A new PCR‐SSP typing method for six single‐nucleotide polymorphisms impairing the blood‐clotting cascade as well as T‐cell stimulation

Abstract

Single-nucleotide polymorphisms (SNPs) within the genes of factor V (FV) (G1691A; exon 10), prothrombin (FII) (G20210A; 3'untranslated - region) and methylenetetrahydrofolate reductase (MTHFR) (C677T; exon 4) are associated with hypercoagulability, and systematic screening of individuals being at higher risk of thrombosis has been suggested. SNPs in the 2q33 region within the genes of CD28 (+17T/C; intron 3) and CTLA4 (-318C/T; promoter and +49A/G; exon 1) are likely to affect T-cell proliferation and antigen presentation signaling, which may lead to altered sensitivity of allograft or self-tissue recognition and affect the incidence of autoimmune diseases. We developed primers that allow specific amplification of these six SNPs at test conditions identical with those used for HLA typing with the CTS PCR-SSP reagents. One hundred ninety-six healthy German Caucasian individuals were tested for the six SNPs. The genotype frequencies for all SNPs were in Hardy-Weinberg equilibrium. There was no significant difference in the distribution of genotypes when compared to other published studies in which these SNPs were tested. The described PCR-SSP method can be used to screen large numbers of patients for these SNPs.

Genetic polymorphisms of the T‐cell coreceptors CD28 and CTLA‐4 in Afro‐ and Euro‐Brazilians

“…In Euro‐Brazilians, the frequency was lower in our population (0.19) than in the State of São Paulo (0.27; Guzman et al. , 2005) and was very close to that reported for Germans (0.21; Meyer et al. , 2005) and Belgians (0.19; van Veen et al.…”

No Association of Factor V Leiden, Prothrombin G20210A, and MTHFR C677T Gene Polymorphisms With Kidney Allograft Survival: A Multicenter Study

“…The distribution of alleles and genotypes of the polymorphisms factor V Leiden G1691A, prothombin G20210A, and MTHFR C677T (Table 1) were as anticipated, based on previous studies in Caucasian individuals (6,10,(17)(18)(19)(20). There was no difference between the allele frequencies observed in primary and retransplant patients.…”

“…Polymerase chain reaction-sequence specific primers typing of the SNPs FVL G1691A, FII G20210, and MTHFR C677T was conducted as previously reported by Meyer et al (10). Subsequent to typing, allele and genotype frequencies were calculated manually.…”

Erratum

“…Since the publication of the following article [1], the authors have noticed that there is a typographical error in the name of the third author. The author's name was given as T. Hien.…”