What is it about?

Chronic kidney disease (CKD) is a major global health challenge, but we still have limited knowledge about its underlying causes. Genetic factors are known to contribute to CKD susceptibility, progression, and response to treatment. To better understand the genetic basis of CKD, we have used powerful techniques called phenome-wide association studies (PheWAS) and genome-wide association studies (GWAS). By combining these approaches, we aimed to uncover the genetic associations and markers related to CKD using data from the Taiwan Precision Medicine Initiative cohort. The GWAS analysis identified two genetic variants, known as GTF2I rs117026326 and rs73366469, that showed a connection to CKD. Additionally, the PheWAS analysis revealed significant associations between these variants and kidney-related diseases. These findings highlight the potential role of GTF2I genetic variants in the development and progression of CKD. By integrating clinical and genetic information, this study improves our understanding of CKD and its implications for patient care.

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Why is it important?

Question: What are the genetic factors and their phenotypic associations in CKD? Findings: In this retrospective prospective cross-sectional study, the GWAS identified two significant SNPs, GTF2I rs117026326 and rs73366469, strongly linked to CKD. PheWAS analysis revealed these SNPs were associated with kidney-related diseases. Furthermore, individuals with these SNPs developed CKD at an earlier age. Meaning: The identified SNPs, GTF2I rs117026326 and rs73366469, may serve as potential genetic markers for CKD susceptibility and early detection, and might contribute to personalized treatment strategies and improved patient care in the future.

Perspectives

Writing this article was a great pleasure as it has co-authors with whom I have had long standing collaborations. This study enhance our understanding of CKD's genetic basis and offer valuable insights for personalized prevention and management strategies in regional population. Future research would focus on replicating and validating these genetic variants, exploring their functional implications, and examining their interactions with environmental factors. Collaborative efforts across diverse populations are needed to account for CKD's genetic and phenotypical heterogeneity.

Attending staff Kevin Lu
Kaohsiung Medical University Hospital

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This page is a summary of: Identification of GTF2I Polymorphisms as Potential Biomarkers for Chronic Kidney Disease in the Han Chinese Population, Kidney360, July 2024, Wolters Kluwer Health,
DOI: 10.34067/kid.0000000000000517.
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