Association of<i>LOC387715/ARMS2</i>(rs10490924) Gene Polymorphism with Age-Related Macular Degeneration in the Brazilian Population

Hirata, Fábio Endo; Vasconcellos, José Paulo Cabral de; Medina, Flávio Mac Cord; Rim, Priscila Hae Hyun; Fulco, Enzo; Melo, Mônica Barbosa de

doi:10.3109/13816810.2013.867449

Cited by 9 publications

(7 citation statements)

References 20 publications

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“…Previous studies have shown that the rs10490924 polymorphism, located in the ARMS2 gene, has a strong association with AMD (Rivera et al, 2005;Ross et al, 2007;Fritsche et al, 2008;Tong et al, 2010;Fuse et al, 2011;Soysal et al, 2012;Tamura et al, 2012;Hirata et al, 2013). Similar results were observed in our study through logistical regression analysis.…”

Section: Discussionsupporting

confidence: 92%

“…Rivera et al (2005) studied the same genetic region in 794 patients with AMD, and they reported a T allele frequency of 0.417. Hirata et al (2013) investigated the association between ARMS2 gene rs10490924 polymorphism and AMD. They found that the T allele frequency was significantly higher in patients with AMD than in the controls (39.6% compared to 20.3%).…”

Section: Discussionmentioning

confidence: 99%

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Effect of ARMS2 gene polymorphism on intravitreal ranibizumab treatment for neovascular age-related macular degeneration

Bardak

Erçalik

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Age-related macular degeneration (AMD) is a leading cause of blindness in developed countries. The ARMS2 gene has been found to be associated with AMD. Currently, intravitreal ranibizumab (IVR) treatment is one of the widely used treatments for neovascular AMD. The aim of this study was to investigate the association between the genotype of ARMS2 rs10490924 polymorphism and IVR treatment responsiveness in patients with neovascular AMD. The study included 39 patients with advanced neovascular AMD (patient group) and 250 healthy individuals with exome sequencing data (control group). The patient group was divided into three subgroups: GG (N = 10), TG (N = 14), and TT (N = 15). Before IVR treatment, all patients had intraretinal or subretinal fluid or both. They received three monthly IVR-injection treatments. One month after the third injection, the patients were evaluated as either "responders" or "non-responders" based on the presence or absence of intraretinal or subretinal fluid or both. The patient subgroups TG and TT had an 8.56-and 39-fold higher risk of AMD, respectively, than patient subgroup GG had. The allele frequency was 0.537 and 0.10 in the patient and control groups, respectively. Within the patient subgroup TT, there was a significant difference between the "responders" and "non-responders" (P = 0.025). In conclusion, in neovascular AMD patients undergoing IVR treatment, TT genotype tended to be a better predictor of good short-term treatment response, compared to the GG and TG genotypes. Further studies using confirmed genetic biomarkers for individualized optimal treatments are required.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Effect of ARMS2 gene polymorphism on intravitreal ranibizumab treatment for neovascular age-related macular degeneration

Bardak

Erçalik

et al. 2016

Genet. Mol. Res.

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“…Out of the genetic polymorphisms previously shown to be associated with risk for AMD [21][22][23][24][25][26][27][28][29][30][31][32][33][34], single nucleotide polymorphisms rs800292 (p = 0.0012), rs1410996 (p = 0.00019) and rs1061170 (p = 0.000064) within the complement factor H (CFH) gene and rs11200638 (p = 0.00012) within the high temperature requirement A serine peptidase 1 (HTRA1) gene were associated with a higher risk for having AMD in our cohort. However, rs12614 (p = 0.0057) within the complement factor B (CFB) gene was inversely correlated with AMD in the cohort (Fisher's exact test, Table 2).…”

Section: Association Between Single Nucleotide Polymorphisms and Amdmentioning

confidence: 99%

Associations of the intestinal microbiome with the complement system in age-related macular degeneration

