Increased prevalence of functional minor allele variants of drug metabolizing CYP2B6 and CYP2D6 genes in Roma population samples.
BACKGROUND
Cytochrome P450 2B6 and 2D6 are important enzymes in human drug metabolism. These phase I enzymes are known to contribute the biotransformation of clinically important pharmaceuticals, including antidepressants, anticancer and anxiolytic drugs. The aim of this work was to determine the pharmacogenetic profile of CYP2B6 and CYP2D6 in Roma and Hungarian population samples.


METHODS
A study population of 426 healthy Roma and 431 healthy Hungarian subjects were characterized for CYP2B6 c.516G>T, CYP2D6 c.100C>T and c.1846G>A polymorphisms using predesigned TaqMan Drug Metabolism Genotyping Real Time-PCR assays.


RESULTS
We found significant differences in the presence of CYP2B6 c.516G>T (p<0.001), CYP2D6 c.100C>T (p=0.003) and c.1846G>A (p=0.022) between Hungarian and Roma population. The 516T allele frequency was 33.6% in the Roma group, 21.4% in Hungarians, whereas the minor CYP2D6 100T allele was present in 26.6% in Romas and 20.5% in Hungarians. The 1864A allele frequency was 22.5% in Roma and 18.1% in Hungarian samples. A significant increase was found in genotype frequencies for homozygous minor allele carrier Roma participants compared to Hungarians for CYP2B6 516TT and CYP2D6 100TT. The following CYP2D6 genotypes were identified in Roma samples: *1/*1 (55.4%), *1/*4 (2.1%), *1/*10 (3.1%), *4/*10 (38.7%), *10/*10 (0.7%).


CONCLUSIONS
Our results demonstrate an increased minor allele frequency for CYP2B6 and CYP2D6 polymorphisms in Roma samples that implies clinical significance in this ethnic group.
B.A.Z. County Hospital and University Teaching Hospital, Miskolc, Hungary. Electronic address: weber.onkorad@bazmkorhaz.hu.
Agnes
A
Weber
Department of Medical Genetics, University of Pecs, Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Pecs, Hungary. Electronic address: szalai.renata@pte.hu.
Renata
R
Szalai
Department of Medical Genetics, University of Pecs, Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Pecs, Hungary. Electronic address: sipeky.csilla@pte.hu.
Csilla
C
Sipeky
Department of Medical Genetics, University of Pecs, Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Pecs, Hungary. Electronic address: magyari.lili@pte.hu.
Lili
L
Magyari
Department of Medical Genetics, University of Pecs, Pecs, Hungary. Electronic address: kioll@freemail.hu.
Marton
M
Melegh
Department of Medical Genetics, University of Pecs, Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Pecs, Hungary. Electronic address: jaromi.luca@pte.hu.
Luca
L
Jaromi
Department of Medical Genetics, University of Pecs, Pecs, Hungary. Electronic address: matyas.petra@pre.hu.
Petra
P
Matyas
Department of Medical Genetics, University of Pecs, Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Pecs, Hungary. Electronic address: duga.balazs@pte.hu.
Balazs
B
Duga
Department of Medical Genetics, University of Pecs, Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Pecs, Hungary. Electronic address: kovesdi.erzsebet@pte.hu.
Erzsebet
E
Kovesdi
Department of Medical Genetics, University of Pecs, Pecs, Hungary. Electronic address: hadzsiev.kinga@pte.hu.
Kinga
K
Hadzsiev
Department of Medical Genetics, University of Pecs, Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Pecs, Hungary. Electronic address: melegh.bela@pte.hu.
Bela
B
Melegh
D000328:Adult; D065702:Cytochrome P-450 CYP2B6 / Q000235:genetics*; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D006814:Hungary / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011159:Population Surveillance / Q000379:methods; D015995:Prevalence; D006178:Romani People / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
C585599:CYP2B6 protein, human; D065702:Cytochrome P-450 CYP2B6; D019389:Cytochrome P-450 CYP2D6
CYP2B6; CYP2D6; Hungarian; Pharmacogenetics; Roma