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Table 2 Eleven novel loci associated with abundance from Discovery GWAS and Meta-analyses with p < 5 × 10− 6†

From: Germline genetic regulation of the colorectal tumor immune microenvironment

RSID: CHR: BP

Nearest Gene

Loci

EFF/REF Alleles*

Discovery (MECC)

Replication (CLX)

Replication (CRCGEN)

Meta Analysis

EAF**

OR (95% CI)***

p

EAF

OR (95% CI)***

p

EAF

OR (95% CI)***

p

EAF

OR (95% CI)***

p

PHeterogeneity

rs1518405:2:181016277

CWC22

2q31.3

A/T

0.97

1.59 (1.32–1.91)

8.67E-07

0.97

1.74 (0.74–4.07)

0.2054

0.99

0.97 (0.14–6.56)

0.9737

0.97

1.59 (1.33–1.90)

4.08E-07

0.8602

rs144595725:14:31526087

AP4S1

14q12

A/G

0.99

2.71 (1.82–4.03)

9.37E-07

NA

NA

NA

0.99

3.96 (0.18–88.64)

0.3871

0.99

2.73 (1.84–4.05)

6.11E-07

0.8129

rs56148061:11:61014040

PGA4:PGA5

11q12

A/C

0.04

0.60 (0.49–0.74)

1.30E-06

0.95

0.45 (0.18–1.08)

0.0766

0.95

2.45 (0.42–14.31)

0.3218

0.04

0.60 (0.50–0.74)

6.12E-07

0.2381

rs147844733:17:36994755

C17orf98

17q12

A/T

0.99

2.35 (1.68–3.28)

5.54E-07

NA

NA

NA

1.00

0.36 (0.01–19.56)

0.6191

0.99

2.32 (1.66–3.23)

6.99E-07

0.3604

rs142105062:11:122506047

RP11-266E8.2

11q13.1

T/C

0.01

0.17 (0.09–0.34)

4.29E-07

NA

NA

NA

0.01

1.04 (0.09–12.46)

0.9727

0.01

0.20 (0.10–0.38)

1.04E-06

0.1728

rs577783:6:137918440

BTF3L4P3

6q23.3

A/G

0.37

0.85 (0.80–0.91)

1.36E-06

0.45

1.08 (0.80–1.46)

0.6240

0.41

0.68 (0.45–1.03)

0.0722

0.63

0.86 (0.80–0.91)

1.23E-06

0.1791

rs9770081:7:622706

PRKAR1B

7p22.3

T/G

0.25

0.80 (0.74–0.88)

6.11E-07

NA

NA

NA

0.35

1.82 (0.92–3.62)

0.0887

0.25

0.81 (0.75–0.89)

2.01E-06

0.0206

rs12313375:12:94976499

TMCC3

12q22

A/C

0.98

0.58 (0.46–0.73)

4.56E-06

0.98

0.70 (0.23–2.10)

0.5270

0.99

0.29 (0.04–1.97)

0.2053

0.98

0.58 (0.46–0.73)

2.10E-06

0.7284

rs135429:22:44657217

KIAA1644

22q13.31

T/C

0.31

0.85 (0.79–0.91)

2.49E-06

0.36

0.86 (0.58–1.26)

0.4301

0.36

1.02 (0.66–1.58)

0.9114

0.31

0.85 (0.80–0.91)

2.43E-06

0.7032

rs4495475:8:66165989

RPL31P41

8q13.1

A/C

0.80

1.21 (1.12–1.30)

1.25E-06

0.82

1.03 (0.69–1.53)

0.8851

0.81

0.86 (0.49–1.51)

0.6014

0.80

1.19 (1.11–1.29)

2.73E-06

0.3817

rs190417185:2:74892755

SEMA4F

2p13.1

T/C

0.02

2.08 (1.53–2.82)

2.48E-06

NA

NA

NA

0.01

0 (0.00-3.94)

0.1030

0.02

2.06 (1.52–2.79)

3.18E-06

0.0703

  1. * Effect/Reference Allele
  2. ** Effect allele frequency
  3. *** Odds ratio and 95% Confidence Intervals
  4. † Violin plots for best-call genotypes of each SNP and abundance are included in Supplementary Figure S19