{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Sobrin L"],"funding":["Intramural NIH HHS","NEI NIH HHS","NCATS NIH HHS","NCRR NIH HHS","NIDDK NIH HHS","NIA NIH HHS","NHLBI NIH HHS","NHGRI NIH HHS","NCI NIH HHS","Wellcome Trust"],"pagination":["111-123"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8678352"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["233"],"pubmed_abstract":["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 D"],"journal":["American journal of ophthalmology"],"pubmed_title":["Gene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy."],"pmcid":["PMC8678352"],"funding_grant_id":["R01 DK084149","RC2 HL102419","U01 DK070657","ZIA EY000408","HHSN268201100009I","R01 AG023629","U01 DK057329","UL1 RR025005","ZIA EY000403","HHSN268201100009C","ZIA EY000401","HHSN268200800007C","N01 HC055222","K12 EY016335","M01 RR000827","R01 EY014684","M01 RR000425","P30 DK063491","R01 DK087914","P30 EY001792","U01 HG004402","UL1 TR001420","M01 RR001346","U01 HL080295","U01 HL041652","U01 HL041654","P30 EY014104","U01 DK057292","ZIA AG007380","HHSN268201300049C","M01 RR000080","U10 EY011753","R01 EY023644","U01 DK057295","HHSN268201700005I","R01 DK070941","HHSN268201700005C","085475/08/Z","U01 DK057298","U01 HL130114","R01 HL087641","N01 HC085083","N01 HC085082","N01 HC085081","N01 HC085086","UL1 TR001881","R01 EY022302","N01 HC095166","N01 HC095165","HHSN268201700004I","N01 HC095168","HHSN268201300048C","N01 HC095167","N01 HC085080","N01 HC095169","R01 HL059367","U01 HL065520","N01 HC095160","HHSN268201100005C","N01 HC095162","N01 HC095161","M01 RR000997","N01 HC095164","HHSN268201700004C","N01 HC075150","N01 HC095163","U01 DK057249","HHSN268201100005I","HHSN268201100005G","UL1 TR000040","HHSN268201700003I","N02 HL064278","HHSN268201300047C","N01 CO012400","HHSN268201100006C","HHSN268201800001C","HHSN268201700003C","R01 DK066358","HHSN268201100010C","R01 HL086694","HHSN268201100011I","HHSN268201300046C","HHSN268201700002I","75N92020D00007","HHSN268201300050C","HHSN268201200036C","HHSN268201100007C","HHSN268201700002C","U01 DK057300","75N92020D00001","75N92020D00002","HHSN268201100011C","75N92020D00005","U01 DK057304","75N92020D00006","M01 RR007122","75N92020D00003","085475/B/08/Z","HHSN268201100007I","75N92020D00004","U01 DK057303","R01 DK053591","HHSN268201500003C","UL1 TR001079","N01 HC095159","HHSN268201700001I","HHSN268201700001C","HHSN268201100008C","N01 HC085079","HHSN268201100008I","HHSN268201500003I","HHSN268201100012C"],"pubmed_authors":["Chew EY","Bowden DW","Rotter JI","Iyengar SK","Burdon KP","Pollack S","Yaspan B","Adler SG","Sobrin L","Li A","Smith AV","Klein BEK","Rouhana JM","Cotch MF","Wang JJ","Stanwyck L","Taylor KD","Chen CJ","Segre AV","Ng MCY","Freedman BI","Mitchell P","Jensen RA","Li X","Wong TY","Kuo JZ","Penman A","Craig JE","Susarla G","Igo RP"],"additional_accession":[]},"is_claimable":false,"name":"Gene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy.","description":"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 D","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jan","modification":"2026-05-08T02:07:44.598Z","creation":"2025-02-18T22:34:43.421Z"},"accession":"S-EPMC8678352","cross_references":{"pubmed":["34166655"],"doi":["10.1016/j.ajo.2021.06.014"]}}