Zysset-Burri¹,

Keller²,

Berger³

et al. 2019

Preprint

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Background: Age-related macular degeneration (AMD) is a leading cause of severe vision loss in the aged population. The etiology of AMD is multifactorial and includes nutritional factors, genetic variants mainly in the complement pathway, environmental risk factors and alterations in the intestinal microbiome. However, it remains largely unexplored whether there is an interdependency of these factors leading to the development of AMD. To investigate this issue, a comprehensive shotgun metagenomics analysis of 57 AMD and 58 healthy controls as well as of 16 complement C3 deficient mice and 16 wildtypes was performed. Single nucleotide polymorphisms (SNPs) in the complement factors were assessed with pre-designed TaqMan® SNP genotyping assays. Results: The composition of the intestinal microbiome differed significantly between AMD patients and controls. Whereas the class Negativicutes was more abundant in patients, the genus Oscillibacter and Bacteroides species had a significantly higher prevalence in persons without AMD. While SNPs within the complement factor B gene were more abundant in controls, SNPs within the high temperature requirement A serine peptidase 1 and complement factor H (CFH) genes were associated with AMD. Using a classification model, Negativicutes was identified as a potential biomarker for AMD and furthermore, it positively correlated with CFH. In addition, similar taxonomic features were identified that distinguished wildtype mice from C3 deficient mice. Conclusion: The composition of the intestinal microbiome differs between AMD patients and controls as well as between C3 deficient mice and wildtype mice. Moreover, since the phylum Firmicutes has been identified as potential biomarker for AMD and positively correlates with the genetic risk factor CFH, the study suggests an association between the intestinal microbiome and the complement system in AMD.

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“…Research on genes related to AMD has been inconclusive because of the complexity of the disorder and involvement of multiple factors. Thus far, genes that have been reported to be associated with AMD include: ABCA4, CFH, EFEMP1, CFB, C2, RDS, VEGF, ELOVL4, CX3CR1, HTRA1, LOC387715, VMD2, APOE, and TIMP3 (Kanda et al, 2005;Klein et al, 2005;Gold et al, 2006;Fu et al, 2007;Leveziel et al, 2007;Spencer et al, 2007;Lin et al, 2008;Chen et al, 2012;Fritsche et al, 2012;Priya et al, 2012;Stanton et al, 2012;Sun et al, 2012;Hirata et al, 2013;Ersoy et al, 2014;Nazari Khanamiri et al, 2014). Although the involvement of some of some of these genes with AMD has been demonstrated in previous studies, conflicting results have also been reported.…”

Section: Introductionmentioning

confidence: 99%

Genome-wide analysis of single nucleotide polymorphisms in patients with atrophic age-related macular degeneration in oldest old Han Chinese

2015

Genet. Mol. Res.

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ABSTRACT. The aim of this study was to identify disease-associated loci in oldest old Han Chinese with atrophic age-related macular degeneration (AMD). This genome-wide association study (GWAS) only included oldest old (≥95 years old) subjects in Rugao County, China. Thirty atrophic AMD patients and 47 age-matched non-AMD controls were enrolled. The study subjects underwent a complete ophthalmic examination. Genomic DNA was extracted from peripheral blood samples. Single nucleotide polymorphisms (SNPs) were scanned by Genome-Wide Human Mapping SNP 6.0 Arrays and GeneChip Scanner 3000 7G. The results were read and analyzed by the Affymetrix Genotyping Console software. We filtered out the SNPs with a no-call rate ≥10%, MAF P < 0.05, and HWE P < 0.001. The remaining 561,277 SNPs were included in the association analysis. We found that the following 2 SNPs had the highest association with atrophic AMD: rs7624556 (located on 3q24) and rs13119914 (located on 4q34.3). In conclusion, we identified two atrophic AMD-associated SNPs (rs7624556 and rs13119914) in an oldest old Han Chinese population. 17433SNP analysis for oldest old patients with atrophic AMD

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Association ofLOC387715/ARMS2(rs10490924) Gene Polymorphism with Age-Related Macular Degeneration in the Brazilian Population

Abstract: These results suggest that there is a contribution of the rs10490924 SNP of the LOC387715/ARMS2 gene to AMD susceptibility in this sample of the Brazilian population.

Cited by 9 publications

References 20 publications

Effect of ARMS2 gene polymorphism on intravitreal ranibizumab treatment for neovascular age-related macular degeneration

Effect of ARMS2 gene polymorphism on intravitreal ranibizumab treatment for neovascular age-related macular degeneration

Associations of the intestinal microbiome with the complement system in age-related macular degeneration

Genome-wide analysis of single nucleotide polymorphisms in patients with atrophic age-related macular degeneration in oldest old Han Chinese

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