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The association study of lipid metabolism gene polymorphisms with AMD identifies a protective role for APOE ‐E2 allele in the wet form in a Northern Spanish population
Author(s) -
FernándezVega Beatriz,
García Montserrat,
Olivares Lorena,
Álvarez Lydia,
GonzálezFernández Adrián,
Artime Enol,
FernándezVega Cueto Andrés,
Cobo Teresa,
CocaPrados Miguel,
Vega José A.,
GonzálezIglesias Héctor
Publication year - 2020
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/aos.14280
Subject(s) - single nucleotide polymorphism , allele , genotype , snp , apolipoprotein e , biology , genetics , gene , population , allele frequency , macular degeneration , medicine , ophthalmology , disease , environmental health
Abstract Purpose To elucidate the potential role of eleven single nucleotide polymorphisms ( SNP s) 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 SNP s APOE rs429358 and rs7412; CTEP rs3764261; LIPC rs10468017 and rs493258; LP L rs12678919; ABCA 1 rs1883025; ABCA 4 rs76157638, rs3112831 and rs1800555; and SCARB 1 rs5888, using TaqMan probes. An additional association study of ε 2, ε 3 and ε 4 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 ‐ ε 2 carrier genotypes were less frequently observed in patients with wet AMD compared to controls (5.8% versus 13.7%, respectively: p = 3.28 × 10 −2 ; 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 × 10 −3 OR = 0.57, 95% CI : 0.33–0.98). Conclusions Our results suggest a protective role for APOE ‐ ε 2 allele to wet AMD in the Northern Spanish population.