scholarly journals The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A

2019 ◽  
Vol 20 (7) ◽  
pp. 1578 ◽  
Author(s):  
Claudia Strafella ◽  
Valeria Errichiello ◽  
Valerio Caputo ◽  
Gianluca Aloe ◽  
Federico Ricci ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Direct Sequencing ◽  
Bioinformatic Analysis ◽  
Age Related Macular Degeneration ◽  
Italian Population ◽  
Nucleotide Polymorphisms ◽  
Complex Interplay ◽  
Single Nucleotide ◽  
Age Related ◽  
The Impact

The complex interplay among genetic, epigenetic, and environmental variables is the basis for the multifactorial origin of age-related macular degeneration (AMD). Previous results highlighted that single nucleotide polymorphisms (SNPs) of CFH, ARMS2, IL-8, TIMP3, SLC16A8, RAD51B, VEGFA, and COL8A1 were significantly associated with the risk of AMD in the Italian population. Given these data, this study aimed to investigate the impact of SNPs in genes coding for MIR146A, MIR31, MIR23A, MIR27A, MIR20A, and MIR150 on their susceptibility to AMD. Nine-hundred and seventy-six patients with exudative AMD and 1000 controls were subjected to an epigenotyping analysis through real-time PCR and direct sequencing. Biostatistical and bioinformatic analysis was performed to evaluate the association with susceptibility to AMD. These analyses reported that the SNPs rs11671784 (MIR27A, G/A) and rs2910164 (MIR146A, C/G) were significantly associated with AMD risk. Interestingly, the bioinformatic analysis showed that MIR27A and MIR146A take part in the angiogenic and inflammatory pathways underlying AMD etiopathogenesis. Thus, polymorphisms within the pre-miRNA sequences are likely to affect their functional activity, especially the interaction with specific targets. Therefore, our study represents a step forward in the comprehension of the mechanisms leading to AMD onset and progression, which certainly include the involvement of epigenetic modifications.

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

2021 ◽  
pp. 112067212110026
Author(s):  
Pablo Gili ◽  
Leyre Lloreda Martín ◽  
José-Carlos Martín-Rodrigo ◽  
Naon Kim-Yeon ◽  
Laura Modamio-Gardeta ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Gene Polymorphisms ◽  
Age Related Macular Degeneration ◽  
Spanish Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Exudative Amd ◽  
Age Related ◽  
Increased Risk

Purpose: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C3 genes and exudative age-related macular degeneration (AMD) in a Spanish population. Methods: In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes were analyzed. Results: The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17–18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93–5.40). In CFH (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47–4.30). In ARMS2 (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23–9.31). The A allele in HTRA1 (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62–11.47). In C2 gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06–9.06). Conclusion: SNPs in CFH, ARMS2, HTRA1, and C2 genes were associated in our study with an increased risk for exudative AMD in Spanish patients.

scholarly journals Single Nucleotide Polymorphisms in MCP-1 and Its Receptor Are Associated with the Risk of Age Related Macular Degeneration

PLoS ONE ◽  
2012 ◽  
Vol 7 (11) ◽  
pp. e49905 ◽  
Author(s):  
Akshay Anand ◽  
Neel Kamal Sharma ◽  
Amod Gupta ◽  
Sudesh Prabhakar ◽  
Suresh Kumar Sharma ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Age Related

scholarly journals Analysis of Single Nucleotide Polymorphisms in theNOS2AGene and Interaction with Smoking in Age-Related Macular Degeneration

2010 ◽  
Vol 74 (3) ◽  
pp. 195-201 ◽  
Author(s):  
Juan A. Ayala-Haedo ◽  
Paul J. Gallins ◽  
Patrice L. Whitehead ◽  
Stephen G. Schwartz ◽  
Jaclyn L. Kovach ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Age Related

scholarly journals Association of Single-Nucleotide Polymorphisms in Age-Related Macular Degeneration With Pseudodrusen

2018 ◽  
Vol 136 (6) ◽  
pp. 682 ◽  
Author(s):  
Lisa Y. Lin ◽  
Qiang Zhou ◽  
Stephanie Hagstrom ◽  
Maureen G. Maguire ◽  
Ebenezer Daniel ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Age Related

scholarly journals Do age-related macular degeneration genes show association with keratoconus?

2019 ◽  
Vol 6 (1) ◽  
Author(s):  
Ke Cao ◽  
Srujana Sahebjada ◽  
Andrea J. Richardson ◽  
Paul N. Baird
Keyword(s):  
Macular Degeneration ◽  
Multiple Testing ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Corneal Curvature ◽  
Single Nucleotide ◽  
Public And Private ◽  
Age Related ◽  
Potential Association ◽  
And Gender

Abstract Background Keratoconus (KC) is a common corneal condition with an unknown gender predominance. Although numerous studies have investigated the genetic component of KC, no specific genes have yet been attributed to the condition. We recently reported posterior segment changes occurring in the eyes of KC patients. However, it is not clear whether these changes are part of KC pathogenesis or reflect changes in anatomical features of the eye manifested by changes at the cornea. Given retinal changes represent the main characteristics observed in age-related macular degeneration (AMD) and that pleiotropy has been demonstrated between different eye diseases, we wished to assess if known AMD associated genes were also associated with KC. Methods A total of 248 KC subjects and 366 non-KC (control) subjects were recruited from public and private clinics in Melbourne for this analysis. Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (ARMS2/HTRA1), rs10737680 (CFH), rs13278062 (TNFRSF10A), rs1864163 (CETP), rs2230199 (C3), rs3130783 (IER3/DDR1), rs334353 (TGFBR1), rs3812111 (COL10A1), rs429608 (C2/CFB), rs4420638 (APOE), rs4698775 (CFI), rs5749482 (TIMP3), rs6795735 (ADAMTS9), rs8017304 (RAD51B), rs8135665 (SLC16A8), rs920915 (LIPC), rs943080 (VEGFA), rs9542236 (B3GALTL) and rs13081855 (COL8A1/FILIP1L), were genotyped in this cohort. Logistic regression was applied to evaluate the association between these SNPs and KC on both genders together, as well as each gender separately. Linear regression was also applied to assess the association between SNPs and corneal curvature. Bonferroni correction was applied to adjust for multiple testing. Results Genotyping data were available for 18 SNPs. The SNP, rs6795735 (ADAMTS9) was significantly associated with KC (p = 3.5 × 10− 4) when both genders were assessed, whereas rs5749482 (TIMP3) was only associated in males (p = 7.7 × 10− 4) following Bonferroni multiple correction. However, when the covariates of age and gender were included, the associations became non-significant. In addition, none of the SNPs appeared significant for corneal curvature. Conclusions Our study suggested a potential association of rs6795735 in the ADAMTS9 gene and rs5749482 in the TIMP3 gene in KC and that different associations may be gender specific. Overall, SNPs initially identified as associated with AMD following multiple correction may be further impacted by other factors such as age or gender and further studies are needed to resolve this issue.

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