Table 1 Open in new tab GWAS,...

Discovery stage	Replication	Meta-analysis	Meta-analysis with DKD adjustment^a
rs1970112	9:22085598_T/C	CDKN2B-AS1	0.41	1.32 (1.2–1.46)	1.50 × 10⁻⁸	0.98	434/3123	0.46	0.09	+ +++	1.27 (1.17–1.38)	1.19 × 10⁻⁸	1.28 (1.18–1.39)	1.91 × 10⁻⁹
rs181176493	2:224157866_G/A	TRK-TTT15-1(pseudo), KCNE4*^†	0.01	3.88 (2.33–6.47)	1.98 × 10⁻⁷	0.80	–	–	–	+ ???	3.88 (2.33–6.47)	1.98 × 10⁻⁷	3.62 (2.19–5.98)	4.91 × 10⁻⁷
rs70962766	2:62406999_ CTTTTTTTTTTTT/C	RPSA26(pseudo), B3GNT2	0.99	0.2 (0.11–0.37)	4.68 × 10⁻⁷	0.64	–	–	–	− ???	0.2 (0.11–0.37)	4.68 × 10⁻⁷	0.47 (0.29–0.75)	0.0017
rs138181578	6:45725830_A/AT	LOC107986519^†, CLIC5^†	0.99	0.18 (0.09–0.35)	6.78 × 10⁻⁷	0.77	–	–	–	− ???	0.18 (0.09–0.35)	6.78 × 10⁻⁷	0.36 (0.22–0.60)	8.33 × 10⁻⁵
rs10625784	11:106193897_T/TAAA	LOC643855, AASDHPPT*^†	0.99	0.23 (0.13–0.42)	7.63 × 10⁻⁷	0.83	–	–	–	− ???	0.23 (0.13–0.42)	7.63 × 10⁻⁷	0.44 (0.28–0.70)	0.00045
rs79237700	15:53741612_T/C	LOC105370826, WDR72*	0.04	1.97 (1.51–2.55)	3.86 × 10⁻⁷	0.75	237/632	0.17	0.79	+ −??	1.82 (1.42–2.33)	2.23 × 10⁻⁶	1.76 (1.37–2.25)	6.88 × 10⁻⁶
rs574480779	5:154390880_TA/T	KIF4B	0.03	2.27 (1.64–3.15)	9.36 × 10⁻⁷	0.69	–	–	–	+ ???	2.27 (1.64–3.15)	9.36 × 10⁻⁷	2.14 (1.56–2.95)	2.91 × 10⁻⁶
rs1344228	2:124286924_C/T	LOC100422580^†, CNTNAP5^‡	0.11	1.46 (1.26–1.69)	5.64 × 10⁻⁷	1.00	434/3123	0.33	0.71	+ −++	1.33 (1.17–1.51)	8.68 × 10⁻⁶	1.33 (1.17–1.50)	8.30 × 10⁻⁶
rs6055069	20:134284_T/C	DEFB127	0.98	0.24 (0.15–0.38)	2.35 × 10⁻⁹	0.62	322/1917	0.95	0.74	− +?−	0.38 (0.25–0.56)	1.36 × 10⁻⁶	0.49 (0.35–0.70)	9.80 × 10⁻⁵
rs2112481	5:125691632_T/G	GRAMD2B	0.99	0.10 (0.04–0.23)	6.98 × 10⁻⁸	0.63	434/3123	1	0.35	− +−+	0.67 (0.43–1.01)	0.058	0.73 (0.50–1.06)	0.097

Discovery stage

Replication

Meta-analysis

Meta-analysis with DKD adjustment^a

SNP

Chr:Pos_REF/ALT

Gene

EAF

OR (95% CI)

P-value

RSQ

Power

P-value

Dir

OR (95% CI)

P-value

OR (95% CI)

P-value

rs1970112

9:22085598_T/C

CDKN2B-AS1

0.41

1.32 (1.2–1.46)

1.50 × 10⁻⁸

0.98

434/3123

0.46

0.09

+ +++

1.27 (1.17–1.38)

1.19 × 10⁻⁸

1.28 (1.18–1.39)

1.91 × 10⁻⁹

rs181176493

2:224157866_G/A

TRK-TTT15-1(pseudo)*, KCNE4^†

0.01

3.88 (2.33–6.47)

1.98 × 10⁻⁷

0.80

–

+ ???

3.88 (2.33–6.47)

1.98 × 10⁻⁷

3.62 (2.19–5.98)

4.91 × 10⁻⁷

rs70962766

2:62406999_ CTTTTTTTTTTTT/C

RPSA26(pseudo)*, B3GNT2*

0.99

0.2 (0.11–0.37)

4.68 × 10⁻⁷

0.64

–

− ???

