Patterns of co-occurrence of three single nucleotide polymorphisms of the 5,10-methylenetetrahydrofolate reductase gene in kidney transplant recipients

European Journal of Clinical Investigation
W C WinkelmayerM Födinger

Abstract

Recently, a new mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) encoding gene was first described (1793G > A). Only few reports have studied the prevalence of this polymorphism, especially in combination with other MTHFR mutations (677C > T, 1298A > C). We cross-sectionally identified the novel MTHFR 1793G > A polymorphism in 730 kidney transplant recipients. MTHFR 677C > T and 1298A > C were also assessed and the frequency of each was described individually as well as in cross-tabulation with the other MTHFR genotypes. The expected number of patients for each MTHFR genotype combination was calculated and contrasted with the observed numbers. Fisher's exact test was used for statistical inference. The allelic frequency of MTHFR 1793G > A was 0.052. Seventy-two patients (9.9%) were heterozygous and two patients (0.3%) were homozygous. From the cross-tabulations, we identified 53 patients (expected: 33.6) with the MTHFR 1298AC/1793GA genotype and 17 patients (expected: 6.7) with the MTHFR 1298CC/1793GA genotype. Furthermore, we found two patients with double homozygosity for MTHFR 1793G > A and MTHFR 1298A > C (MTHFR 1793AA/1298CC genotype). The frequencies of these genotype combinations were substantially larger...Continue Reading

References

Jul 29, 1998·Mammalian Genome : Official Journal of the International Mammalian Genome Society·P GoyetteR Rozen
Apr 15, 1999·Journal of the American Society of Nephrology : JASN·A G Bostom, B F Culleton
Aug 7, 1999·Lancet·G J Hankey, J W Eikelboom
Sep 27, 2000·Journal of the American Society of Nephrology : JASN·Manuela FödingerGere Sunder-Plassmann
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Oct 9, 2001·American Journal of Human Genetics·K A VolcikH Northrup
Apr 17, 2004·Kidney International·István KocsisBarna Vásárhelyi

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Citations

Jan 9, 2010·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·A Joan LevineRobert W Haile
Sep 28, 2007·Molecular and Cellular Biochemistry·Aruna PoduriMadhu Khullar

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