MTHFR and HFE, but Not Preproghrelin and LBP, Polymorphisms as Risk Factors for All-Cause End-Stage Renal Disease Development

作者：Bloudickova S^*; Kuthanova L; Hubacek J A

来源：Folia Biologica, 2014, 60(2): 83-88.

• chronic renal failure
• end-stage renal disease
• haemodialysis
• polymorphism
• lipopolysaccharide-binding protein
• ghrelin
• HFE
• MTHFR
• single-nucleotide polymorphism

End-stage renal disease (ESRD) is a serious health problem worldwide. The high prevalence of cardiovascular diseases and chronic inflammation remains a major cause of morbidity and mortality in haemodialysed patients. Beside some external factors, genetic predisposition both to renal failure and poor prognosis has been assumed. We have collected a total of 1,014 haemodialysed patients and 2,559 unrelated healthy Caucasians. Single-nucleotide polymorphisms (SNPs) in genes for preproghrelin (GHRL), lipopolysaccharide-binding protein (LBP), HFE and MTHFR were genotyped. In the group of patients, significantly more carriers presented the MTHFR T667T (P = 0.002) and HFE Asp63Asp (P = 0.001) and Cys282Cys (P = 0.01) genotypes. The frequencies of individual SNPs within GHRL and LBP genes did not differ between the patients and controls. The trends in genotype frequencies did not differ between the subgroups of patients with different time on haemodialysis. Common variants in MTHFR and HFE could be a risk factor for all-cause ESRD development, but are not predictors for the survival on haemodialysis.

• 出版日期2014