CYP1A1 variability in human populations

Cristina Martínez-Labarga, Giuseppina Scano, Roberta Lelli, Brigitte Peacock, Lorenzo Ricci, Giuseppina Primativo, Irene Contini, Gianfranco Biondi, Michael H. Crawford, Hani S. Hafez, Andrea Novelletto, Pavao Rudan, Gianfranco De Stefano, Olga Rickards


The human cytochrome P4501A1 (CYP1A1) enzyme plays an important role in the metabolism of xenobiotics and endogenous substrates. Because polymorphisms within the CYP1A1 gene have been shown to be associated with various cancer risks and with the predicting clinical efficacy of some chemotherapies in different populations , most studies focus on their clinical significance. We, however, were interested in evaluating whether the polymorphisms could be used to distinguish human populations. Four single nucleotide CYP1A1 polymorphisms (rs4646903/ g.75011641;  rs1048943/g.75012985; g.75012235; and  rs1799814/ g.75012987) were analyzed via PCR-RFLP assay in 1,195 individuals of various human groups from all over the world. In order to gain a more complete view of the genetic variability of the CYP1A1 gene, different statistical analyses were performed upon the populations of the present study and upon the limited data gleaned from previously studied populations.The allele and haplotype frequencies vary among populations: the rs4646903 (C) and rs1048943 (G) have been found to be nearly always linked and were found at the highest frequencies in Native Americans, while the variant associated to the position g.75012235 was only detected in certain African populations. Our work clearly indicates that the CYP1A1 polymorphisms are different  among populations and the prediction of genotypes constitutes any important aspect of precision medicine since some variants were associated with certain cancers and rs1048943 show strong association with optimized chemiotherapy. Moreover, the CYP1A1 gene plays an important role in the metabolism of xenobiotics and it is likely that its frequencies could be strongly influenced by environmental factor


P4501A1, nuclear polymorphisms, single-nucleotide polymorphisms (SNPs), restriction fragment length polymorphism (RFLP), human populations

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