0.2 (0.11–0.37)

4.68 × 10⁻⁷

0.47 (0.29–0.75)

0.0017

rs138181578

6:45725830_A/AT

LOC107986519^†, CLIC5^†

0.99

0.18 (0.09–0.35)

6.78 × 10⁻⁷

0.77

–

− ???

0.18 (0.09–0.35)

6.78 × 10⁻⁷

0.36 (0.22–0.60)

8.33 × 10⁻⁵

rs10625784

11:106193897_T/TAAA

LOC643855*, AASDHPPT^†

0.99

0.23 (0.13–0.42)

7.63 × 10⁻⁷

0.83

–

− ???

0.23 (0.13–0.42)

7.63 × 10⁻⁷

0.44 (0.28–0.70)

0.00045

rs79237700

15:53741612_T/C

LOC105370826, WDR72*

0.04

1.97 (1.51–2.55)

3.86 × 10⁻⁷

0.75

237/632

0.17

0.79

+ −??

1.82 (1.42–2.33)

2.23 × 10⁻⁶

1.76 (1.37–2.25)

6.88 × 10⁻⁶

rs574480779

5:154390880_TA/T

KIF4B

0.03

2.27 (1.64–3.15)

9.36 × 10⁻⁷

0.69

–

+ ???

2.27 (1.64–3.15)

9.36 × 10⁻⁷

2.14 (1.56–2.95)

2.91 × 10⁻⁶

rs1344228

2:124286924_C/T

LOC100422580^†, CNTNAP5^‡

0.11

1.46 (1.26–1.69)

5.64 × 10⁻⁷

1.00

434/3123

0.33

0.71

+ −++

1.33 (1.17–1.51)

8.68 × 10⁻⁶

1.33 (1.17–1.50)

8.30 × 10⁻⁶

rs6055069

20:134284_T/C

DEFB127

0.98

0.24 (0.15–0.38)

2.35 × 10⁻⁹

0.62

322/1917

0.95

0.74

− +?−

0.38 (0.25–0.56)

1.36 × 10⁻⁶

0.49 (0.35–0.70)

9.80 × 10⁻⁵

rs2112481

5:125691632_T/G

GRAMD2B

0.99

0.10 (0.04–0.23)

6.98 × 10⁻⁸

0.63

434/3123

0.35

− +−+

0.67 (0.43–1.01)

0.058

0.73 (0.50–1.06)

0.097

Discovery stage	Replication	Meta-analysis	Meta-analysis with DKD adjustment^a
rs1970112	9:22085598_T/C	CDKN2B-AS1	0.41	1.32 (1.2–1.46)	1.50 × 10⁻⁸	0.98	434/3123	0.46	0.09	+ +++	1.27 (1.17–1.38)	1.19 × 10⁻⁸	1.28 (1.18–1.39)	1.91 × 10⁻⁹
rs181176493	2:224157866_G/A	TRK-TTT15-1(pseudo), KCNE4*^†	0.01	3.88 (2.33–6.47)	1.98 × 10⁻⁷	0.80	–	–	–	+ ???	3.88 (2.33–6.47)	1.98 × 10⁻⁷	3.62 (2.19–5.98)	4.91 × 10⁻⁷
rs70962766	2:62406999_ CTTTTTTTTTTTT/C	RPSA26(pseudo), B3GNT2	0.99	0.2 (0.11–0.37)	4.68 × 10⁻⁷	0.64	–	–	–	− ???	0.2 (0.11–0.37)	4.68 × 10⁻⁷	0.47 (0.29–0.75)	0.0017
rs138181578	6:45725830_A/AT	LOC107986519^†, CLIC5^†	0.99	0.18 (0.09–0.35)	6.78 × 10⁻⁷	0.77	–	–	–	− ???	0.18 (0.09–0.35)	6.78 × 10⁻⁷	0.36 (0.22–0.60)	8.33 × 10⁻⁵
rs10625784	11:106193897_T/TAAA	LOC643855, AASDHPPT*^†	0.99	0.23 (0.13–0.42)	7.63 × 10⁻⁷	0.83	–	–	–	− ???	0.23 (0.13–0.42)	7.63 × 10⁻⁷	0.44 (0.28–0.70)	0.00045
rs79237700	15:53741612_T/C	LOC105370826, WDR72*	0.04	1.97 (1.51–2.55)	3.86 × 10⁻⁷	0.75	237/632	0.17	0.79	+ −??	1.82 (1.42–2.33)	2.23 × 10⁻⁶	1.76 (1.37–2.25)	6.88 × 10⁻⁶
rs574480779	5:154390880_TA/T	KIF4B	0.03	2.27 (1.64–3.15)	9.36 × 10⁻⁷	0.69	–	–	–	+ ???	2.27 (1.64–3.15)	9.36 × 10⁻⁷	2.14 (1.56–2.95)	2.91 × 10⁻⁶
rs1344228	2:124286924_C/T	LOC100422580^†, CNTNAP5^‡	0.11	1.46 (1.26–1.69)	5.64 × 10⁻⁷	1.00	434/3123	0.33	0.71	+ −++	1.33 (1.17–1.51)	8.68 × 10⁻⁶	1.33 (1.17–1.50)	8.30 × 10⁻⁶
rs6055069	20:134284_T/C	DEFB127	0.98	0.24 (0.15–0.38)	2.35 × 10⁻⁹	0.62	322/1917	0.95	0.74	− +?−	0.38 (0.25–0.56)	1.36 × 10⁻⁶	0.49 (0.35–0.70)	9.80 × 10⁻⁵
rs2112481	5:125691632_T/G	GRAMD2B	0.99	0.10 (0.04–0.23)	6.98 × 10⁻⁸	0.63	434/3123	1	0.35	− +−+	0.67 (0.43–1.01)	0.058	0.73 (0.50–1.06)	0.097

