Role of CFH and ARMS2 polymorphisms in retinopathy and coronary artery disease in type 1 diabetes

Toni, M.; Hermida, J; Toledo, E; Goñi, M J; Goñi, N Díez

doi:10.23938/assn.0098

Cited by 5 publications

(3 citation statements)

References 6 publications

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“…Apolipoproteins have been reported involving with the pathology of PDR [ 34 , 35 ], here we identified a total of 6 apolipoproteins, 5 were the first time to be found related to PDR while the remaining one, apolipoprotein A-IV (APOA4) was found reduced in the PDR patients compared with the macular hole patients [ 36 ] which had conflicts with our result. Besides, several researches related to PDR have been carried out on vision related proteins, such as CA1 [ 37 ], CAT [ 38 ], CFH [ 39 ], PON1 [ 40 ] and VTN [ 41 ]. However, no researches have been conducted on APOF, COL1A1, C2, C4BPA, CFD and CFHR3, FGA.…”

Section: Discussionmentioning

confidence: 99%

Quantitative proteomics analysis of vitreous body from type 2 diabetic patients with proliferative diabetic retinopathy

2018

BMC Ophthalmol

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BackgroundTo compare the abundance of vitreous proteins between the patients with proliferative diabetic retinopathy (PDR) and idiopathic macular hole (IMH).MethodsIn this study, we performed mass spectrometry-based label-free quantitative proteomics analysis of vitreous samples from type 2 diabetic patients with PDR (n = 9) and IMH subjects (n = 9) and identified the abundance of 610 proteins.ResultsOut of 610 proteins, 64 proteins (Group A) were unique to PDR patients, while 212 proteins (Group B) could be identified in IMH vitreous only. Among the other 334 proteins that could be detected in both PDR and IMH eyes, 62 proteins differed significantly (p < 0.05, fold change > 2), which included 52 proteins (Group C) and 10 proteins (Group D) over- and under-expressed in PDR vitreous compared with the control. All proteins in these four groups were counted as significant proteins in our study.ConclusionsWe identified and quantified 610 proteins in total, which included 338 significant proteins in our study. Protein distribution analysis demonstrated a clear separation of protein expression in PDR and IMH. The protein function analysis illustrated that immunity and transport related proteins might be associated with PDR.

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Section: Discussionmentioning

confidence: 99%

Quantitative proteomics analysis of vitreous body from type 2 diabetic patients with proliferative diabetic retinopathy

2018

BMC Ophthalmol

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“… 61 In addition, the CFH rs1410996 polymorphism was not significantly associated with PDR in type 1 diabetes in a series of 147 Spanish patients. 62 …”

Section: Newer Candidate Genesmentioning

confidence: 99%

Update on genetics and diabetic retinopathy

Hampton

Schwartz

Brantley

et al. 2015

OPTH

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Clinical risk factors for diabetic retinopathy (DR), such as duration of disease and degree of glucose control, do not adequately predict disease progression in individual patients, suggesting the presence of a genetic component. Multiple smaller studies have investigated genotype–phenotype correlations in genes encoding vascular endothelial growth factor, aldose reductase, the receptor for advanced glycation end products, and many others. In general, reported results have been conflicting, due to factors including small sample sizes, variations in study design, differences in clinical end points, and underlying genetic differences between study groups. At this time, there is no confirmed association with any risk allele reported. As we continue to collect data from additional studies, the role of genetics in DR may become more apparent.

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“…The expression of CFH is upregulated in microglia in diabetic eyes, perhaps indicating a form of negative feedback in late-stage DR [ 4 ]. Furthermore, several polymorphisms of CFH, C5, and CFB have been associated with DR [ 78 , 79 , 80 ].…”

Section: Activation Of the Complement System In Retinal Diseasementioning

confidence: 99%

The Complement System as a Therapeutic Target in Retinal Disease

Ong,

Zarnegar,

Selvam

et al. 2024

Medicina

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The complement cascade is a vital system in the human body’s defense against pathogens. During the natural aging process, it has been observed that this system is imperative for ensuring the integrity and homeostasis of the retina. While this system is critical for proper host defense and retinal integrity, it has also been found that dysregulation of this system may lead to certain retinal pathologies, including geographic atrophy and diabetic retinopathy. Targeting components of the complement system for retinal diseases has been an area of interest, and in vivo, ex vivo, and clinical trials have been conducted in this area. Following clinical trials, medications targeting the complement system for retinal disease have also become available. In this manuscript, we discuss the pathophysiology of complement dysfunction in the retina and specific pathologies. We then describe the results of cellular, animal, and clinical studies targeting the complement system for retinal diseases. We then provide an overview of complement inhibitors that have been approved by the Food and Drug Administration (FDA) for geographic atrophy. The complement system in retinal diseases continues to serve as an emerging therapeutic target, and further research in this field will provide additional insights into the mechanisms and considerations for treatment of retinal pathologies.

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Role of CFH and ARMS2 polymorphisms in retinopathy and coronary artery disease in type 1 diabetes

Abstract: rs1410996 CFH polymorphism could be associated with both proliferative diabetic retinopathy and coronary artery disease in type 1 diabetes patients. However, rs10490924 ARMS2 does not seem to be associated either with retinopathy or coronary artery disease.

Cited by 5 publications

References 6 publications

Quantitative proteomics analysis of vitreous body from type 2 diabetic patients with proliferative diabetic retinopathy

Quantitative proteomics analysis of vitreous body from type 2 diabetic patients with proliferative diabetic retinopathy

Update on genetics and diabetic retinopathy

The Complement System as a Therapeutic Target in Retinal Disease

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