Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population

Gili, Pablo; Martín, Leyre Lloreda; Martín-Rodrigo, José-Carlos; Kim-Yeon, Naon; Modamio-Gardeta, Laura; Fernández-García, Javier L; Rebolledo-Poves, Ana Belen; Gómez-Blázquez, Elena; Pazos, M. Ruth; Pérez‐Fernández, Elia; Velasco, María

doi:10.1177/11206721211002698

Cited by 6 publications

(3 citation statements)

References 38 publications

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“…The relevant information of the top 15 epistasis that may be closely related to AMD disease obtained by the FICSA algorithm is given in Table 2, including the name, gene and chromosome of the SNP. According to the experimental results, most of the detected epistatic interactions contain rs380390 and rs1329428, these two SNPs have been widely covered to have a relationship with the AMD disease [10,[36][37][38][39][40][41]. rs1363688 is in the non-genetic coding region (N/A), which has also been proved to be related to the AMD disease [42,43].…”

Section: Experiments Results On Real Amd Datamentioning

confidence: 99%

Crow Search Algorithm Based on Information Interaction for Epistasis Detection

Zhang

Shang

et al. 2023

Preprint

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Background: In the genome-wide association study, the interactions of single nucleotide polymorphisms (SNPs) play an important role in revealing the genetic mechanism of complex diseases, and such interaction is called epistasis or epistatic interactions. In recent years, swarm intelligence methods have been widely used to detect epistatic interactions because they can effectively deal with global optimization problems. Results: In this study, we propose a crow search algorithm based on information interaction (FICSA) to detect epistatic interactions. FICSA combines particle swarm optimization (PSO) and crow search algorithm (CSA) to balance the exploration and exploitation in the search process, which can effectively improve the ability of the algorithm to detect epistatic interactions. In addition, opposition-based learning strategy and adaptive parameters are used to further improve the performance of the algorithm. We compare FICSA with other five epistasis detection algorithms on simulated datasets and an age-related macular degeneration (AMD) dataset. The results on simulated datasets show that FICSA has better detection power, while the results on the real dataset demonstrate the effectiveness of the proposed algorithm. Conclusions: The results show that FICSA is better than other methods and can effectively detect epistatic interactions. In addition，FICSA was tested on AMD data, many of the epistatic interactions found have been proved to be related to AMD in the relevant literature. Therefore, FICSA has good performance in epistasis detection.

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Section: Experiments Results On Real Amd Datamentioning

confidence: 99%

Crow Search Algorithm Based on Information Interaction for Epistasis Detection

Zhang

Shang

et al. 2023

Preprint

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“…CFH gene variants have been found to largely affect the functional activity of CFH, rather than serum levels [ 90 ]. Two common loss-of-function CFH variants—rs1061170 (Y402H) [ 66 , 67 , 68 , 69 ] and rs1410996 [ 91 ]—account for a significant portion of AMD genetic risk across populations [ 42 , 92 , 93 , 94 , 95 , 96 , 97 , 98 , 99 ]. These two variants are notably found at rates nearly seven-fold higher in European compared to Asian populations [ 100 ], potentially accounting for some of the difference in AMD prevalence between these two populations.…”

Section: Immune Dysregulation and The Complement Systemmentioning

confidence: 99%

Molecular Genetic Mechanisms in Age-Related Macular Degeneration

Shughoury

Sevgi

Ciulla

2022

Genes

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Age-related macular degeneration (AMD) is among the leading causes of irreversible blindness worldwide. In addition to environmental risk factors, such as tobacco use and diet, genetic background has long been established as a major risk factor for the development of AMD. However, our ability to predict disease risk and personalize treatment remains limited by our nascent understanding of the molecular mechanisms underlying AMD pathogenesis. Research into the molecular genetics of AMD over the past two decades has uncovered 52 independent gene variants and 34 independent loci that are implicated in the development of AMD, accounting for over half of the genetic risk. This research has helped delineate at least five major pathways that may be disrupted in the pathogenesis of AMD: the complement system, extracellular matrix remodeling, lipid metabolism, angiogenesis, and oxidative stress response. This review surveys our current understanding of each of these disease mechanisms, in turn, along with their associated pathogenic gene variants. Continued research into the molecular genetics of AMD holds great promise for the development of precision-targeted, personalized therapies that bring us closer to a cure for this debilitating disease.

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“…Replication studies on different ethnic populations show consistent results [7][8][9][10][11][12][13][14][15][16][17][18][19][20], but there are no reports on Indonesian populations. In addition to CFH and ARMS2 [3], no other genetics factors have been examined in Indonesia.…”

Section: Introductionmentioning

confidence: 99%

Association of the HtrA1 rs11200638 Polymorphism with Neovascular Age-Related Macular Degeneration in Indonesia

et al. 2021

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Introduction The aim of this study was to investigate the association of the HtrA1 rs11200638 polymorphism with neovascular age-related macular degeneration (nAMD) in Indonesia. Methods This case–control study included 80 patients with nAMD and 85 controls. Demographic parameters and whole blood were collected from each participant. Genomic DNA was extracted and used to assess the rs11200638 genotype by PCR and restriction enzyme digestion. Associations between the HtrA1 rs11200638 polymorphism and other risk factors for susceptibility to nAMD were assessed using the logistic regression model. Results Significant allelic associations between the HtrA1 polymorphism and nAMD were detected (odds ratio [OR] 8.67; 95% confidence interval [CI] 4.88–15.41; P < 0.001). Genotype analysis showed a statistical difference between the nAMD group and the control group ( P < 0.001). In the multiple adjusted logistic regression model, people with the AA genotype were more likely to have nAMD although there was a wide confidence interval (OR 19.65; 95% CI 4.52–85.38; P < 0.001). Conclusion Our findings show that the risk of nAMD increased in the presence of risk alleles of HtrA1 rs11200638.

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Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population

Cited by 6 publications

References 38 publications

Crow Search Algorithm Based on Information Interaction for Epistasis Detection

Crow Search Algorithm Based on Information Interaction for Epistasis Detection

Molecular Genetic Mechanisms in Age-Related Macular Degeneration

Association of the HtrA1 rs11200638 Polymorphism with Neovascular Age-Related Macular Degeneration in Indonesia

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