Gene
|
Selection criteria
|
Number of carriers with loss-of-function variants
|
Number of carriers with missense variants
|
---|
Case
|
Control
|
p Valuea
|
OR
|
95% CI
|
Case
|
Control
|
p Valuea
|
OR
|
95% CI
|
---|
TET2
|
GWAS proposed
|
5
|
2
|
0.456
|
2.27
|
0.37–23.87
|
20
|
18
|
1
|
1.01
|
0.50–2.03
|
NRIP1
|
GWAS proposed
|
3
|
0
|
0.251
|
Und
|
0.37–∞
|
21
|
17
|
0.632
|
1.12
|
0.56–2.28
|
RAD51B
|
GWAS proposed
|
2
|
0
|
0.501
|
Und
|
0.17–∞
|
6
|
4
|
0.756
|
1.36
|
0.32–6.57
|
SNX32
|
Neighbouring genes
|
2
|
0
|
0.501
|
Und
|
0.17–∞
|
3
|
6
|
0.323
|
0.45
|
0.07–2.12
|
ZNF226
|
Neighbouring genes
|
2
|
2
|
1
|
0.91
|
0.07–12.5
|
24
|
18
|
0.640
|
1.21
|
0.63–2.39
|
ADAM29
|
GWAS proposed
|
1
|
0
|
1
|
Und
|
0.02–∞
|
13
|
11
|
1
|
1.07
|
0.44–2.65
|
CASP8
|
GWAS proposed
|
1
|
0
|
1
|
Und
|
0.02–∞
|
8
|
2
|
0.113
|
3.64
|
0.72–35.26
|
CDKN2A
|
GWAS proposed
|
1
|
0
|
1
|
Und
|
0.02–∞
|
3
|
3
|
1
|
0.91
|
0.12–6.77
|
DCLRE1B
|
Neighbouring genes
|
1
|
1
|
1
|
0.91
|
0.01–71.08
|
7
|
6
|
1
|
1.06
|
0.30–3.82
|
FTO
|
GWAS proposed
|
1
|
0
|
1
|
Und
|
0.02–∞
|
10
|
11
|
0.668
|
0.82
|
0.31–2.14
|
LGR6
|
GWAS proposed
|
1
|
0
|
1
|
Und
|
0.02–∞
|
16
|
8
|
0.217
|
1.82
|
0.73–4.94
|
MUS81
|
Neighbouring genes
|
1
|
1
|
1
|
0.91
|
0.01–71.08
|
8
|
9
|
0.808
|
0.80
|
0.27–2.36
|
NFRKB
|
Neighbouring genes
|
1
|
1
|
1
|
0.91
|
0.01–71.08
|
17
|
12
|
0.577
|
1.29
|
0.58–2.97
|
PDE4D
|
GWAS proposed
|
1
|
0
|
1
|
Und
|
0.02–∞
|
6
|
3
|
0.512
|
1.81
|
0.39–11.24
|
SETMAR
|
Neighbouring genes
|
1
|
2
|
0.607
|
0.45
|
0.01–8.70
|
7
|
3
|
0.349
|
2.12
|
0.48–12.73
|
SLC4A7
|
GWAS proposed
|
1
|
0
|
1
|
Und
|
0.02–∞
|
14
|
10
|
0.682
|
1.27
|
0.52–3.21
|
USHBP1
|
Neighbouring genes
|
1
|
1
|
1
|
0.91
|
0.01–71.08
|
14
|
11
|
0.841
|
1.15
|
0.48–2.82
|
CDKN2B
|
GWAS proposed
|
0
|
1
|
0.475
|
0
|
0–35.30
|
1
|
1
|
1
|
0.91
|
0.01–71.08
|
TCF7L2
|
GWAS proposed
|
0
|
1
|
0.475
|
0
|
0–35.30
|
5
|
8
|
0.406
|
0.56
|
0.14–1.96
|
TPK1
|
Neighbouring genes
|
0
|
1
|
0.475
|
0
|
0–35.30
|
2
|
2
|
1
|
0.91
|
0.07–12.50
|
ZNF283
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
17
|
6
|
0.057
|
2.59
|
0.97–8.06
|
HNF4G
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
4
|
1
|
0.377
|
3.63
|
0.36–178.82
|
TERT
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
5
|
6
|
0.765
|
0.75
|
0.18–2.97
|
UNC13A
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
17
|
8
|
0.158
|
1.94
|
0.79–5.21
|
LSP1
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
11
|
15
|
0.327
|
0.66
|
0.27–1.55
|
XRCC1
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
6
|
12
|
0.153
|
0.45
|
0.14–1.30
|
ZMIZ1
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
15
|
11
|
0.694
|
1.24
|
0.53–3.00
|
EMID1
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
11
|
8
|
0.654
|
1.25
|
0.46–3.59
|
FGFR2
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
4
|
4
|
1
|
0.91
|
0.17–4.87
|
CCDC88C
