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标题：Analysis of the association between rs12917707 and rs11864909 single nucleotide polymorphisms in the region of the uromoduline gene and chronic kidney disease – a family-based study
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作者：Joanna Żywiec ; Katarzyna Kiliś-Pstrusińska ; Maciej Tomaszewski 等
期刊名称：Annals of Agricultural and Environmental Medicine
印刷版ISSN：1232-1966
电子版ISSN：1898-2263
出版年度：2017
卷号：24
期号：3
页码：464-466
DOI：10.5604/12321966.1232091
出版社：Institute of Agricultural Medicine in Lublin
摘要：Chronic kidney disease (CKD) is an important challange for healthcare systems wordwide because of its high prevalenceand serious late complications. The results of recent studies suggest an association between CKD development and geneticvariation within the uromodulin gene (UMOD). The aim of this study was to investigate associations between two commonsingle nucleotide polymorphisms – rs12917707 and rs11864909, located in the region of UMOD and chronic renal disease.The study group consisted of 109 patients with chronic kidney disease, caused by chronic renal glomerulonephritis orchronic tubulointerstitial nephritis, and 109 pairs of their biological parents. Genotyping for rs12917707 and rs11864909was carried out using the TaqMan Pre-designed SNP Genotyping Assay. In the transsmission disequilibrium test, alleleC of rs11864909 was preferentialy transmitted from parents to the children with chronic tubulointerstinal nephritis. Thers12917707 was not associated with CKD. Neither of the investigated polymorphisms was associated with the progressionof chronic kidney disease. The obtained results suggest an association of rs11864909 with chronic kidney disease secondaryto chronic tubulointerstinal nephritis.
关键词：chronic kidney disease; genetic association; family-based study; UMOD polymorphism