biostudies-literatureMcKay GJEconomic and Social Research CouncilIntramural NIH HHSBritish Heart FoundationNEI NIH HHSMedical Research CouncilNational Institute for Health Research (NIHR)1407-16https://www.ebi.ac.uk/biostudies/studies/S-EPMC3217135biostudies-literatureUnknown32(12)Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in low-density cholesterol modulation. Potential interaction between APOE and sex, and smoking status has been reported. We present a pooled analysis (n = 21,160) demonstrating associations between late AMD and APOε4 (odds ratio [OR] = 0.72 per haplotype; confidence interval [CI]: 0.65-0.74; P = 4.41×10(-11) ) and APOε2 (OR = 1.83 for homozygote carriers; CI: 1.04-3.23; P = 0.04), following adjustment for age group and sex within each study and smoking status. No evidence of interaction between APOE and sex or smoking was found. Ever smokers had sHuman mutationEvidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.PMC3217135MC_PC_U127584475G0700704BR01 EY016862G0000067MC_U127584475ZIA EY000475ES/G007438/1NF-SI-0507-10094G0601354MC_PC_U127561128RG/10/12/28456R01 EY011309Dasari SSeland JHAbecasis GRSoubrane GGorin MBOthman MYates JRChen WKlaver CCVingerling JRKlein MLSeddon JMMoore ATHayward CEnnis SKanda AWright AFFletcher AEFritsche LGWeeks DEHo LPatterson CCAttia JRahu MFrancis PJSilvestri GWeber BHVioque JWebster ARTomazzoli LPeter IYoung ISLotery AJSofat RCipriani VKeilhauer CNMcKay GJKuo CLGuymer RHChakravarthy UTopouzis FThakkinstian ABaird PNHingorani ADde Jong PTSwaroop AStambolian DOrlin ASawitzke JDean MfalseEvidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in low-density cholesterol modulation. Potential interaction between APOE and sex, and smoking status has been reported. We present a pooled analysis (n = 21,160) demonstrating associations between late AMD and APOε4 (odds ratio [OR] = 0.72 per haplotype; confidence interval [CI]: 0.65-0.74; P = 4.41×10(-11) ) and APOε2 (OR = 1.83 for homozygote carriers; CI: 1.04-3.23; P = 0.04), following adjustment for age group and sex within each study and smoking status. No evidence of interaction between APOE and sex or smoking was found. Ever smokers had s2011-01-01T00:00:00Z2011 Dec2026-04-15T11:23:52.109Z2026-04-07T13:55:36.254ZS-EPMC32171352188229010.1002/humu.21577