The association study of lipid metabolism gene polymorphisms withAMDidentifies a protective role forAPOE‐E2 allele in the wet form in a Northern Spanish population

Abstract

Purpose: To elucidate the potential role of eleven single nucleotide polymorphisms (SNPs) in the most relevant lipid metabolism genes in Northern Spanish patients with age-related macular degeneration (AMD). Methods: A case-control study of 228 unrelated native Northern Spanish patients diagnosed with AMD (73 dry and 155 wet) and 95 healthy controls was performed. DNA was isolated from peripheral blood and genotyped for the SNPs APOE rs429358 and rs7412; CTEP rs3764261; LIPC rs10468017 and rs493258; LPL rs12678919; ABCA1 rs1883025; ABCA4 rs76157638, rs3112831 and rs1800555; and SCARB1 rs5888, using TaqMan probes. An additional association study of e2, e3 and e4 major isoforms of APOE gene with AMD has been carried out. Results: The allele and genotype frequencies for each of the eleven sequence variants in the lipid metabolism genes did not show significant differences when comparing AMD cases and controls. Statistical analysis revealed that APOE-e2 carrier genotypes were less frequently observed in patients with wet AMD compared to controls (5.8% versus 13.7%, respectively: p = 3.28 3 10 À2 ; OR = 0.42, 95% CI: 0.19-0.95). The frequency of the allele T of rs10468017 (LIPC gene) was lower in dry AMD cases compared to controls (15.8 versus 27.9%, respectively: p = 8.4 3 10 À3 OR = 0.57, 95% CI: 0.33-0.98). Conclusions: Our results suggest a protective role for APOE-e2 allele to wet AMD in the Northern Spanish population.

Long-Chain Polyunsaturated Fatty Acids and Their Metabolites Regulate Inflammation in Age-Related Macular Degeneration

“…40 In recent years, the roles of inflammation and lipid metabolism in retinal diseases have been highlighted. [41][42][43] This review mainly focused on the regulation of inflammation by LCPUFA metabolism to facilitate drug development and clinical research.…”

Evaluation of APOE polymorphisms and the risk for age-related macular degeneration in a Southeastern Brazilian population

“…Particularities of the Brazilian population, including a great miscegenation and ethnic heterogeneity, increase the interest regarding the genetic profile of AMD and its relationship with data described in the literature in other populations. The only Brazilian study available in the literature 25 did not demonstrate a significant association between APOE polymorphisms and AMD risk. These results may be related to the sample size, which included 134 cases and 164 controls.…”

“…Schmidt et al 28 and Adams et al 29 also related the E2 and AMD association with smoking status. A recent study 25 described, for the first time, a protective effect for the E2 allele in relation to wet AMD in a Spanish population (OR 0.42; 95% CI 0.19-0.95).…”

“…Several studies 6,[8][9][10][11][12][13] have shown a protective effect for the E4 allele. Although this relationship is widely supported, there is a lack of association in some cohorts from different populations, [19][20][21][22][23][24][25][26] including Caucasian, 19,[22][23][24] Hispanic, 25 and Asian populations. 20,21,26 This protective effect of E4 could not be proven in some studies, even when analyzing non advanced and advanced AMD subgroups 26 or sporadic and familial cases of AMD.…”

Genetic Mechanism Revealed of Age-Related Macular Degeneration Based on Fusion of Statistics and Machine Learning Method

“…Multiple studies have shown that there is a strong correlation between multiple genetic variants in this gene cluster and AMD (Johnson et al, 2001). Recently, it has been discovered that the apolipoprotein E (APOE) gene has a strong correlation with AMD (Fernández-Vega et al, 2020). The APOE gene plays a role in transporting lipids and cholesterol in the central nervous system, and multiple studies have shown that this gene is associated with neurodegenerative diseases such as Alzheimer's disease and stroke (Feher et al, 2006;Zhao et al, 2019Zhao et al, , 2020d.…”