Comparison of CYP2C9, CYP2C19, CYP2D6, ABCB1, and SLCO1B1 gene-polymorphism frequency in Russian and Nanai populations

Figures & data

Table 1 Results of genotyping the Nanai ethnic group

Polymorphism	CYP2C9*2^C430T, rs1799853	CYP2C9*3^A1075C, rs1057910	CYP2C19*2^G681A, rs4244285	CYP2C19*3^G636A, rs4986893/rs57081121	CYP2C19*17^C806T, rs12248560	CYP2D6*4^G1846A, rs3892097	ABCB1^C3435T, rs1045642	SLCO1B1*5^T521C, rs4149056
Subjects, n/alleles, n	70/140	70/140	70/140	70/140	70/140	70/140	70/140	70/140
*1/*1, n (%)	70 (100)	62 (88.6)	39 (55.7)	58 (82.9)	67 (95.7)	68 (97.1)	19 (27.1)	41 (58.6)
*1/*X, n (%)	0	8 (11.4)	28 (40)	12 (17.1)	3 (4.3)	2 (2.9)	39 (55.7)	25 (35.7)
*X/*X, n (%)	0	0	3 (4.3)	0	0	0	12 (17.1)	4 (5.7)
*1, n (%)	140 (100)	132 (94.3)	106 (75.7)	128 (91.4)	137 (97.9)	138 (98.6)	77 (55)	107 (76.4)
*X, n (%)	0	8 (5.7)	34 (24.3)	12 (8.6)	3 (2.1)	2 (1.4)	63 (45)	33 (23.6)
χ^2 (Hardy–Weinberg)	–	0.26	0.54	0.62	0.03	0.01	1.1	0.005
P	–	0.6	0.46	0.43	0.85	0.9	0.29	0.9

Notes: *1, nonmutant allele of the cytochrome/transporter; *X, minor-allele frequency; *1/*1, “wild” genotype; *1/*X, heterozygous genotype; *X/*X, mutant homozygous allele genotype. Differences significant at P<0.05.

Table 2 Comparison of frequencies of SNPs between Nanai and Russian groups

	Subjects, n/alleles, n		*X, n (%)		P-value+	OR	95% CI
	Nanai	Russian	Nanai	Russian
CYP2C9*3	70/140	642/1,284^Citation27,Citation28	8 (5.7)	74 (5.8)	1	0.99	0.47–2.1
CYP2C19*2	70/140	642/1,284^Citation27,Citation28	34 (24.3)	158 (12.3)	0.0002	2.29	1.5–3.48
CYP2C19*3	70/140	290/580^Citation27	12 (8.6)	2 (0.3)	<0.0001	27.1	5.98–122.59
CYP2C19*17	70/140	971/1,942^Citation29	3 (2.1)	531 (27.3)	<0.0001	0.06	0.02–0.18
CYP2D6*4	70/140	642/1,284^Citation27,Citation28	2 (1.4)	224 (17.4)	<0.0001	0.07	0.02–0.28
ABCB1	70/140	290/580^Citation27	63 (45)	315 (54.3)	0.059	0.69	0.48–0.99
SLCO1B1*5	70/140	1,071/2,142^Citation15	33 (23.6)	466 (21.8)	0.69	1.11	0.74–1.66

Notes: *X, minor allele frequency

+ frequencies of Nanai vs Russian alleles compared using accurate Fisher criterion. Differences significant at P<0.05.

Abbreviations: CI, confidence interval; OR, odds ratio; SNPs, single nucleotide polymorphisms.

Table 3 Likely phenotypes in Nanai and Russian ethnic groups

	CYP2C9		CYP2C19		CYP2D6
	Nanai	Russian^Citation27,Citation28	Nanai	Russian^Citation29	Nanai	Russian^Citation27,Citation28
EM	62 (88.6%)	440 (68.5%)	28 (40%)	317 (32.6%)	70 (100%)	619 (96.4%)
IM	8 (11.4%)	185 (28.8)	36 (51.4%)	251 (25.8%)	–	–
PM	0	17 (2.6%)	5 (7.1%)	17 (1.8%)	0	23 (3.6%)
UM	–	–	1 (1.4%)	386 (39.8%)	–	–
Total	70 (100%)	642 (100%)	70 (100%)	971 (100%)	70 (100%)	642 (100%)

Note: We used CPIC guidelines for interpretation of pharmacogenetic information.^9,10

Abbreviations: CPIC, Clinical Pharmacogenetics Implementation Consortium; EM, extensive metabolizer; IM, intermediate metabolizer; PM, poor metabolizer; UM, ultrarapid metabolizer.

GaikovitchEACascorbiIMrozikiewiczPMPolymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian populationEur J Clin Pharmacol200359430331212879168

 PubMed Web of Science ®Google Scholar

GraOMityaevaOBerdichevetsIMicroarray-based detection of CYP1A1, CYP2C9, CYP2C19, CYP2D6, GSTT1, GSTM1, MTHFR, MTRR, NQO1, NAT2, HLA-DQA1, and AB0 allele frequencies in native RussiansGenet Test Mol Biomarkers201014332934220373852

 PubMed Web of Science ®Google Scholar

SychevDADenisenkoNPSizovaZMGrachevAVVelikolugKAThe frequency of CYP2C19 genetic polymorphisms in Russian patients with peptic ulcers treated with proton pump inhibitorsPharmgenomics Pers Med2015811111426109874

 PubMedGoogle Scholar

SychevDAShuevGNChertovskihJVMaksimovaNRGrachevAVSyrkovaOAThe frequency of SLCO1B1*5 polymorphism genotypes among Russian and Sakha (Yakutia) patients with hypercholesterolemiaPharmgenomics Pers Med20169596327307760

 PubMed Web of Science ®Google Scholar

CaudleKERettieAEWhirl-CarrilloMClinical Pharmacogenetics Implementation Consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosingClin Pharmacol Ther201496554254825099164

 PubMed Web of Science ®Google Scholar

HicksJKBishopJRSangkuhlKClinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 and CYP2C19 genotypes and dosing of selective serotonin reuptake inhibitorsClin Pharmacol Ther201598212713425974703

 PubMed Web of Science ®Google Scholar