Comparison between MassARRAY and pyrosequencing for CYP2C19 and ABCB1 gene variants of clopidogrel efficiency genotyping

Figures & data

Figure 1. Key steps of MassARRAY (1a) and PyroMark Q24 (1b).

Table 1. Genotype and allele frequencies of CYP2C19 and ABCB1 variants in Chinese Han population and comparison with European and Asian countries in previous studies.

Allele	SNP	Genotype frequencies (n = 458)		Genotype frequencies (European)	Genotype frequencies (Asian)
CYP2C19*2	681 G > A	GG	0.5239(247)	0.745	0.4445
	rs4244285	GA	0.380(174)	0.238	0.4851
		AA	0.081(37)	0.017	0.0693
CYP2C19*3	636 G > A	GG	0.884(405)	1.000	0.9286
	rs4986893	GA	0.114(52)	0.000	0.0714
		AA	0.002(1)	0.000	0
CYP2C19*4	1 A > G	AA	1.00(458)	1.00	1.00
	rs28399504	GG	0.00(0)	0.00	0.00
CYP2C19*5	1297 C > T	CC	1.00(458)	1.00	1.00
	rs56337013	TT	0.00(0)	0.00	0.00
CYP2C19*17	806 C > T	CC	0.978(448)	0.559	0.9777
		CT	0.022(10)	0.388	0.0223
	rs12248560	TT	0.00(0)	0.053	0
ABCB1 C3435T	3435 C > T	CC	0.358(164)	0.173	0.3616
	rs1045642	CT	0.177(81)	0.581	0.4643
		TT	0.465(213)	0.246	0.1741

Table 2. Distribution of CYP2C19 genotypes according to their relevance for clopidogrel metabolism phenotypes in Chinese Han population.

Clopidogrel metabolism phenotype	Genotype (SNP)	Population (frequency %) (n = 458)
Poor metabolizer	*2/*2 (681AA, 636GG)	8.07% (37)
	*2/*3 (681GA, 636GA)	2.83% (13)
	*3/*3 (681GG, 636AA)	0.21% (1)
Intermediate metabolizer	*1/*2 (681GA, 636GG)	35.15% (161)
	*1/*3 (681GG, 636GA)	8.51% (39)
Ultra metabolizer	*1/*1 (681GG, 636GG)	43.01% (197)
	*1/*17 (−806CT)	2.18% (10)
Ultra metabolizer	*17/*17 (−806TT)	0 (0)

Table 3. Comparison of MassARRAY iPLEX and PyroMark Q24 on CYP2C19 genotypes.

Sample number	MassARRAY iPLEX	PyroMark Q24 (CYP2C19*2)	Sanger sequencing
1	GG	GA	GG
2	GG	GA	GG
3	GG	GA	GG
5	GA	GG	GA
6	GG	GA	GG
7	GG	GA	GG

Table 4. Characteristics of the two methods and the gold standard (Sanger sequencing) Available for Clopidogrel Efficacy Genotyping.

	MassARRAY iPLEX	PyroMark Q24	Sanger sequencing
Number of samples per plate	384	24	1
Turnaround time, hours	7–8	7–8	12–24
Reagent cost per plate	$ 5	$ 12.3	$ 20
Number of SNP per run	6 or more	1	1
Operation complexity	Low	Low	Low