Šalamon Špela, Bevc Sebastjan, Ekart Robert, Hojs Radovan, Potočnik Uroš
Center for Human Molecular Genetics and Pharmacogenomics, Faculty of Medicine, University of Maribor, Taborska ul. 8, 2000 Maribor, Slovenia.
Department of Nephrology, Clinic for Internal Medicine, University Medical Centre Maribor, Ljubljanska Ulica 5, 2000 Maribor, Slovenia.
Genes (Basel). 2021 May 28;12(6):834. doi: 10.3390/genes12060834.
The ten most statistically significant estimated glomerular filtration rate (eGFRcrea)-associated loci from genome-wide association studies (GWAs) are tested for associations with chronic kidney disease (CKD) in 208 patients, including dialysis-independent CKD and dialysis-dependent end-stage renal disease (kidney failure). The allele A of intergenic SNP rs2453533 (near ) is more frequent in dialysis-independent CKD patients ( = 135, adjusted = 0.020) but not dialysis-dependent kidney failure patients ( = 73) compared to healthy controls ( = 309). The allele C of intronic SNP rs4293393 () is more frequent in healthy controls (adjusted = 0.042) than in CKD patients. The Allele T of intronic SNP rs9895661 () is associated with decreased eGFRcys (adjusted = 0.001) and eGFRcrea (adjusted = 0.017). Our results provide further evidence of a genetic difference between dialysis-dialysis-independent CKD and dialysis-dependent kidney failure, and add the gene locus to the list of loci associated only with dialysis-independent CKD. risk allele carriers in the dialysis-independent group may have a genetic susceptibility to higher creatinine production rather than increased serum creatinine due to kidney malfunction, and therefore, do not progress to dialysis-dependent kidney failure. When using eGFRcrea for CKD diagnosis, physicians might benefit from information about creatinine-increasing loci.
对来自全基因组关联研究(GWAs)的十个统计学上最显著的估计肾小球滤过率(eGFRcrea)相关基因座,在208例患者中进行了与慢性肾脏病(CKD)的关联性检测,这些患者包括非透析依赖性CKD和透析依赖性终末期肾病(肾衰竭)。基因间单核苷酸多态性rs2453533(附近)的A等位基因在非透析依赖性CKD患者中更为常见(n = 135,校正P = 0.020),但与健康对照(n = 309)相比,在透析依赖性肾衰竭患者(n = 73)中并非如此。内含子单核苷酸多态性rs4293393()的C等位基因在健康对照中(校正P = 0.042)比在CKD患者中更为常见。内含子单核苷酸多态性rs9895661()的T等位基因与eGFRcys降低(校正P = 0.001)和eGFRcrea降低(校正P = 0.017)相关。我们的结果进一步证明了非透析依赖性CKD和透析依赖性肾衰竭之间存在遗传差异,并将该基因座添加到仅与非透析依赖性CKD相关的基因座列表中。非透析依赖性组中的风险等位基因携带者可能对较高的肌酐生成具有遗传易感性,而非因肾功能不全导致血清肌酐升高,因此不会进展为透析依赖性肾衰竭。当使用eGFRcrea进行CKD诊断时,医生可能会从有关肌酐升高基因座的信息中受益。