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RESEARCH PAPER
 
CC BY-NC-ND 3.0
 
 

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

Joanna Żywiec 1  ,  
 
1
Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland
2
Department of Paediatric Nephrology, Wroclaw Medical University, Poland
3
Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom
Ann Agric Environ Med 2017;24(3):464–466
KEYWORDS:
ABSTRACT:
Chronic kidney disease (CKD) is an important challange for healthcare systems wordwide because of its high prevalence and serious late complications. The results of recent studies suggest an association between CKD development and genetic variation within the uromodulin gene (UMOD). The aim of this study was to investigate associations between two common single 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 or chronic tubulointerstitial nephritis, and 109 pairs of their biological parents. Genotyping for rs12917707 and rs11864909 was carried out using the TaqMan Pre-designed SNP Genotyping Assay. In the transsmission disequilibrium test, allele C of rs11864909 was preferentialy transmitted from parents to the children with chronic tubulointerstinal nephritis. The rs12917707 was not associated with CKD. Neither of the investigated polymorphisms was associated with the progression of chronic kidney disease. The obtained results suggest an association of rs11864909 with chronic kidney disease secondary to chronic tubulointerstinal nephritis
CORRESPONDING AUTHOR:
Joanna Żywiec   
Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland
 
REFERENCES:
1. Zhang QL, Rothenbacher D. Prevalence of chronic kidney disease in population-based studies: systematic review. BMC Public Health. 2008; 8: 117.
2. Evans PD, Taal MW. Epidemiology and causes of chronic kidney disease. Medicine 2011; 39(7): 402–406.
3. Ayodele OE, Alebiosu CO. Burden of chronic kidney disease: an international perspective. Adv Chronic Kidney Dis. 2010; 17(3): 215–224.
4. McClellan WM, Flanders WD. Risk Factors for Progressive Chronic Kidney Disease. J Am Soc Nephrol. 2003; 14 Suppl. 2: S65–S70.
5. O’Seaghdha CM, Fox CS. Genetics of chronic kidney disease. Nephron Clin Pract. 2011; 118(1): c55–63.
6. Köttgen A, Glazer NL, Dehghan A, Hwang SJ, Katz R, Li M, et al. Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet. 2009; 41(6): 712–717.
7. Serafini-Cessi F, Malagolini N, Cavallone D. Tamm-Horsfall glycoprotein: biology and clinical relevance. Am J Kidney Dis. 2003; 42(4): 658–676.
8. Lhotta K. Uromodulin and chronic kidney disease. Kidney Blood Press Res. 2010; 33(5): 393–398.
9. El-Achkar TM, Wu XR. Uromodulin in kidney injury: an instigator, bystander, or protector?, Am J Kidney Dis. 2012; 59(3): 452–461.
10. Gudbjartsson DF, Holm H, Indridason OS, Thorleifsson G, Edvardsson V, Sulem P, et al. Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. PLoS Genet. 2010; 6, 7,e1001039.
11. http://www.ncbi.nlm.nih.gov/gene/204474 (accessed 14.11.2013).
12. van Lith M, Hartigan N, Hatch J, Benham AM. PDILT, a divergent testis-specific protein disulfide isomerase with a non-classical SXXC motif that engages in disulfide-dependent interactions in the endoplasmic reticulum. J Biol Chem. 2005; 280(2): 1376–1383.
13. Oka OB, Bulleid NJ. Forming disulfides in the endoplasmic reticulum. Biochim Biophys Acta 2013; 1833: 2425–2429.
14. Yilmaz A, Grotewold E. Components and mechanisms of regulation of gene expression. Methods Mol Biol. 2010; 674: 23–32.
15. Okada Y, Sim X, Go MJ, Wu JY, Gu D, Takeuchi F, et al. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet. 2012; 44(8): 904–909.
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