Table 1 Minor allele and genotype frequencies of single nucleotide polymorphisms in genes related to the IGF pathway in subcohort members from the Netherlands Cohort Study (1986–2002)a.

From: Genetic Variants in the Insulin-like Growth Factor Pathway and Colorectal Cancer Risk in the Netherlands Cohort Study

Variant

Gene

Gene location

Major allele

Minor allele

MAF

Homozygous common genotype N (%)

Heterozygous genotype N (%)

Heterozygous genotype N (%)

P for HWE

Unfavorable allele as based on literatureb

rs1520220

IGF1

12q23.2

C

G

0.18

2,292 (67.6)

989 (29.2)

110 (3.2)

0.79

Minor

rs5742678

IGF1

12q23.2

C

G

0.25

1,921 (56.7)

1,250 (36.9)

220 (6.5)

0.39

Minor

rs5742694

IGF1

12q23.2

T

G

0.23

2,019 (59.5)

1,172 (34.6)

200 (5.9)

0.09

Minor

rs10735380

IGF1

12q23.2

A

G

0.26

1,886 (55.6)

1,271 (37.5)

234 (6.9)

0.32

Minor

rs2854744

IGFBP3

7p13-p12

C

A

0.45

1,002 (29.6)

1,695 (50.0)

693 (20.4)

0.63

Major

rs2132572

IGFBP3

7p13-p12

G

A

0.23

2,006 (59.2)

1,198 (35.3)

187 (5.5)

0.64

Minor

rs35440925

IGFBP3

7p13-p12

C

G

0.21

2,110 (62.2)

1,137 (33.5)

144 (4.3)

0.55

Unclear

rs1801278

IRS1

2q36

G

A

0.07

2,926 (86.3)

450 (13.3)

15 (0.4)

0.60

Minor

rs1805097

IRS2

13q34

G

A

0.35

1,431 (42.4)

1,530 (45.3)

416 (12.3)

0.82

Major

rs2289046

IRS2

13q34

A

G

0.34

1,466 (43.2)

1,538 (45.4)

387 (11.4)

0.59

Major

rs754204

IRS2

13q34

C

T

0.48

906 (27.2)

1,689 (50.6)

740 (22.2)

0.37

Minor

rs4773082

IRS2

13q34

T

C

0.43

994 (32.2)

1,518 (49.1)

578 (18.7)

0.97

Minor

rs4988496

GHRHR

7p14

G

A

0.06

3,008 (88.7)

371 (10.9)

11 (0.3)

0.90

Minor

rs1801282

PPARG

3p25

C

G

0.12

2,607 (76.9)

739 (21.8)

43 (1.3)

0.25

Major

rs1501299

ADIPOQ

3q27

C

A

0.26

1,852 (54.6)

1,290 (38.0)

249 (7.3)

0.24

Major

rs2241766

ADIPOQ

3q27

T

G

0.12

2,630 (77.9)

707 (21.0)

38 (1.1)

0.21

Unclear

rs266729

ADIPOQ

3q27

C

G

0.26

1,860 (54.9)

1,300 (38.3)

231 (6.8)

0.85

Major

rs1648707

ADIPOQ

3q27

A

C

0.33

1,526 (45.0)

1,500 (44.2)

365 (10.8)

0.90

Minor

rs182052

ADIPOQ

3q27

G

A

0.33

1,519 (44.8)

1,501 (44.3)

371 (10.9)

0.99

Unclear

rs1342387

ADIPOR1

1q32.1

G

A

0.45

986 (29.1)

1,744 (51.5)

660 (19.5)

0.02

Major

rs7539542

ADIPOR1

1q32.1

C

G

0.30

1,637 (48.4)

1,440 (42.6)

305 (9.0)

0.65

Unclear

rs12733285

ADIPOR1

1q32.1

C

T

0.29

1,707 (50.4)

1,418 (41.9)

260 (7.7)

0.14

Major

rs1044471

ADIPOR2

12p13.31

C

T

0.46

981 (29.0)

1,681 (49.7)

723 (21.4)

0.95

Unclear

rs767870

ADIPOR2

12p13.31

T

C

0.18

2,280 (67.3)

1,013 (29.9)

97 (2.9)

0.22

Unclear

  1. Abbreviations: ADIPOQ, adiponectin; ADIPOR1 and -2, adiponectin receptor 1 and 2; GHRHR, growth hormone releasing hormone receptor; HWE, Hardy-Weinberg equilibrium; IGF, insulin-like growth factor; IGF1, insulin-like growth factor 1; IGFBP3, insulin-like growth factor binding protein 3; IRS1 and -2, insulin receptor substrate 1 and 2; MAF, minor allele frequency; N, number of; PPARG, peroxisome proliferator-activated receptor gamma
  2. aFrequencies are presented for men and women together because none of these germline genetic variants were located on sex chromosomes.
  3. bA reference list on the basis of which the unfavorable allele was defined is included in the Supplementary Table 1.
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