related macular degeneration is the leading cause of blindness in elderly individuals where aetiology and pathophysiology of age-related macular degeneration are not absolutely clear. Purpose. To determine the frequency of the genotype of rs2108622 in patients with early and exudative age-related macular degeneration. Methods. The study enrolled 190 patients with early age-related macular degeneration, 181 patients with exudative age-related macular degeneration (eAMD), and a random sample of 210 subjects from the general population (control group). The genotyping of rs2108622 was carried out using the real-time polymerase chain reaction method. Results. The analysis of rs2108622 gene polymorphism did not reveal any differences in the distribution of C/C, C/T, and T/T genotypes between the early AMD group, the eAMD group, and the control group. The CYP4F2 (1347C>T) T/T genotype was more frequent in males with eAMD compared to females (10.2% versus 0.8%; p = 0.0052); also T/T genotype was less frequently present in eAMD females compared to healthy control females (0.8% versus 6.2%; p = 0.027). Conclusion. Rs2108622 gene polymorphism had no predominant effect on the development of early AMD and eAMD. The T/T genotype was more frequent in males with eAMD compared to females and less frequently present in eAMD females compared to healthy females.

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“…In AD, ApoE4 is of the strongest genetic factors associated with disease risk, while ApoE2 is protective. Surprisingly, in AMD the opposite is true with ApoE2 being associated with increased risk of AMD and ApoE4 serving a protective role ( 63 ). All 3 ApoE variants can be found in the RPE and Bruch’s membrane, but while ApoE4 is protective and correlates to decreased inflammation and macrophage recruitment, ApoE2 results in increased macrophage infiltration and inflammation ( 64 ).…”

Section: Genetic Variants Associated With Amdmentioning

confidence: 99%

Oxidative stress, innate immunity, and age-related macular degeneration

Shaw

Stiles

Douglas

et al. 2016

AIMS Molecular Science

142

110

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Age-related macular degeneration (AMD) is a leading cause of vision loss affecting tens of millions of elderly worldwide. Early AMD is characterized by the appearance of soft drusen, as well as pigmentary changes in the retinal pigment epithelium (RPE). These soft, confluent drusen can progress into two forms of advanced AMD: geographic atrophy (GA, or dry AMD) or choroidal neovascularization (CNV, or wet AMD). Both forms of AMD result in a similar clinical progression in terms of loss of central vision. The exact mechanism for developing early AMD, as well as triggers responsible for progressing to advanced stage of disease, is still largely unknown. However, significant evidence exists demonstrating a complex interplay of genetic and environmental factors as causes of AMD progression. Multiple genes and/or single nucleotide polymorphisms (SNPs) have been found associated with AMD, including various genes involved in the complement pathway, lipid metabolism and extracellular matrix (ECM) remodeling. Of the known genetic contributors to disease risk, the CFH Y402H and HTRA1/ARMS polymorphisms contribute to more than 50% of the genetic risk for AMD. Environmentally, oxidative stress plays a critical role in many aging diseases including cardiovascular disease, cancer, Alzheimer’s disease and AMD. Due to the exposure to sunlight and high oxygen concentration, the oxidative stress burden is higher in the eye than other tissues, which can be further complicated by additional oxidative stressors such as smoking. Increasingly, evidence is accumulating suggesting that functional abnormalities of the innate immune system incurred via high risk genotypes may be contributing to the pathogenesis of AMD by altering the inflammatory homeostasis in the eye, specifically in the handling of oxidation products. As the eye in non-pathological instances maintains a low level of inflammation despite the presence of a relative abundance of potentially inflammatory molecules, we have previously hypothesized that the tight homeostatic control of inflammation via the innate immune system is likely critical for avoidance of disease progression. However, the presence of a multitude of potential triggers of inflammation results in a sensitive balance in which perturbations thereof would subsequently alter the inflammatory state of the retina, leading to a state of chronic inflammation and pathologic progression. In this review, we will highlight the background literature surrounding the known genetic and environmental contributors to AMD risk, as well as a discussion of the potential mechanistic interplay of these factors that lead to disease pathogenesis with particular emphasis on the delicate control of inflammatory homeostasis and the centrality of the innate immune system in this process.

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Association of high-density lipoprotein and apolipoprotein E genetic variants with age-related macular degeneration

Cited by 7 publications

References 26 publications

High-Density Lipoprotein Cholesterol in Age-Related Ocular Diseases

High-Density Lipoprotein Cholesterol in Age-Related Ocular Diseases

CYP4F2 (rs2108622) Gene Polymorphism Association with Age-Related Macular Degeneration

Oxidative stress, innate immunity, and age-related macular degeneration

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