{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T04:18:01Z","timestamp":1780373881344,"version":"3.54.1"},"reference-count":23,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,4,13]],"date-time":"2015-04-13T00:00:00Z","timestamp":1428883200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000361","name":"Diabetes UK","doi-asserted-by":"publisher","award":["BDA 10\/0004154"],"award-info":[{"award-number":["BDA 10\/0004154"]}],"id":[{"id":"10.13039\/501100000361","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01_DK081923"],"award-info":[{"award-number":["R01_DK081923"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Northern Ireland Research & Development Office","award":["."],"award-info":[{"award-number":["."]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Diabet. Med."],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To evaluate the association with diabetic kidney disease of single nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) that may contribute to mitochondrial dysfunction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The mitochondrial genome and 1039 nuclear genes that are integral to mitochondrial function were investigated using a case (n\u00a0=\u00a0823 individuals with diabetic kidney disease) vs. control (n\u00a0=\u00a0903 individuals with diabetes and no renal disease) approach. All people included in the analysis were of white European origin and were diagnosed with Type 1 diabetes before the age of 31\u00a0years. Replication was conducted in 5093 people with similar phenotypes to those of the discovery collection. Association analyses were performed using the <jats:sc>plink<\/jats:sc> genetic analysis toolset, with adjustment for relevant covariates.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 25 <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s were evaluated in the mitochondrial genome, but none were significantly associated with diabetic kidney disease or end\u2010stage renal disease. A total of 38 <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s in nuclear genes influencing mitochondrial function were nominally associated with diabetic kidney disease and 16 <jats:styled-content style=\"fixed-case\">SNPS<\/jats:styled-content> were associated with end\u2010stage renal disease, secondary to diabetic kidney disease, with meta\u2010analyses confirming the same direction of effect. Three independent signals (seven <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) were common to the replication data for both phenotypes with Type 1 diabetes and persistent proteinuria or end\u2010stage renal disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results suggest that <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s in nuclear genes that influence mitochondrial function are significantly associated with diabetic kidney disease in a white European population.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dme.12763","type":"journal-article","created":{"date-parts":[[2015,3,27]],"date-time":"2015-03-27T22:30:54Z","timestamp":1427495454000},"page":"1104-1109","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Genetic risk factors affecting mitochondrial function are associated with kidney disease in people with Type 1 diabetes"],"prefix":"10.1111","volume":"32","author":[{"given":"E. J.","family":"Swan","sequence":"first","affiliation":[{"name":"Centre for Public Health Queen's University of Belfast Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. M.","family":"Salem","sequence":"additional","affiliation":[{"name":"Program in Medical and Population Genetics Broad Institute Cambridge MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Sandholm","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Institute of Genetics Folkh\u00e4lsan Research Centre Helsinki Finland"},{"name":"Department of Medicine Division of Nephrology Helsinki University Central Hospital Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Tarnow","sequence":"additional","affiliation":[{"name":"Nordsjaellands Hospital Hilleroed, Denmark and Health Aarhus University Aarhus Denmark"},{"name":"Steno Diabetes Centre Gentofte Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Rossing","sequence":"additional","affiliation":[{"name":"Steno Diabetes Centre Gentofte Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Lajer","sequence":"additional","affiliation":[{"name":"Steno Diabetes Centre Gentofte Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. H.","family":"Groop","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Institute of Genetics Folkh\u00e4lsan Research Centre Helsinki Finland"},{"name":"Department of Medicine Division of Nephrology Helsinki University Central Hospital Helsinki Finland"},{"name":"Baker IDI Heart and Diabetes Institute Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. P.","family":"Maxwell","sequence":"additional","affiliation":[{"name":"Centre for Public Health Queen's University of Belfast Belfast UK"},{"name":"Regional Nephrology Unit Belfast City Hospital Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. J.","family":"McKnight","sequence":"additional","affiliation":[{"name":"Centre for Public Health Queen's University of Belfast Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the GENIE Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,13]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"2014 National Institutes of Health National Institute of Diabetes and Digestive and Kidney Diseases Bethesda MD U.S. Renal Data System U Annual Data Report: Atlas of Chronic Kidney Disease and End\u2010Stage Renal Disease in the United States"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.02510213"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ackd.2014.03.010"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bmb\/ldt017"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0041125"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabres.2008.12.004"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002921"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.06.016"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki079"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks1066"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1196"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.12.010"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.10.010"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31436"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.11.014"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4614-3573-0_14"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.191321998"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010040367"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1475-2840-12-142"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0036962"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.21833"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004799"}],"container-title":["Diabetic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fdme.12763","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dme.12763","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/dme.12763","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dme.12763","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T02:02:13Z","timestamp":1696298533000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dme.12763"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,13]]},"references-count":23,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1111\/dme.12763"],"URL":"https:\/\/doi.org\/10.1111\/dme.12763","archive":["Portico"],"relation":{},"ISSN":["0742-3071","1464-5491"],"issn-type":[{"value":"0742-3071","type":"print"},{"value":"1464-5491","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,13]]},"assertion":[{"value":"2015-03-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-04-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}