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Recently, intravitreal anti-VEGF injection has been used as a first-line treatment. This study analyzed the association between the genetic profile of patients with DME and their response to treatment. Intravitreal anti-VEGF injections were administered monthly for three months to Korean patients diagnosed with DME, who were classified into two groups depending on whether they responded to anti-VEGF therapy or showed recurrence within six months. Peripheral blood samples were used for genetic analyses. Genome-wide association analysis results sowed that\u00a0the\u00a0genes <jats:italic>DIRC3<\/jats:italic> on chromosome 2 (rs16857280, <jats:italic>p<\/jats:italic>\u2009=\u20091.2\u2009\u00d7\u200910<jats:sup>\u20136<\/jats:sup>), <jats:italic>SLCO3A1<\/jats:italic> on chromosome 15 (rs12899055, <jats:italic>p<\/jats:italic>\u2009=\u20092.5\u2009\u00d7\u200910<jats:sup>\u20136<\/jats:sup>), and <jats:italic>RAB2A<\/jats:italic> on chromosome 8 (rs2272620, <jats:italic>p<\/jats:italic>\u2009=\u20094.6\u2009\u00d7\u200910<jats:sup>\u20136<\/jats:sup>) were associated with treatment response to intravitreal anti-VEGF injection. <jats:italic>SLC35F1<\/jats:italic>, <jats:italic>TMEM132D<\/jats:italic>, <jats:italic>KIAA0368<\/jats:italic>, <jats:italic>HPCAL1<\/jats:italic>, <jats:italic>IGF2BP3<\/jats:italic>, <jats:italic>SPN2S<\/jats:italic>, <jats:italic>COL23A1<\/jats:italic>, and <jats:italic>CREB5<\/jats:italic> were also related to treatment response (<jats:italic>p<\/jats:italic>\u2009&lt;\u20095.0\u2009\u00d7\u200910<jats:sup>\u20135<\/jats:sup>). Using the KEGG pathway analysis, <jats:italic>RAB2A<\/jats:italic> and <jats:italic>CREB5<\/jats:italic> were found to be associated with AMPK signaling related to VEGF (<jats:italic>p<\/jats:italic>\u2009=\u20090.018). The identified genetic biomarkers can elucidate the factors affecting patient response to intravitreal anti-VEGF injection and help select appropriate therapeutic strategy.<\/jats:p>","DOI":"10.1038\/s41598-022-26048-7","type":"journal-article","created":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:02:48Z","timestamp":1672311768000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genome-wide association study of the response of patients with diabetic macular edema to intravitreal Anti-VEGF injection"],"prefix":"10.1038","volume":"12","author":[{"given":"Eun Hee","family":"Hong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoseok","family":"Yeom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyo Seon","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong Eun","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong Un","family":"Shin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"So-Young","family":"Bang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heeyoon","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,12,29]]},"reference":[{"key":"26048_CR1","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1080\/09286580701396720","volume":"14","author":"BE Klein","year":"2007","unstructured":"Klein, B. 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