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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

dc.contributor.authorFernández-Vega B.
dc.contributor.authorGarcía M.
dc.contributor.authorOlivares L.
dc.contributor.authorÁlvarez L.
dc.contributor.authorGonzález-Fernández A.
dc.contributor.authorArtime E.
dc.contributor.authorFernández-Vega Cueto A.
dc.contributor.authorCobo T.
dc.contributor.authorCoca-Prados M.
dc.contributor.authorVega J.A.
dc.contributor.authorGonzález-Iglesias H.
dc.date.accessioned2020-09-02T22:17:31Z
dc.date.available2020-09-02T22:17:31Z
dc.date.issued2020
dc.identifier10.1111/aos.14280
dc.identifier.citation98, 3, e282-e291
dc.identifier.issn1755375X
dc.identifier.urihttps://hdl.handle.net/20.500.12728/4462
dc.descriptionPurpose: 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 ε2, ε3 and ε4 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-ε2 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-ε2 allele to wet AMD in the Northern Spanish population. © 2019 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd
dc.language.isoen
dc.publisherBlackwell Publishing Ltd
dc.subjectage-related macular degeneration
dc.subjectgenetic association
dc.subjectlipid metabolism genes
dc.subjectNorthern Spanish population
dc.subjectsingle nucleotide polymorphism
dc.subjectadenine
dc.subjectapolipoprotein E
dc.subjectapolipoprotein E epsilon2
dc.subjectapolipoprotein E epsilon3
dc.subjectapolipoprotein E epsilon4
dc.subjectATP binding cassette subfamily A member 1 protein
dc.subjectcholesterol ester transfer protein
dc.subjectcytosine
dc.subjectDNA
dc.subjectgenomic DNA
dc.subjectguanine
dc.subjectisoprotein
dc.subjectlipase C
dc.subjectlipid
dc.subjectlipoprotein lipase
dc.subjectliver triacylglycerol lipase
dc.subjectretinal specific ATP binding cassette transporter
dc.subjectscavenger receptor class B member 1 protein
dc.subjectthymine
dc.subjectunclassified drug
dc.subjectABCA1 gene
dc.subjectABCA4 gene
dc.subjectadult
dc.subjectage related macular degeneration
dc.subjectage related macular degeneration dry form
dc.subjectage related macular degeneration wet form
dc.subjectaged
dc.subjectallele
dc.subjectAPOE epsilon2 gene
dc.subjectArticle
dc.subjectblood
dc.subjectcase control study
dc.subjectcontrolled study
dc.subjectCTEP gene
dc.subjectdisease predisposition
dc.subjectdisease risk assessment
dc.subjectDNA isolation
dc.subjectDNA polymorphism
dc.subjectDNA sequence
dc.subjectfemale
dc.subjectgene
dc.subjectgene frequency
dc.subjectgene function
dc.subjectgene linkage disequilibrium
dc.subjectgene location
dc.subjectgenetic association
dc.subjectgenetic protective factor
dc.subjectgenetic risk
dc.subjectgenetic variability
dc.subjectgenotype
dc.subjectgeographic distribution
dc.subjecthaplotype
dc.subjectheterozygote
dc.subjecthuman
dc.subjectLIPC gene
dc.subjectlipid metabolism
dc.subjectLPL gene
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectpathophysiology
dc.subjectprevalence
dc.subjectpriority journal
dc.subjectprotection
dc.subjectprotein function
dc.subjectrecessive gene
dc.subjectrisk factor
dc.subjectSCARB1 gene
dc.subjectsingle nucleotide polymorphism
dc.subjectSpain
dc.subjecttrend study
dc.subjectvery elderly
dc.titleThe 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
dc.typeArticle


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