Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients

Table 1 Clinical features of pancreatic cancer patients

Characteristic	Pancreatic cancer patients
	n = 61
Mean age ± SD (range) (yr)	63 ± 10 (44-81)
Male/Female	31 (50.8%)/30 (49.2%)
Primary tumor location
Head Body	38 (62.3%) 15 (24.6%)
Tail	8 (13.1%)
Smoking Yes/No	18 (29.5%)/43 (70.5%)

Table 2 Primers and restriction enzymes used for genotyping analyses

Gene	Primer (5’→ 3’; F = forward; R = reverse)		Restrictionenzyme
UGT1A7 codon 129 and 131	F1	AAT TGC AGG AGT TTG aTT AA1	VspI
	F2	AAT TGC AGG AGT TTG aTT A1	VspI
	R1	TTC AGA GGC TAT TTC TAA GA
UGT1A7 codon 208	F3	ATG CTC GCT GGA CGG CAC CAT TG	RsaI
	R2	TGC CGT GAC AGG GGT TTG GAG A
UGT1A7 allele specific	F4	ATT GCA GGA GTT TGT TTA AGG ACA	RsaI
	R1	TTC AGA GGC TAT TTC TAA GA
UGT1A9	F	CAGGTTTTGTGCTGGTATTTCTCCCA
	R	GCGGATATCCATAGGCACTGGCTTTCCCTGATGACA
ARP	G	GGCCGGGACTTGGAGGCGGTG
	I	CAGCACGCTCAGAGCCAG

¹Bold ‘a’ in the primer sequence denotes site-directed mutagenesis for introduction of a VspI restriction site in the wild-type allele.

Table 3 Allele and genotype frequencies of UGT1A7 and UGT1A9 gene polymorphisms in pancreatic cancers and controls n (%)

Polymorphisms	Cases (n = 61)	Controls(n = 105)
UGT1A7 (exon 1)
Allele frequencies
*1	54 (44.3)	74 (35.0)
*2	15 (12.3)	46 (22.0)
*3	52 (42.6)	89 (42.0)
*4	1 (0.8)	1 (1.0)
CLUMP (T1): χ2 = 5.66 (df = 3), P = 0.10
CLUMP (T3-column used 2): χ2 = 4.75 (df = 1), Pc = 0.07 (uncorrected P = 0.03)
Genotype frequencies
*1*1	10 (16.4)	14 (13.3)
*1*2	7 (11.5)	12 (11.4)
*2*2	2 (3.3)	6 (5.7)
*1*3	26 (42.6)	34 (32.4)
*2*3	4 (6.6)	22 (21.0)
*3*3	11 (18.0)	16 (15.2)
*1*4	1 (1.6)	0 (0.0)
*3*4	0 (0.0)	1 (1.0)
CLUMP (T1): χ2 = 9.43 (df = 9), P = 0.21
CLUMP (T3-column used 5): χ2 = 6.05 (df = 1), Pc = 0.07 (uncorrected P = 0.01)
UGT1A9 (exon 1)
Allele frequencies
*1	121 (99.2)	206 (98.0)
*5	1 (0.8)	2 (1.0)
*4	0 (0.0)	2 (1.0)
CLUMP (T1): χ2 = 1.19 (df = 2), P = 0.79
Genotype frequencies
*1*1	60 (98.4)	101 (96.2)
*1*5	1 (1.6)	2 (1.9)
*1*4	0 (0.0)	2 (1.9)
CLUMP (T1): χ2 = 1.19 (df = 5), P = 0.79

Table 4 Allele and genotype frequencies of ARP, SPINK1 and CFTR gene polymorphisms in pancreatic cancers and controls

Polymorphisms	Cases(n = 61)	Controls(n = 105)
ARP
Allele frequencies
*1	4 (3.3)	4 (2.0)
*2	4 (3.3)	7 (3.0)
*3	111 (91.0)	195 (93.0)
*4	1 (0.8)	0 (0.0)
*5	1 (0.8)	2 (1.0)
*6	1 (0.8)	0 (0.0)
*7	0 (0.0)	2 (1.0)
CLUMP (T1): χ2 = 5.25 (df = 6), P = 0.52
Genotype frequencies
*1*3	4 (6.6)	4 (3.8)
*2*3	4 (6.6)	7 (6.7)
*3*3	50 (82.0)	90 (85.7)
*3*4	1 (1.6)	0 (0.0)
*3*5	1 (1.6)	2 (1.9)
*3*6	1 (1.6)	0 (0.0)
*3*7	0 (0.0)	2 (1.9)
CLUMP (T1): χ2 = 5.29 (df = 27), P = 0.54
SPINK1 (exon 3)
Allele frequencies
wt	117 (95.9)	206 (98.0)
P55S	4 (3.3)	2 (1.0)
N34S	1 (0.8)	2 (1.0)
CLUMP (T1): χ2 = 2.36 (df = 2), P = 0.29
Genotype frequencies
wt/wt	56 (91.8)	101 (96.2)
wt/P55S	4 (6.6)	2 (1.9)
wt/N34S	1 (1.6)	2 (1.9)
CLUMP (T1): χ2 = 2.40 (df = 5), P = 0.30
CFTR
Allele frequencies
wt	119 (97.5)	206 (98.0)
∆F508	3 (2.5)	4 (2.0)
CLUMP (T1): χ2 = 0.11 (df = 1), P = 1.0
Genotype frequencies
wt/wt	58 (95.1)	101 (96.2)
wt/∆F508	3 (4.9)	4 (3.8)
CLUMP (T1): χ2 = 0.11 (df = 2), P = 1.0

n (%)