AIMS: This study was aimed at elucidating the common sequence variation present in the CYP2C19 gene within the South African Xhosa population and comparing it with the Cape Mixed Ancestry (CMA) population for possible future pharmacogenetic applications. MATERIALS & METHODS: Common sequence variation was identified through the resequencing of 15 Xhosa individuals. The detected variants were prioritized for genotyping in an additional 85 Xhosa and 75 CMA individuals, while 5 -upstream variants were analyzed using dual luciferase reporter assays. RESULTS: Resequencing of the Xhosa population revealed 30 variants, including the novel CYP2C19*27 and CYP2C19*28 alleles. CYP2C19*27, characterized by -1041G>A, caused a twofold decrease in luciferase activity, while CYP2C19*28 is characterized by the nonsynonymous V374I variant. In addition, the previously characterized variants, CYP2C19*2, CYP2C19*9 and CYP2C19*17, were present in both populations, while CYP2C19*3 was only observed in the CMA population. CONCLUSION: Our data demonstrate that both the Xhosa and CMA populations exhibit unique genetic profiles that could influence the outcome of drug therapy in these populations.
AIMS: This study was aimed at elucidating the common sequence variation present in the CYP2C19 gene within the South African Xhosa population and comparing it with the Cape Mixed Ancestry (CMA) population for possible future pharmacogenetic applications. MATERIALS & METHODS: Common sequence variation was identified through the resequencing of 15 Xhosa individuals. The detected variants were prioritized for genotyping in an additional 85 Xhosa and 75 CMA individuals, while 5 -upstream variants were analyzed using dual luciferase reporter assays. RESULTS: Resequencing of the Xhosa population revealed 30 variants, including the novel CYP2C19*27 and CYP2C19*28 alleles. CYP2C19*27, characterized by -1041G>A, caused a twofold decrease in luciferase activity, while CYP2C19*28 is characterized by the nonsynonymous V374I variant. In addition, the previously characterized variants, CYP2C19*2, CYP2C19*9 and CYP2C19*17, were present in both populations, while CYP2C19*3 was only observed in the CMA population. CONCLUSION: Our data demonstrate that both the Xhosa and CMA populations exhibit unique genetic profiles that could influence the outcome of drug therapy in these populations.
Authors: I Fricke-Galindo; C Céspedes-Garro; F Rodrigues-Soares; M E G Naranjo; Á Delgado; F de Andrés; M López-López; E Peñas-Lledó; A LLerena Journal: Pharmacogenomics J Date: 2015-10-27 Impact factor: 3.550
Authors: Stuart A Scott; Katrin Sangkuhl; Alan R Shuldiner; Jean-Sébastien Hulot; Caroline F Thorn; Russ B Altman; Teri E Klein Journal: Pharmacogenet Genomics Date: 2012-02 Impact factor: 2.089
Authors: Carola R Röhrich; Britt I Drögemöller; Ogechi Ikediobi; Lize van der Merwe; Nelis Grobbelaar; Galen E B Wright; Nathaniel McGregor; Louise Warnich Journal: AIDS Res Hum Retroviruses Date: 2016-01-29 Impact factor: 2.205
Authors: Mariana R Botton; Michelle Whirl-Carrillo; Andria L Del Tredici; Katrin Sangkuhl; Larisa H Cavallari; José A G Agúndez; Jorge Duconge; Ming Ta Michael Lee; Erica L Woodahl; Karla Claudio-Campos; Ann K Daly; Teri E Klein; Victoria M Pratt; Stuart A Scott; Andrea Gaedigk Journal: Clin Pharmacol Ther Date: 2020-07-22 Impact factor: 6.875
Authors: Mariana Angulo-Aguado; Karen Panche; Caroll Andrea Tamayo-Agudelo; Daniel-Armando Ruiz-Torres; Santiago Sambracos-Parrado; Maria Jose Niño-Orrego; Nathaly Páez; Laura B Piñeros-Hernandez; Luisa-Fernanda Castillo-León; Juan Mauricio Pardo-Oviedo; Katherine Parra Abaunza; Paul Laissue; Nora Contreras; Carlos Alberto Calderón-Ospina; Dora Janeth Fonseca-Mendoza Journal: J Pers Med Date: 2021-05-12
Authors: Tyren M Dodgen; Warren E Hochfeld; Heidi Fickl; Sahle M Asfaha; Chrisna Durandt; Paul Rheeder; Britt I Drögemöller; Galen E B Wright; Louise Warnich; Christiaan D J Labuschagne; Antoinette van Schalkwyk; Andrea Gaedigk; Michael S Pepper Journal: BMC Med Genet Date: 2013-01-29 Impact factor: 2.103