Table 2 Results of TreeWAS and effect estimates of the comparison between the top risk quartile and the bottom risk quartile.

From: Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank

 

TreeWAS analysis

Comparison of odds of disease between the top CRC risk quartile and the bottom risk quartile

Meaning

max_b

b_ci_lhs

b_ci_rhs

POST_ACTIVE

OR (95% CI)

P

Block D00–D09 in situ neoplasms

0.03

0.03

0.05

0.86

/

/

D01 Carcinoma in situ of other and unspecified digestive organs

0.95

0.70

1.20

1.00

/

/

D01.0 Colon

0.95

0.70

1.20

1.00

4.67 (2.27, 9.59)

7.41 × 10−06

D01.1 Rectosigmoid junctiona

0.95

0.70

1.20

0.96

/

/

D01.2 Rectum

0.95

0.70

1.20

1.00

2.83 (1.47, 5.47)

1.96 × 10−03

Block D10–D36 Benign neoplasms

0.03

0.03

0.05

0.90

/

/

D12 Benign neoplasm of colon, rectum, anus and anal canal

0.63

0.61

0.66

1.00

/

/

D12.0 Caecum

0.63

0.61

0.66

1.00

2.59 (2.24, 3.00)

3.64 × 10−40

D12.2 Ascending colon

0.63

0.61

0.66

1.00

2.82 (2.44, 3.25)

5.34 × 10−50

D12.3 Transverse colon

0.63

0.61

0.66

1.00

2.76 (2.44, 3.13)

6.51 × 10−62

D12.4 Descending colon

0.63

0.61

0.66

1.00

2.73 (2.31, 3.23)

1.77 × 10−34

D12.5 Sigmoid colon

0.63

0.61

0.66

1.00

2.32 (2.12, 2.53)

1.09 × 10−82

D12.6 Colon, unspecified

0.63

0.61

0.66

1.00

2.16 (1.88, 2.47)

6.08 × 10−30

D12.7 Rectosigmoid junction

0.63

0.61

0.66

1.00

2.49 (1.78, 3.50)

7.02 × 10−08

D12.8 Rectum

0.63

0.61

0.66

1.00

2.60 (2.32, 2.92)

1.32 × 10−63

Block D37–D48 Neoplasms of uncertain or unknown behaviour

0.03

0.03

0.05

0.66

/

/

D37 Neoplasm of uncertain or unknown behaviour of oral cavity and digestive organs

0.03

0.02

0.99

0.85

/

/

D37.4 Colon

0.78

0.55

0.99

1.00

2.87 (1.91, 4.32)

1.94 × 10−07

D37.5 Rectum

0.80

0.60

1.16

1.00

4.23 (2.66, 6.73)

6.58 × 10−11

Block K55–K64 Other diseases of intestines

0.03

0.02

0.13

0.98

/

/

K57 Diverticular disease of intestine

0.11

0.08

0.14

1.00

/

/

K57.3 Diverticular disease of large intestine without perforation or abscess

0.11

0.08

0.14

1.00

1.19 (1.14, 1.23)

2.05 × 10−19

K57.9 Diverticular disease of intestine, part unspecified, without perforation or abscess

0.11

0.08

0.14

1.00

1.14 (1.06, 1.22)

2.90 × 10−04

K62 Other diseases of anus and rectum

0.03

0.02

0.12

0.63

/

/

K62.1 Rectal polyp

0.41

0.37

0.46

1.00

1.79 (1.66, 1.93)

6.37 × 10−53

K63 Other diseases of intestine

0.03

0.03

0.13

0.95

/

/

K63.5 Polyp of colon

0.43

0.40

0.46

1.00

1.84 (1.74, 1.95)

2.09 × 10−104

  1. max_b maximum a posteriori effect estimates (beta) and the 95% credible interval (b_ci_lhs, b_ci_rhs), POST_ACTIVE posterior probability for the beta estimate in the tree analysis not being zero, OR odds ratio, CI confidence interval, CRC colorectal cancer.
  2. aNumber of cases in either the top risk quartile or the bottom risk quartile is 0.
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