Pd63-05 Decoding the Intricacies of Chronic Kidney Disease: Exploring Gtf21 Polymorphisms as Potential Biomarkers in a Collaborative Multicentric Cross-Sectional Study

You have accessJournal of UrologyInfections/Inflammation/Cystic Disease of the Genitourinary Tract: Kidney & Bladder II (PD63)1 May 2024PD63-05 DECODING THE INTRICACIES OF CHRONIC KIDNEY DISEASE: EXPLORING GTF21 POLYMORPHISMS AS POTENTIAL BIOMARKERS IN A COLLABORATIVE MULTICENTRIC CROSS-SECTIONAL STUDY Kevin Lu, Kun-Yuan Chiu, I-Chieh Chen, Guan-Cheng Lin, Jian-Ri Li, and Chen-Li Cheng Kevin LuKevin Lu , Kun-Yuan ChiuKun-Yuan Chiu , I-Chieh ChenI-Chieh Chen , Guan-Cheng LinGuan-Cheng Lin , Jian-Ri LiJian-Ri Li , and Chen-Li ChengChen-Li Cheng View All Author Informationhttps://doi.org/10.1097/01.JU.0001009384.23104.ca.05AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Chronic kidney disease (CKD) presents a significant global health challenge, yet its underlying molecular mechanisms remain poorly elucidated. Genetic factors play a pivotal role, and both phenome-wide association studies (PheWAS) and genome-wide association studies (GWAS) have provided insights into CKD's genetic architecture, shared variants, and underlying biological pathways. METHODS: Leveraging data from a multicenter collaborative precision medicine cohort, we conducted a retrospective prospective cross-sectional investigation. Participants with comprehensive phenotypic information and genotyping data were meticulously chosen. Through the curated Biobank version 2 array, we executed GWAS and PheWAS analyses to identify genetic variants associated with CKD and explore their intricate phenotypic correlations. RESULTS: Among 58,091 volunteers, we successfully enrolled 8,420 participants. Those with CKD exhibited a heightened prevalence of metabolic, cardiovascular, autoimmune, and nephritic disorders. Our genetic scrutiny unveiled two closely linked single nucleotide polymorphisms (SNPs) - GTF2I rs117026326 and rs73366469 - both significantly linked with CKD (r2=0.64). Further exploration revealed compelling connections between these SNPs and diverse kidney-related ailments. Notably, the CKD group displayed an elevated proportion of individuals harboring specific genotypes (CT/TT for rs117026326 and CT/CC for rs73366469), potentially indicating their involvement in CKD susceptibility (p<0.001). Intriguingly, these genotypes were linked to an earlier onset of CKD. Rigorous logistic regression analysis affirmed the independent association of these genetic variants with CKD. Subgroup investigation based on estimated glomerular filtration rate (eGFR) unveiled an escalated CKD risk among carriers of the rs117026326 CT/TT genotypes (OR=1.15, 1.32; p<0.001, p=0.02, respectively) and the rs73366469 CT/CC genotypes (OR=1.13, 1.31; p<0.001, p=0.0049, respectively). Additionally, men demonstrated a higher CKD risk than women, particularly at lower eGFR levels (OR=1.35, p<0.001). CONCLUSIONS: Our investigation uncovers compelling associations between genetic variants GTF2I and CKD susceptibility, significantly enhancing our comprehension of CKD development and fostering avenues for personalized prevention and management strategies. Further comprehensive research is warranted to validate and extend these findings across diverse populations. Source of Funding: The study received no external funding © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e1293 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Kevin Lu More articles by this author Kun-Yuan Chiu More articles by this author I-Chieh Chen More articles by this author Guan-Cheng Lin More articles by this author Jian-Ri Li More articles by this author Chen-Li Cheng More articles by this author Expand All Advertisement PDF downloadLoading ...