Table 1 Genes, genetic variations, genotype and allele frequencies in women and men.

From: Sex-Related Differences in Impact on Safety of Pharmacogenetic Profile for Colon Cancer Patients Treated with FOLFOX-4 or XELOX Adjuvant Chemotherapy

Gene (site) ID number

Type of variation

Genotype (amino acid change)

N°pts W/M

W/M genotype N° patients (genotype frequency W/M)

Allele Frequency W/M

AA

Aa

aa

p-value*

A

a

TYMS (5′UTR) rs34743033

VNTR§

3 R > 2 R

217/294

67 (0.31)/106 (0.36)

108 (0.50)/130 (0.44)

42 (0.19)/58 (0.20)

0.4017

0.56/0.58

0.44/0.42

TYMS (5′UTR) rs2853542

SNP§

G > C in 3 R

217/294

117 (0.54)/146 (0.50)

—

100 (0.46)/148 (0.50)

0.3412

0.54/0.50

0.46/0.50

TYMS (3′UTR) rs11280056

6 bp deletion

Insertion/Deletion

217/294

82 (0.38)/105 (0.36)

101 (0.47)/135 (0.46)

34 (0.16)/54 (0.18)

0.7098

0.60/0.59

0.40/0.41

MTHFR (exon 4) rs1801133

SNP

C > T (Ala222Val)

217/293

71 (0.33)/90 (0.31)

101 (0.47)/148 (0.51)

45 (0.21)/55 (0.19)

0.6683

0.56/0.56

0.44/0.44

MTHFR (exon 7) rs1801131

SNP

A > C (Glu429Ala)

217/293

109 (0.50)/142 (0.48)

88 (0.41)/125 (0.43)

20 (0.09)/26 (0.09)

0.8922

0.70/0.70

0.30/0.30

ERCC1 (exon 4) rs11615

SNP

T > C (Asn118Asn)

218/294

86 (0.39)/111 (0.38)

100 (0.46)/128 (0.44)

32 (0.15)/55 (0.19)

0.4862

0.62/0.60

0.38/0.40

XRCC1 (exon 10) rs25487

SNP

G > A (Gln399Arg)

215/291

90 (0.42)/119 (0.41)

97 (0.45)/142 (0.49)

28 (0.13)/30 (0.10)

0.5551

0.64/0.65

0.36/0.35

XPD (exon 10) rs1799793

SNP

G > A (Asp312Asn)

210/285

85 (0.40)/125 (0.44)

89 (0.42)/127 (0.45)

36 (0.17)/33 (0.12)

0.2070

0.62/0.66

0.38/0.34

XPD (exon 23) rs13181

SNP

T > G (Lys751Gln)

214/294

78 (0.36)/113 (0.38)

99 (0.46)/137 (0.47)

37 (0.17)/44 (0.15)

0.7586

0.60/0.62

0.40/0.38

XRCC3 (exon 7) rs861539

SNP

C > T (Thr241Met)

213/291

63 (0.30)/108 (0.37)

105 (0.49)/138 (0.47)

45 (0.21)/45 (0.15)

0.1132

0.54/0.61

0.46/0.39

GSTPI (exon 5) rs1695

SNP

A > G (Ile105Val)

217/293

94 (0.43)/150 (0.51)

104 (0.48)/121 (0.41)

19 (0.09)/22 (0.08)

0.2123

0.67/0.72

0.33/0.28

GST-T1‡

Deletion

Yes/No

217/294

176 (0.81)/243 (0.83)

—

41 (0.19)/51 (0.17)

0.6528

0.81/0.83

0.19/0.17

GST-M1‡

Deletion

Yes/No

217/294

112 (0.52)/150 (0.51)

—

105 (0.48)/144 (0.49)

0.8946

0.52/0.51

0.48/0.49

ABCC1 (intron) rs2074087

SNP

G > C

202/277

144 (0.71)/197 (0.71)

54 (0.27)/73 (0.26)

4 (0.02)/7 (0.03)

0.9236

0.85/0.84

0.15/0.16

ABCC2 (exon 28) rs3740066

SNP

G > A (Ile1324Ile)

216/293

86 (0.40)/102 (0.35)

99 (0.46)/145 (0.49)

31 (0.14)/46 (0.16)

0.5122

0.63/0.60

0.37/0.40

ABCC2 (5′flank) rs1885301

SNP

G > A

217/285

81 (0.37)/76 (0.27)

89 (0.41)/149 (0.52)

47 (0.22)/60 (0.21)

0.0203

0.58/0.53

0.42/0.47

ABCC2 (intron) rs4148386

SNP

A > G

217/294

85 (0.39)/79 (0.27)

87 (0.40)/157 (0.53)

45 (0.21)/58 (0.20)

0.0050

0.59/0.54

0.41/0.46

  1. A: major allele frequency; a: minor allele frequency; VNTR: variable number of tandem repeats; SNP: single nucleotide polymorphism; bp: base pair; pts: patients; W/M: women/men;
  2. §TYMS VNTR: is a tandem repeat polymorphism, results are stated as three copies of the repeat (AA) or two copies of the repeat (aa). The VNTR polymorphism is reanalyzed according to a SNP in 3 R carriers.
  3. ‡GST -T1 and -M1 are deletion polymorphisms, resulte are stated as the number of patients with at least one copy of the gene (AA) vs patients with homozygous gene deletion (aa). *Chi-squared test women vs men.
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