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
38
|
45
|
0.219
|
0.76
|
0.47–1.20
|
ITPR1
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
17
|
20
|
0.507
|
0.77
|
0.37–1.55
|
MKL1
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
26
|
19
|
0.547
|
1.24
|
0.66–2.40
|
CHST9
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
7
|
9
|
0.617
|
0.70
|
0.22–2.13
|
PEX14
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
9
|
6
|
0.613
|
1.36
|
0.43–4.66
|
PAX9
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
3
|
7
|
0.207
|
0.39
|
0.06–1.70
|
PTHLH
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
3
|
1
|
0.626
|
2.72
|
0.22–142.85
|
CDCA7
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
5
|
3
|
0.729
|
1.51
|
0.29–9.76
|
MAP3K1
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
20
|
11
|
0.206
|
1.66
|
0.75–3.85
|
RANBP9
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
10
|
5
|
0.309
|
1.82
|
0.56–6.80
|
DNAJC1
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
8
|
9
|
0.808
|
0.80
|
0.27–2.36
|
TOX3
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
7
|
7
|
1
|
0.90
|
0.27–3.03
|
EPB41L5
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
8
|
8
|
1
|
0.90
|
0.29–2.78
|
ESR1
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
3
|
6
|
0.323
|
0.45
|
0.07–2.12
|
MDM4
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
7
|
3
|
0.349
|
2.12
|
0.48–12.73
|
CDYL2
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
11
|
5
|
0.217
|
2
|
0.64–7.37
|
TNP1
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
0
|
2
|
0.226
|
0
|
0–4.82
|
BABAM1
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
4
|
3
|
1
|
1.21
|
0.20–8.27
|
TGFBR2
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
4
|
3
|
1
|
1.21
|
0.20–8.27
|
ELL
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
9
|
5
|
0.430
|
1.63
|
0.49–6.23
|
NF2
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
12
|
5
|
0.150
|
2.19
|
0.71–7.95
|
KCNN4
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
8
|
4
|
0.393
|
1.82
|
0.49–8.27
|
DLX2
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
7
|
4
|
0.553
|
1.59
|
0.40–7.42
|
KAT5
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
3
|
2
|
1
|
1.36
|
0.16–16.29
|
COX11
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
2
|
1
|
1
|
1.81
|
0.09–106.93
|
EBF1
|
GWAS proposed
|
–
|
–
|
–
|
–
|
–
|
2
|
3
|
0.673
|
0.60
|
0.05–5.27
|
RAD23B
|
Neighbouring genes
|
–
|
–
|
–
|
–
|
–
|
0
|
1
|
0.475
|
0
|
0–35.30
|
GWAS proposed genes
|
–
|
17
|
4
|
0.008
|
3.89
|
1.26–15.95
|
287
|
251
|
0.679b
|
1.05
|
0.86–1.28
|
Neighbouring genes
|
–
|
9
|
9
|
1
|
0.90
|
0.32–2.58
|
168
|
138
|
0.392b
|
1.12
|
0.87–1.44
|
Total
|
–
|
26
|
13
|
0.077
|
1.83
|
0.90–3.90
|
406
|
353
|
0.512b
|
1.07
|
0.89–1.28
|
- Abbreviations: GWAS Genome-wide association study, Und undefined
- aFisher’s exact test, two-sided
- bPearson’s chi-square test with the Yates correction