Table 1

Open in new tab

GWAS, replication and meta-analysis results for loci reaching P < 10⁻⁶ in the discovery GWAS

Discovery stage							Replication			Meta-analysis			Meta-analysis with DKD adjustment^a
SNP	Chr:Pos_REF/ALT	Gene	EAF	OR (95% CI)	P-value	RSQ	N	Power	P-value	Dir	OR (95% CI)	P-value	OR (95% CI)	P-value
rs1970112	9:22085598_T/C	CDKN2B-AS1	0.41	1.32 (1.2–1.46)	1.50 × 10⁻⁸	0.98	434/3123	0.46	0.09	+ +++	1.27 (1.17–1.38)	1.19 × 10⁻⁸	1.28 (1.18–1.39)	1.91 × 10⁻⁹
rs181176493	2:224157866_G/A	TRK-TTT15-1(pseudo), KCNE4*^†	0.01	3.88 (2.33–6.47)	1.98 × 10⁻⁷	0.80	–	–	–	+ ???	3.88 (2.33–6.47)	1.98 × 10⁻⁷	3.62 (2.19–5.98)	4.91 × 10⁻⁷
rs70962766	2:62406999_ CTTTTTTTTTTTT/C	RPSA26(pseudo), B3GNT2	0.99	0.2 (0.11–0.37)	4.68 × 10⁻⁷	0.64	–	–	–	− ???	0.2 (0.11–0.37)	4.68 × 10⁻⁷	0.47 (0.29–0.75)	0.0017
rs138181578	6:45725830_A/AT	LOC107986519^†, CLIC5^†	0.99	0.18 (0.09–0.35)	6.78 × 10⁻⁷	0.77	–	–	–	− ???	0.18 (0.09–0.35)	6.78 × 10⁻⁷	0.36 (0.22–0.60)	8.33 × 10⁻⁵
rs10625784	11:106193897_T/TAAA	LOC643855, AASDHPPT*^†	0.99	0.23 (0.13–0.42)	7.63 × 10⁻⁷	0.83	–	–	–	− ???	0.23 (0.13–0.42)	7.63 × 10⁻⁷	0.44 (0.28–0.70)	0.00045
rs79237700	15:53741612_T/C	LOC105370826, WDR72*	0.04	1.97 (1.51–2.55)	3.86 × 10⁻⁷	0.75	237/632	0.17	0.79	+ −??	1.82 (1.42–2.33)	2.23 × 10⁻⁶	1.76 (1.37–2.25)	6.88 × 10⁻⁶
rs574480779	5:154390880_TA/T	KIF4B	0.03	2.27 (1.64–3.15)	9.36 × 10⁻⁷	0.69	–	–	–	+ ???	2.27 (1.64–3.15)	9.36 × 10⁻⁷	2.14 (1.56–2.95)	2.91 × 10⁻⁶
rs1344228	2:124286924_C/T	LOC100422580^†, CNTNAP5^‡	0.11	1.46 (1.26–1.69)	5.64 × 10⁻⁷	1.00	434/3123	0.33	0.71	+ −++	1.33 (1.17–1.51)	8.68 × 10⁻⁶	1.33 (1.17–1.50)	8.30 × 10⁻⁶
rs6055069	20:134284_T/C	DEFB127	0.98	0.24 (0.15–0.38)	2.35 × 10⁻⁹	0.62	322/1917	0.95	0.74	− +?−	0.38 (0.25–0.56)	1.36 × 10⁻⁶	0.49 (0.35–0.70)	9.80 × 10⁻⁵
rs2112481	5:125691632_T/G	GRAMD2B	0.99	0.10 (0.04–0.23)	6.98 × 10⁻⁸	0.63	434/3123	1	0.35	− +−+	0.67 (0.43–1.01)	0.058	0.73 (0.50–1.06)	0.097

