Table 2 Polymorphisms genotyped and allele frequency.

From: Functional PTGS2 polymorphism-based models as novel predictive markers in metastatic renal cell carcinoma patients receiving first-line sunitinib

Gene

SNP

Variation

Patients*

Homozygous wild-type

Heterozygous

Homozygous variant

Observed MAF

MAF in dbSNP

AKT1

rs3803304 C > G

Intron

75

41

28

6

0.27

0.22

AKT1

rs2498804 G > T

3´near gene

75

31

35

9

0.35

0.34

AKT1

rs2494738 G > A

Intron

71

57

13

1

0.11

0.07

AKT1

rs1130214 G > T

5´-UTR

75

41

31

3

0.25

0.28

AKT2

rs8100018 G > C

Intron

75

43

29

3

0.23

0.26

AKT2

rs892119 G > A

Intron

75

55

19

1

0.14

0.14

AKT3

rs12045585 G > A

Intron

75

54

20

1

0.15

0.13

AKT3

rs2994329 G > A

Intron

74

46

27

1

0.20

0.20

ARNT

rs2228099 C > G

V189V

73

24

41

8

0.39

0.39

CXCL12

rs1801157 G > A

3´-UTR

73

41

32

0

0.22

0.21

FGFR2

rs2981582 C > T

Intron

75

32

24

19

0.41

0.46

FGFR4

rs351855 C > T

G388R

73

34

33

6

0.31

0.28

FLT3

rs1933437 T > C

T227M

73

21

40

12

0.44

0.34

FLT4

rs307826 A > G

T494A

74

53

19

2

0.16

0.10

HIF1A

rs11549465 C > T

P582S

72

53

17

2

0.15

0.07

IL1b

rs1143634 C > T

F105F

73

39

31

3

0.25

0.21

IL4

rs2243250 C > T

Promoter

75

56

18

1

0.13

0.14

IL8

rs4073 T > A

5´near gene

72

24

36

12

0.42

0.40

IL10

rs1800896 A > G

5´near gene

74

23

40

11

0.42

0.47

IL10

rs1800872 C > A

5´near gene

73

36

29

8

0.31

0.21

KDR

rs2305948 C > T

V297L

75

65

10

0

0.07

0.08

KDR

rs1870377 T > A

Q472H

74

43

28

3

0.23

0.27

KDR

rs2071559 C > T

5´near gene

74

22

30

22

0.50

0.49

KDR

rs7692791 T > C

Intron

74

18

41

15

0.48

0.48

KDR

rs1531289 C > T

Intron

74

32

34

8

0.34

0.29

MTOR

rs11121704 T > C

Intron

74

37

33

4

0.28

0.27

MTOR

rs2295080 T > G

3´near gene

74

31

34

9

0.35

0.30

MTOR

rs1074078 C > T

5´near gene

75

28

35

12

0.39

0.32

NOS3

rs1799983 G > T

D298E

72

22

37

13

0.44

0.34

PDGFRA

rs35597368 T > C

S478P

73

55

16

2

0.14

0.13

PDGFRA

rs1800813 G > A

5´near gene

74

46

25

3

0.21

0.21

PDGFRA

rs1800810 C > G

Promoter

73

45

24

4

0.22

0.21

PDGFRA

rs1800812 G > T

Promoter

74

43

25

6

0.25

0.21

PGF

rs8185 A > G

3´-UTR

74

52

20

2

0.16

0.17

PIK3CA

rs7651265 A > G

Intron

74

56

17

1

0.13

0.12

PIK3CA

rs7640662 C > G

Intron

75

54

19

2

0.15

0.14

PIK3CA

rs7621329 C > T

Intron

75

40

29

6

0.27

0.12

PIK3CA

rs6443624 C > A

Intron

75

36

29

10

0.33

0.17

PIK3CA

rs2699887 G > A

Intron

75

42

31

2

0.23

0.26

PTEN

rs2299939 C > A

Intron

75

55

17

3

0.15

0.20

PTEN

rs12569998 T > G

Intron

74

59

14

1

0.11

0.14

PTEN

rs12357281 G > C

Intron

75

66

9

0

0.06

0.06

PTGS2

rs5275 T > C

3´-UTR

74

40

27

7

0.28

0.38

RET

rs1799939 G > A

G691S

73

48

21

4

0.20

0.11

RHEB

rs717775 A > C

Intron

74

34

33

7

0.32

0.28

RICTOR

rs2043112 C > T

S837F

75

26

35

14

0.42

0.41

RPTOR

rs7211818 A > G

Intron

75

46

25

4

0.22

0.24

RPTOR

rs11653499 A > G

Intron

74

40

23

11

0.30

0.30

RPTOR

rs7212142 G > A

Intron

75

20

42

13

0.45

0.38

RPTOR

rs9674559 A > G

Intron

74

45

25

4

0.22

0.25

TGFB1

rs1800469 C > T

5´near gene

66

26

33

7

0.36

0.29

TGFBR1

rs868 A > G

3´-UTR

74

46

24

4

0.22

0.20

TNF

rs1800629 G > A

Intron

73

62

10

1

0.08

0.17

TNF

rs361525 G > A

5´near gene

74

63

1

10

0.14

0.07

TNF

rs1799724 C > T

5´near gene

74

61

13

0

0.09

0.07

TSC2

rs2073636 C > T

Intron

74

29

35

10

0.37

0.44

TSC2

rs8063461 G > A

Intron

75

28

39

8

0.37

0.44

VEGFA

rs2010963 G > C

5´-UTR

75

32

35

8

0.34

0.20

VEGFA

rs1570360 G > A

5´near gene

74

42

25

7

0.26

0.28

VEGFA

rs699947 C > A

5´near gene

75

26

35

14

0.42

0.48

VEGFA

rs3025039 C > T

3´-UTR

74

54

18

2

0.15

0.18

VEGFA

rs25648 C > T

S178S

74

54

17

3

0.16

0.18

VEGFA

rs2146323 C > A

Intron

74

37

30

7

0.30

0.34

  1. Abbreviations: dbSNP, SNP database (http://www.ncbi.nlm.nih.gov/snp/); MAF, minor allele frequency; rs, reference SNP; SNP, single nucleotide polymorphism; UTR, untranslated region.
  2. *Patients successfully genotyped.