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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.