Real time PCR detection of common CYP2D6 genetic variants and its application in a Karen population study

Malaria Journal

Table 4 CYP2D6 allele frequencies in Karen compared with frequencies previously described in other ethnic populations

Population	Year	n	Methods	C100T P34S (*10)	C1039T	G1661C	G1846A Splicing (*4)	C2850T R296C (*2)	G4180C S486T	Gene conversion (*36)	Deletion (*5)	Duplications
Asian
Karen (current study)	2017	70	DSP/ASO	0.40	0.43	0.76	0.02	0.33	0.76	0.01	0.03	0.01
Thai [44]	2011	286	M/DHPLC	0.45	ND	ND	0.01	0.10	ND	0.16	0.04	0.004
Thai [49]	2012	48	AmpliChip	0.44	ND	ND	0.01	0.10	ND	0.01	0.04	ND
Thai [50]	2013	114	AmpliChip	0.46	ND	ND	0.01	0.10	ND	0.01	0.04	ND
Thai [51]	2013	233	Amplichip	0.48	ND	ND	0.01	0.09	ND	0.01	0.05	0.004
Thai [45]	2016	84	Luminex xTag	0.52	ND	ND	0.01	0.06	ND	ND	ND	0.06
Chinese [52]	2002	223	ASA	0.51	ND	ND	0.002	ND	ND	ND	0.07	0.01
Chinese [53]	2008	400	Sequencing	0.53	ND	ND	0.001	0.11	ND	ND	0.05	0.02
Hong Kong Chinese [54]	2000	119	PCR–RFLP	0.65	ND	ND	0.00	0.08	ND	ND	0.05	ND
Vietnamese [55]	2010	122	mSBE	0.57	ND	ND	ND	0.08	ND	ND	0.06	0.00
Japanese [56]	1999	98	PCR	0.41	ND	ND	0.02	0.09	ND	ND	0.06	ND
Japanese [57]	2000	412	PCR–RFLP	0.38	ND	ND	0.002	0.13	ND	ND	0.05	0.01
Japanese [58]	2003	162	ASA-RFLP	0.38	ND	ND	0.00	0.13	ND	0.01	0.06	ND
Korean [59]	2006	400	Sequencing	0.45	ND	ND	0.003	0.10	ND	ND	0.06	0.01
Korean [60]	2009	758	Sequencing	0.46	ND	ND	ND	0.10	ND	ND	0.06	0.01
Korean [61]	2011	766	SNaPshot	0.43	ND	ND	0.001	0.12	ND	ND	0.06	0.01
South India [62]	2006	447	PCR–RFLP	0.10	ND	ND	0.07	0.35	ND	ND	0.02	ND
Caucasian
Germany [63]	1997	589	PCR–RFLP	0.02	ND	ND	0.21	0.32	ND	ND	0.02	0.007
Mexican-American [64]	2001	349	PCR–RFLP	0.07	ND	ND	0.10	0.23	ND	ND	0.02	0.01
Spanish [65]	2006	105	RT-PCR	0.02	ND	ND	0.14	0.40	ND	ND	0.03	0.04
African
African-American [66]	2001	154	PCR–RFLP	0.08	ND	ND	0.08	0.27	ND	ND	0.06	0.02
African-American [67]	2006	222	AmpliChip	0.04	ND	ND	0.07	0.05	ND	0.005	0.06	0.05
African-American [68]	2013	75	mPCR	0.03	ND	ND	0.08	0.29	ND	ND	0.09	ND

Allele frequencies of CYP2D6*2, *4, *5, *10 and *36 were calculated based on the presence of C2850T, G1846A, entire CYP2D6 gene deletion, C100T and gene conversion, respectively
n, the number of subjects ND, allele not determined in reference study; DSP/ASO, direct sequencing of PCR-reamplified products and allele-specific oligonucleotide probes real-time SNPs genotyping; ASA, allele-specific amplification assay; mPCR or SBE, multiplex PCR or single-base extension; M/DHPLC, multiplex PCR coupled with semi-quantitative denaturing high-performance liquid chromatography

ISSN: 1475-2875