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dc.contributor.authorMota Zamorano, Sonia
dc.contributor.authorGonzález, Luz María
dc.contributor.authorRobles, Nicolás Roberto
dc.contributor.authorValdivielso Revilla, José Manuel
dc.contributor.authorCancho, Bárbara
dc.contributor.authorLópez Gómez, Juan
dc.contributor.authorGervasini, Guillermo
dc.description.abstractDiabetic kidney disease (DKD) has been pointed out as a prominent cause of chronic andend-stage renal disease (ESRD). There is a genetic predisposition to DKD, although clinically relevantloci are yet to be identified. We utilized a custom target next-generation sequencing 70-gene panelto screen a discovery cohort of 150 controls, DKD and DKD-ESRD patients. Relevant SNPs for thesusceptibility and clinical evolution of DKD were replicated in an independent validation cohortof 824 controls and patients. A network analysis aiming to assess the impact of variability alongspecific pathways was also conducted. Forty-eight SNPs displayed significantly different frequenciesin the study groups. Of these, 28 withp-values lower than 0.01 were selected for replication.MYH9rs710181 was inversely associated with the risk of DKD (OR = 0.52 (0.28–0.97),p= 0.033), whilstSOWAHBrs13140552 andCNDP1rs4891564 were not carried by cases or controls, respectively(p= 0.044 and 0.023). In addition, theRGMArs1969589 CC genotype was significantly correlatedwith lower albumin-to-creatinine ratios in the DKD patients (711.8±113.0 vs. 1375.9±474.1 mg/gfor TC/TT; mean difference = 823.5 (84.46–1563.0);p= 0.030). No biological pathway stood out asmore significantly affected by genetic variability. Our findings reveal new variants that could beuseful as biomarkers of DKD onset and/or evolution.ca_ES
dc.relation.isformatofReproducció del document publicat a:
dc.relation.ispartofGenes, 2021, vol. 12, núm. 12, p. 1-13ca_ES
dc.rightscc-by (c)Authors, 2021ca_ES
dc.subjectChronic kidney diseaseca_ES
dc.subjectDiabetes kidney diseaseca_ES
dc.subjectSingle nucleotide polymorphismsca_ES
dc.titleA Custom Target Next-Generation Sequencing 70-Gene Panel and Replication Study to Identify Genetic Markers of Diabetic Kidney Diseaseca_ES

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