Concordance of Pharmacogenetic Polymorphisms in Tumor and Germ Line DNA in Adult Patients with Acute Myeloid Leukemia

DOI: 10.1158/1055-9965.EPI-06-0964 Published May 2007

Article Figures & Data

Table 1.

Gene information and κ statistics for matched AML and buccal DNA samples (N = 80)

Gene	Single nucleotide polymorphism location	Chromosome	rs nos.	κ	Asymptotic error	Confidence interval	No. of evaluable cases (%)	No. of nonmatching genotype calls
ABCB1-03	Ex27-55A>C>G>T; I1144M	7q21.1	rs1045642	1.00			77 (96.3)	0
ABCB1-05	Ex22-9A>C>G>T; A892S	7q21.1	rs2032582	0.96	0.031	0.89-1.02	76 (95.0)	2
ABCB1-24	Ex13+12 A>G; G412G	7q21.1	rs1128503	0.98	0.023	0.95-1.02	76 (95.0)	1
ABCC1	Ex8 T825C; V275V	16p13.1	rs246221	1.00			76 (95.0)	0
ABCC1	Ex28 G4002A; S1334S	16p13.1	rs2230671	1.00			78 (97.5)	0
ABCC1	Ex9 T1062C; L562L	16p13.1	rs35587	0.98	0.022	0.93-1.02	77 (96.3)	1
ABCG2	Ex5 C421A; Q141K	4q22	rs2231142	1.00			75 (93.8)	0
ABCG2	Ex2 G34A; V12M	4q22	rs2231137	1.00			75 (93.8)	0
CAT-01	−329T>C	11p13	rs1001179	1.00			78 (97.5)	0
GPX1-01	Ex1-226C>T; P200L	3p21.3	rs1050450	0.96	0.029	0.90-1.02	79 (98.8)	2
SOD2-01	Ex2+24C>T; V16A	6q25.3	rs1799725	0.98	0.020	0.94-1.02	77 (96.3)	1
GSTA1-01	−4621T>C	6p12.1	rs3957357	1.00			78 (97.5)	0
GSTP1-01	Ex5-24A>G; I105V	11q13	rs947894	0.96	0.030	0.90-1.02	78 (97.5)	2
GSTM1	Gene deletion	1p13.3		1.00			77 (96.3)	0
GSTT1	Gene deletion	22q11.23		1.00			77 (96.3)	0
CYP3A4-02	−391A>G	7q21.1	rs2740574	0.94	0.053	0.89-1.05	77 (96.3)	1
CYP2C8	A1196G; R399K	10q23.33	rs10509681	0.96	0.040	0.88-1.04	77 (96.3)	1
CYP2C8	C792G; M264I	10q23.33	rs1058930	0.96	0.041	0.88-1.04	77 (96.3)	1
MGMT-01	Ex4-13A>G; I143V	10q26	rs2308321	1.00			80 (100.0)	0
XPD312	Ex10-16G>A; D312N	19q13.3	rs1799793	1.00			73 (91.3)	0
XPD751	Ex23-61A>C; K751Q	19q13.3	rs13181	0.98	0.022	0.93-1.02	76 (95.0)	1
XRCC1	Ex10-4A>G; Q399R	19q13.2	rs25487	1.00			74 (92.5)	0
CDA	A79C; K27Q	1p36.2-p35	rs2072671	1.00			77 (96.3)	0