Methylenetetrahydrofolate reductase gene C677T polymorphism, plasma homocysteine and folate in end-stage renal disease dialysis and non-dialysis patients.
BACKGROUND
It has been recently suggested that the presence of the methylenetetrahydrofolate reductase gene 677TT genotype is associated with younger age at initiation of dialysis, thus raising a hypothesis that younger renal patients carrying the TT genotype are at higher risk to develop end-stage renal disease. The aim of this study was to test the association between the C677T polymorphism and the presence of end-stage renal disease using a family-based study design.


METHODS
C677T polymorphism was genotyped in a group of 247 family trios (offspring affected with end-stage renal disease, dialysed or conservatively treated, and both parents). Transmission/disequilibrium test (TDT) was used to evaluate allele transmission from heterozygous parents to affected offspring.


RESULTS
The TDT analysis revealed no significant deviation in the transmission of the MTHFR C677T alleles to CRF patients (51 vs. 49% for the C allele and T allele transmission, respectively). We observed a significant relationship between MTHFR genotypes and total plasma homocysteine (tHcy), as well as folate concentration. Also, plasma tHcy and folate were negatively correlated.


CONCLUSIONS
Our results did not show any association between the MTHFR reductase C677T polymorphism and the increased risk of the development of end-stage renal disease. Whether this polymorphism contributes to the faster rate of decline of renal function in renal patients, must be evaluated further.
Department and Clinic of Internal Medicine, Diabetology and Nephrology, Silesian School of Medicine, Zabrze, Poland. marcin.zychma@post.pl
Marcin J
MJ
Zychma
Janusz
J
Gumprecht
Wladyslaw
W
Grzeszczak
Ewa
E
Zukowska-Szczechowska
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D018450:Disease Progression; D005260:Female; D005492:Folic Acid / Q000097:blood*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000097:blood* / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D006435:Renal Dialysis; D012307:Risk Factors
D006710:Homocysteine; D005492:Folic Acid; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)