Abstract
The aim was to study the genetic variability, haplotype profile and ethnic differences of MDR1 polymorphisms in healthy Roma and Hungarian populations, and to compare our results with other populations available from the literature. A total of 503 Hungarian and 465 Roma healthy subjects were genotyped for the C1236T, G2677T/A and C3435T variants by PCR-RFLP assay. Differences were found in the MDR1 1236 CC (20.7 vs. 33.2%) and TT genotypes (30.8 vs. 21.9%), in T allele frequency (0.551 vs. 0.443) (p<0.002), and in 3435T allele frequency (0.482 vs. 0.527, p<0.04). Futhermore, the frequency of CGC, CGT, CTT haplotypes was significantly higher in Hungarian population than in Roma (41.4 vs. 35.3%, 9.04 vs. 6.02%, 2.88 vs. 1.08%, respectively; p<0.009), whereas the frequency of TGC and TTC haplotypes was higher in Roma population than in Hungarian (7.31 vs. 1.68%, 6.67 vs. 2.08%, respectively; p<0.001). The prevalence of MDR1 polymorphisms in the Hungarian population is similar to other European populations, however, some differences were observed in the haplotype structures. Contrary, the Roma population differs from Hungarians, from Caucasians and from populations from India in the incidence of MDR1 common variants and haplotypes.