Discovery stage							Replication			Meta-analysis			Meta-analysis with DKD adjustment^a
SNP	Chr:Pos_REF/ALT	Gene	EAF	OR (95% CI)	P-value	RSQ	N	Power	P-value	Dir	OR (95% CI)	P-value	OR (95% CI)	P-value
rs1970112	9:22085598_T/C	CDKN2B-AS1	0.41	1.32 (1.2–1.46)	1.50 × 10⁻⁸	0.98	434/3123	0.46	0.09	+ +++	1.27 (1.17–1.38)	1.19 × 10⁻⁸	1.28 (1.18–1.39)	1.91 × 10⁻⁹
rs181176493	2:224157866_G/A	TRK-TTT15-1(pseudo), KCNE4*^†	0.01	3.88 (2.33–6.47)	1.98 × 10⁻⁷	0.80	–	–	–	+ ???	3.88 (2.33–6.47)	1.98 × 10⁻⁷	3.62 (2.19–5.98)	4.91 × 10⁻⁷
rs70962766	2:62406999_ CTTTTTTTTTTTT/C	RPSA26(pseudo), B3GNT2	0.99	0.2 (0.11–0.37)	4.68 × 10⁻⁷	0.64	–	–	–	− ???	0.2 (0.11–0.37)	4.68 × 10⁻⁷	0.47 (0.29–0.75)	0.0017
rs138181578	6:45725830_A/AT	LOC107986519^†, CLIC5^†	0.99	0.18 (0.09–0.35)	6.78 × 10⁻⁷	0.77	–	–	–	− ???	0.18 (0.09–0.35)	6.78 × 10⁻⁷	0.36 (0.22–0.60)	8.33 × 10⁻⁵
rs10625784	11:106193897_T/TAAA	LOC643855, AASDHPPT*^†	0.99	0.23 (0.13–0.42)	7.63 × 10⁻⁷	0.83	–	–	–	− ???	0.23 (0.13–0.42)	7.63 × 10⁻⁷	0.44 (0.28–0.70)	0.00045
rs79237700	15:53741612_T/C	LOC105370826, WDR72*	0.04	1.97 (1.51–2.55)	3.86 × 10⁻⁷	0.75	237/632	0.17	0.79	+ −??	1.82 (1.42–2.33)	2.23 × 10⁻⁶	1.76 (1.37–2.25)	6.88 × 10⁻⁶
rs574480779	5:154390880_TA/T	KIF4B	0.03	2.27 (1.64–3.15)	9.36 × 10⁻⁷	0.69	–	–	–	+ ???	2.27 (1.64–3.15)	9.36 × 10⁻⁷	2.14 (1.56–2.95)	2.91 × 10⁻⁶
rs1344228	2:124286924_C/T	LOC100422580^†, CNTNAP5^‡	0.11	1.46 (1.26–1.69)	5.64 × 10⁻⁷	1.00	434/3123	0.33	0.71	+ −++	1.33 (1.17–1.51)	8.68 × 10⁻⁶	1.33 (1.17–1.50)	8.30 × 10⁻⁶
rs6055069	20:134284_T/C	DEFB127	0.98	0.24 (0.15–0.38)	2.35 × 10⁻⁹	0.62	322/1917	0.95	0.74	− +?−	0.38 (0.25–0.56)	1.36 × 10⁻⁶	0.49 (0.35–0.70)	9.80 × 10⁻⁵
rs2112481	5:125691632_T/G	GRAMD2B	0.99	0.10 (0.04–0.23)	6.98 × 10⁻⁸	0.63	434/3123	1	0.35	− +−+	0.67 (0.43–1.01)	0.058	0.73 (0.50–1.06)	0.097

−, protection; ?, data not available; +, predisposition; Chr:Pos_REF/ALT, chromosome and base pair position, reference/alternative (=non-effect/effect) allele; Dir, effect direction (for effect i.e. alternative allele) in FinnDiane, SDCC, UK-ROI, and French; EAF, effect (alternative) allele frequency; Gene, closest gene(s) underlying or within the promoter region (5kbp upstream), or *within ±50kbp, ^†within ±250kbp, or ^‡within ±500kbp; N, Ncases/controls in replication; OR (95% CI), odds ratio and 95% confidence interval; Power, statistical power to observe association with α = 0.05/5 = 0.01 significance level, based on discovery study EAF and 95% lower CI of OR, and 12.2%, 27.3%, or 14.4% CAD prevalence in corresponding replication cohort; RSQ, imputation r² quality estimate.

N_FinnDaine = 926/3777 in meta-analysis with DKD.

This Feature Is Available To Subscribers Only