biostudies-literatureSobrin LIntramural NIH HHSNEI NIH HHSNCATS NIH HHSNCRR NIH HHSNIDDK NIH HHSNIA NIH HHSNHLBI NIH HHSNHGRI NIH HHSNCI NIH HHSWellcome Trust111-123https://www.ebi.ac.uk/biostudies/studies/S-EPMC8678352biostudies-literatureUnknown233To identify functionally related genes associated with diabetic retinopathy (DR) risk using gene set enrichment analyses applied to genome-wide association study meta-analyses.<h4>Methods</h4>We analyzed DR GWAS meta-analyses performed on 3246 Europeans and 2611 African Americans with type 2 diabetes. Gene sets relevant to 5 key DR pathophysiology processes were investigated: tissue injury, vascular events, metabolic events and glial dysregulation, neuronal dysfunction, and inflammation. Keywords relevant to these processes were queried in 4 pathway and ontology databases. Two GSEA methods, Meta-Analysis Gene set Enrichment of variaNT Associations (MAGENTA) and Multi-marker Analysis of GenoMic Annotation (MAGMA), were used. Gene sets were defined to be enriched for gene associations with DAmerican journal of ophthalmologyGene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy.PMC8678352R01 DK084149RC2 HL102419U01 DK070657ZIA EY000408HHSN268201100009IR01 AG023629U01 DK057329UL1 RR025005ZIA EY000403HHSN268201100009CZIA EY000401HHSN268200800007CN01 HC055222K12 EY016335M01 RR000827R01 EY014684M01 RR000425P30 DK063491R01 DK087914P30 EY001792U01 HG004402UL1 TR001420M01 RR001346U01 HL080295U01 HL041652U01 HL041654P30 EY014104U01 DK057292ZIA AG007380HHSN268201300049CM01 RR000080U10 EY011753R01 EY023644U01 DK057295HHSN268201700005IR01 DK070941HHSN268201700005C085475/08/ZU01 DK057298U01 HL130114R01 HL087641N01 HC085083N01 HC085082N01 HC085081N01 HC085086UL1 TR001881R01 EY022302N01 HC095166N01 HC095165HHSN268201700004IN01 HC095168HHSN268201300048CN01 HC095167N01 HC085080N01 HC095169R01 HL059367U01 HL065520N01 HC095160HHSN268201100005CN01 HC095162N01 HC095161M01 RR000997N01 HC095164HHSN268201700004CN01 HC075150N01 HC095163U01 DK057249HHSN268201100005IHHSN268201100005GUL1 TR000040HHSN268201700003IN02 HL064278HHSN268201300047CN01 CO012400HHSN268201100006CHHSN268201800001CHHSN268201700003CR01 DK066358HHSN268201100010CR01 HL086694HHSN268201100011IHHSN268201300046CHHSN268201700002I75N92020D00007HHSN268201300050CHHSN268201200036CHHSN268201100007CHHSN268201700002CU01 DK05730075N92020D0000175N92020D00002HHSN268201100011C75N92020D00005U01 DK05730475N92020D00006M01 RR00712275N92020D00003085475/B/08/ZHHSN268201100007I75N92020D00004U01 DK057303R01 DK053591HHSN268201500003CUL1 TR001079N01 HC095159HHSN268201700001IHHSN268201700001CHHSN268201100008CN01 HC085079HHSN268201100008IHHSN268201500003IHHSN268201100012CChew EYBowden DWRotter JIIyengar SKBurdon KPPollack SYaspan BAdler SGSobrin LLi ASmith AVKlein BEKRouhana JMCotch MFWang JJStanwyck LTaylor KDChen CJSegre AVNg MCYFreedman BIMitchell PJensen RALi XWong TYKuo JZPenman ACraig JESusarla GIgo RPfalseGene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy.To identify functionally related genes associated with diabetic retinopathy (DR) risk using gene set enrichment analyses applied to genome-wide association study meta-analyses.<h4>Methods</h4>We analyzed DR GWAS meta-analyses performed on 3246 Europeans and 2611 African Americans with type 2 diabetes. Gene sets relevant to 5 key DR pathophysiology processes were investigated: tissue injury, vascular events, metabolic events and glial dysregulation, neuronal dysfunction, and inflammation. Keywords relevant to these processes were queried in 4 pathway and ontology databases. Two GSEA methods, Meta-Analysis Gene set Enrichment of variaNT Associations (MAGENTA) and Multi-marker Analysis of GenoMic Annotation (MAGMA), were used. Gene sets were defined to be enriched for gene associations with D2022-01-01T00:00:00Z2022 Jan2026-05-08T02:07:44.598Z2025-02-18T22:34:43.421ZS-EPMC86783523416665510.1016/j.ajo.2021.06.014