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Genetic information is of the utmost importance in understanding pathogenesis of ADPKD. Therefore, this study aimed to demonstrate the genetic characteristics of ADPKD and their effects on renal function in 749 Korean ADPKD subjects from 524 unrelated families. Genetic studies of <jats:italic>PKD1\/2<\/jats:italic> were performed using targeted exome sequencing combined with Sanger sequencing in exon 1 of the <jats:italic>PKD1<\/jats:italic> gene and a multiple ligation probe assay. The mutation detection rate was 80.7% (423\/524 families, 331 mutations) and 70.7% was novel. <jats:italic>PKD1<\/jats:italic> protein-truncating (<jats:italic>PKD1<\/jats:italic>-PT) genotype was associated with younger age at diagnosis, larger kidney volume, lower renal function compared to <jats:italic>PKD1<\/jats:italic>\u00a0non-truncating and <jats:italic>PKD2<\/jats:italic> genotypes. The <jats:italic>PKD1<\/jats:italic> genotype showed earlier onset of ESRD compared to <jats:italic>PKD2<\/jats:italic> genotype (64.9 vs. 72.9 years old, P\u2009&lt;\u20090.001). In frailty model controlled for age, gender, and familial clustering effect, <jats:italic>PKD2<\/jats:italic> genotype had 0.2 times lower risk for reaching ESRD than <jats:italic>PKD1<\/jats:italic>-PT genotype (p\u2009=\u20090.037). In conclusion, our results suggest that genotyping can contribute to selecting rapid progressors for new emerging therapeutic interventions among Koreans.<\/jats:p>","DOI":"10.1038\/s41598-019-52474-1","type":"journal-article","created":{"date-parts":[[2019,11,18]],"date-time":"2019-11-18T11:02:12Z","timestamp":1574074932000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing"],"prefix":"10.1038","volume":"9","author":[{"given":"Hyunsuk","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayne Cho","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyunjin","family":"Ryu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyunho","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6230-1405","authenticated-orcid":false,"given":"Hyun-Seob","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jongho","family":"Heo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayoung K. 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