Distinctiveness of the Roma Population within
            <i>CYP2B6</i>
            Worldwide Variation

Tomas, Željka; Kuhanec, Antonija; Škarić‐Jurić, Tatjana; Petranović, Matea Zajc; Narančić, Nina Smolej; Janičijević, Branka; Salihović, Marijana Peričić

doi:10.2217/pgs-2017-0105

Cited by 7 publications

(6 citation statements)

References 44 publications

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“…Significant genetic differentiation from general Europeans in SNPs in the CYP2C and CYP2D subfamily regions was also found in previous research of isolated populations in Europe (Roma, Basques, and Orcadians) [ 50 ]. Among the former analyses of ADME polymorphisms in Roma populations, Tomas et al [ 27 ] particularly studied 3 SNP loci in the CYP2B6 gene, Spikey et al [ 51 ] studied 4 SNP loci in the MDR1 gene while Nagy et al [ 15 ] analyzed 2 SNP loci in the SLCO1B3 gene and all of them confirmed that the Roma differ considerably from geographically close majority populations, as well as from Indian populations in those particular loci. Such results are not surprising knowing Roma genetic history which is influenced by strict rules of group endogamy, reproductive isolation and specific mating practice and isolation over the past several centuries.…”

Section: Discussionmentioning

confidence: 99%

“…Their pronounced genetic differences from the majority Croatian population and traces of their ancestral origins have been detected in mitochondrial DNA [ 22 ], Y chromosome markers [ 23 , 24 ] and various autosomal common [ 25 ] and rare disease loci [ 26 ]. The recent study of ADME gene's CYP2B6 polymorphisms proved the distinctive position of the Croatian Roma in the world's populational variability [ 27 ] and indicated the need for a systematic investigation of the most important pharmacogenes' variants in the Roma.…”

Section: Introductionmentioning

confidence: 99%

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Characterization of ADME genes variation in Roma and 20 populations worldwide

et al. 2018

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The products of the polymorphic ADME genes are involved in Absorption, Distribution, Metabolism, and Excretion of drugs. The pharmacogenetic data have been studied extensively due to their clinical importance in the appropriate drug prescription, but such data from the isolated populations are rather scarce. We analyzed the distribution of 95 polymorphisms in 31 core ADME genes in 20 populations worldwide and in newly genotyped samples from the Roma (Gypsy) population living in Croatia. Global distribution of ADME core gene loci differentiated three major clusters; (1) African, (2) East Asian, and (3) joint European, South Asian and South American cluster. The SLCO1B3 (rs4149117) and CYP3A4 (rs2242480) genes differentiated at the highest level the African group of populations, while NAT2 gene loci (rs1208, rs1801280, and rs1799929) and VKORC1 (rs9923231) differentiated East Asian populations. The VKORC1 rs9923231 was among the investigated loci the one with the largest global minor allele frequency (MAF) range; its MAF ranged from 0.027 in Nigeria to 0.924 in Han Chinese. The distribution of the investigated gene loci positions Roma population within the joined European and South Asian clusters, suggesting that their ADME gene pool is a combination of ancestral (Indian) and more recent (European) surrounding, as it was already implied by other genetic markers. However, when compared to the populations worldwide, the Croatian Roma have extreme MAF values in 10 out of the 95 investigated ADME core gene loci. Among loci which have extraordinary MAFs in Roma population two have strong proof of clinical importance: rs1799853 (CYP2C9) for warfarin dosage, and rs12248560 (CYP2C19) for clopidogrel dosage, efficacy and toxicity. This finding confirms the importance of taking the Roma as well as the other isolated populations`genetic profiles into account in pharmaco-therapeutic practice.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Characterization of ADME genes variation in Roma and 20 populations worldwide

et al. 2018

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“…This population has the same health status as the older general population in the UK. Ethnicity was described by the interviewer based on appearance and parental origin [ 59 ].…”

Section: Methodsmentioning

confidence: 99%

Global variability of the human IgG glycome

Štambuk

Nakić

Vučković

et al. 2020

Aging

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“…For example, in Roma, allelic differences in lactate dehydrogenase (Hubácek et al., 2017b), drug metabolism enzymes (Tomas et al., 2017, Dlouhá et al, in press), or osteoprotegerin (Mydlárová Blaščáková et al., 2017) polymorphisms clearly underlie genetic differences that could have important clinical (optimal treatment or dietary recommendations) or live expectancy consequences.…”

Section: Discussionmentioning

confidence: 99%

Different prevalence of T2DM risk alleles in Roma population in comparison with the majority Czech population

Hubáček

Šedová

Olišarová

et al. 2020

Molec Gen & Gen Med

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Background The Czech governmental study suggests up to a 25% higher prevalence of type 2 diabetes mellitus (T2DM) in the Roma population than within the majority population. It is not known whether and to what extent these differences have a genetic background. Methods To analyze whether the frequencies of the alleles/genotypes of the FTO, TCF7L2, CDKN2A/2B, MAEA, TLE4, IGF2BP2, ARAP1, and KCNJ11 genes differ between the two major ethnic groups in the Czech Republic, we examined them in DNA samples from 302 Roma individuals and 298 Czech individuals. Results Compared to the majority population, Roma are more likely to carry risk alleles in the FTO (26% vs. 16% GG homozygotes, p < .01), IGF2BP2 (22% vs. 10% TT homozygotes, p < .0001), ARAP1 (98% vs. 95% of A allele carriers, p < .005), and CDKN2A/2B (81% vs. 66% of TT homozygotes, p < .001) genes; however, less frequently they are carriers of the TCF7L2 risk allele (34% vs. 48% of the T allele p < .0005). Finally, we found significant accumulation of T2DM‐associated alleles between the Roma population in comparison with the majority population (25.4% vs. 15.2% of the carriers of at least 12 risk alleles; p < .0001). Conclusion The increased prevalence of T2DM in the Roma population may have a background in different frequencies of the risk alleles of genes associated with T2DM development.

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Distinctiveness of the Roma Population within CYP2B6 Worldwide Variation

Abstract: This study provides the first data of several CYP2B6 polymorphisms in Roma population and indicates the need for systematic investigation of the most important pharmacogenes' variants in this large, transnationally isolated population worldwide.

Cited by 7 publications

References 44 publications

Characterization of ADME genes variation in Roma and 20 populations worldwide

Characterization of ADME genes variation in Roma and 20 populations worldwide

Global variability of the human IgG glycome

Different prevalence of T2DM risk alleles in Roma population in comparison with the majority Czech population

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