rs112671796 - TPPP

Magnitude 2.2 · 1 study on file

Reported associations

• Novel Genetic Variants Associated with Chronic Kidney Disease Progression. - Journal of the American Society of Nephrology : JASN (2023) · Han M, Moon S, Lee S, Kim K, An WJ, Ryu H, Kang E, Ahn JH, Sung HY, Park YS, Lee SE, Lee SH, Jeong KH, Ahn C, Kelly TN, Hsu JY, Feldman HI, Park SK, Oh KH · PubMed 36720675

  eGFR slope has been used as a surrogate outcome for progression of CKD. However, genetic markers associated with eGFR slope among patients with CKD were unknown. We aimed to identify genetic susceptibility loci associated with eGFR slope. A two-phase genome-wide association study identified single nucleotide polymorphisms (SNPs) in TPPP and FAT1-LINC02374 , and 22 of them were used to derive polygenic risk scores that mark the decline of eGFR by disrupting binding of nearby transcription factors. This work is the first to identify the impact of TPPP and FAT1-LINC02374 on CKD progression, providing predictive markers for the decline of eGFR in patients with CKD. The incidence of CKD is associated with genetic factors. However, genetic markers associated with the progression of CKD have not

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