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Table 5 Allele and genotype distributions for 22 genetic polymorphisms: all response-evaluable patients with genotype data.

From: A prospective phase II trial exploring the association between tumor microenvironment biomarkers and clinical activity of ipilimumab in advanced melanoma

Gene

Poly-morphism

Major Allele (1)

Minor Allele (2)

HWE

P-value

Minor Allele Frequency (%)

Number of Patients (%)

      

Genotype 11

Genotype 12

Genotype 22

Genotype Unknown

Total

BTNL2

rs2076530

A

G

0.31

41.4

24 (37.5)

27 (42.2)

13 (20.3)

1 (1.5)

65 (85.5)

CCR5

CCR5d32

wt

d32

0.49

10.0

53 (81.5)

11 (16.9)

1 (1.5)

0 (0.0)

65 (85.5)

CCR5

rs1799987

A

G

0.30

39.2

26 (40.0)

27 (41.5)

12 (18.5)

0 (0.0)

65 (85.5)

CD86

rs1129055

G

A

0.15

31.5

33 (50.8)

23 (35.4)

9 (13.8)

0 (0.0)

65 (85.5)

CD86

rs2681417

A

G

1.00

2.4

60 (95.2)

3 (4.8)

0 (0.0)

2 (3.1)

65 (85.5)

CTLA4

rs11571317

C

T

1.00

4.6

59 (90.8)

6 (9.2)

0 (0.0)

0 (0.0)

65 (85.5)

CTLA4

rs1863800

C

T

0.79

37.3

24 (38.1)

31 (49.2)

8 (12.7)

2 (3.1)

65 (85.5)

CTLA4

rs231775

A

G

0.19

39.8

26 (40.6)

25 (39.1)

13 (20.3)

1 (1.5)

65 (85.5)

CTLA4

rs3087243

G

A

1.00

36.5

25 (39.7)

30 (47.6)

8 (12.7)

2 (3.1)

65 (85.5)

CTLA4

rs4553808

A

G

0.30

23.4

39 (60.9)

20 (31.2)

5 (7.8)

1 (1.5)

65 (85.5)

IFNAR1

rs2257167

G

C

0.75

26.2

36 (55.4)

24 (36.9)

5 (7.7)

0 (0.0)

65 (85.5)

IFNAR2

rs7279064

T

G

0.01

34.6

23 (35.4)

39 (60.0)

3 (4.6)

0 (0.0)

65 (85.5)

IFNG

rs2069705

T

C

0.58

34.6

29 (44.6)

27 (41.5)

9 (13.8)

0 (0.0)

65 (85.5)

IFNG

rs2430561

A

T

0.80

46.9

17 (26.6)

34 (53.1)

13 (20.3)

1 (1.5)

65 (85.5)

IL23R

rs1004819

C

T

0.44

38.5

26 (40.0)

28 (43.1)

11 (16.9)

0 (0.0)

65 (85.5)

IL23R

rs11209026

G

A

1.00

7.7

55 (84.6)

10 (15.4)

0 (0.0)

0 (0.0)

65 (85.5)

IL23R

rs2201841

T

C

0.59

35.9

25 (39.1)

32 (50.0)

7 (10.9)

1 (1.5)

65 (85.5)

IL23R

rs7517847

T

G

0.43

39.8

25 (39.1)

27 (42.2)

12 (18.8)

1 (1.5)

65 (85.5)

NOD2

rs2066844

C

T

1.00

1.5

63 (96.9)

2 (3.1)

0 (0.0)

0 (0.0)

65 (85.5)

NOD2

rs2066845

G

C

1.00

1.6

62 (96.9)

2 (3.1)

0 (0.0)

1 (1.5)

65 (85.5)

NOD2

rs5743293

D

I

1.00

2.3

62 (95.4)

3 (4.6)

0 (0.0)

0 (0.0)

65 (85.5)

PTPN22

rs2476601

G

A

1.00

4.6

59 (90.8)

6 (9.2)

0 (0.0)

0 (0.0)

65 (85.5)

  1. 11 = major-allele homozygote; 12 = heterozygote; 22 = minor-allele homozygote.
  2. Denominator for Minor Allele Percent is number of known alleles in row.
  3. Denominator for percents in columns "11", "12", and "22" is number of patients in row who have a known genotype.
  4. Denominator for percents in column "Genotype Unknown" is total number of patients in row.
  5. Denominator for percents in column "Total" is total number of patients with genotype data.
  6. rs1799987 is also known as rs28897671; rs2430561 is also known as (+ 874A- > T); CCR5d32 = rs333.