Table 2. Open in new tab Association...

			GWAS (1442 vs 1468)	Replication (2874 vs 2906)	Combined (4316 vs 4374)
rs5912203	78258106	T	0.63	0.56	3.47 × 10⁻⁷	1.34	1.20–1.50	0.63	0.57	1.31 × 10⁻¹⁰	1.28	1.19–1.39	0.63	0.57	8.50 × 10⁻¹⁵	1.30	1.21–1.39
rs12687858	78416403	C	0.72	0.67	1.87 × 10⁻⁵	1.30	1.15–1.46	0.72	0.67	7.27 × 10⁻⁸	1.25	1.15–1.35	0.72	0.67	8.21 × 10⁻¹¹	1.26	1.18–1.35
rs3827440	78426988	T	0.63	0.56	1.64 × 10⁻⁷	1.35	1.21–1.51	0.63	0.57	4.41 × 10⁻¹¹	1.29	1.20–1.39	0.63	0.57	2.45 × 10⁻¹⁵	1.30	1.22–1.39
rs5912838	78497118	A	0.64	0.56	4.15 × 10⁻⁸	1.37	1.22–1.53	0.64	0.58	1.44 × 10⁻⁹	1.26	1.17–1.36	0.64	0.58	1.69 × 10⁻¹⁴	1.29	1.21–1.38
rs5912849	78524009	A	0.66	0.60	8.45 × 10⁻⁶	1.29	1.15–1.44	0.65	0.62	1.56 × 10⁻⁴	1.16	1.07–1.25	0.65	0.61	3.08 × 10⁻⁸	1.20	1.13–1.29
rs6619800	78526120	A	0.61	0.53	1.60 × 10⁻⁷	1.35	1.21–1.51	0.59	0.54	6.62 × 10⁻⁷	1.21	1.12–1.30	0.59	0.53	6.94 × 10⁻¹²	1.25	1.17–1.34
rs5959298	78557332	A	0.71	0.65	6.44 × 10⁻⁵	1.27	1.13–1.43	0.70	0.66	1.12 × 10⁻⁵	1.20	1.10–1.29	0.70	0.66	1.35 × 10⁻⁸	1.22	1.14–1.31
rs6619915	78587587	A	0.50	0.44	2.62 × 10⁻⁵	1.27	1.14–1.42	0.50	0.45	7.22 × 10⁻⁷	1.21	1.12–1.30	0.50	0.45	3.91 × 10⁻¹¹	1.24	1.17–1.33
rs1736645	78597195	C	0.60	0.54	4.44 × 10⁻⁶	1.30	1.16–1.46	0.61	0.55	6.93 × 10⁻⁹	1.25	1.16–1.35	0.61	0.55	5.00 × 10⁻¹³	1.27	1.19–1.36
rs75810848	78609329	C	0.49	0.43	1.47 × 10⁻⁵	1.29	1.15–1.44	0.49	0.44	1.87 × 10⁻⁶	1.20	1.11–1.29	0.49	0.44	4.76 × 10⁻¹⁰	1.23	1.15–1.31

GWAS (1442 vs 1468)

Replication (2874 vs 2906)

Combined (4316 vs 4374)

SNP

Chr. Position

Risk Allele

Case (RAF)

Control (RAF)

95% CI

Case (RAF)

Control (RAF)

95% CI

Case (RAF)

Control (RAF)

95% CI

rs5912203

78258106

0.63

0.56

3.47 × 10⁻⁷

1.34

1.20–1.50

0.63

0.57

1.31 × 10⁻¹⁰

1.28

1.19–1.39

0.63

0.57

8.50 × 10⁻¹⁵

1.30

1.21–1.39

rs12687858

78416403

0.72

0.67

1.87 × 10⁻⁵

1.30

1.15–1.46

0.72

0.67

7.27 × 10⁻⁸

1.25

1.15–1.35

0.72

0.67

8.21 × 10⁻¹¹

1.26

1.18–1.35

rs3827440

78426988

0.63

0.56

1.64 × 10⁻⁷

1.35

1.21–1.51

0.63

0.57

4.41 × 10⁻¹¹

1.29

1.20–1.39

0.63

0.57

2.45 × 10⁻¹⁵

1.30

1.22–1.39

rs5912838

78497118

0.64

0.56

4.15 × 10⁻⁸

1.37

1.22–1.53

0.64

0.58

1.44 × 10⁻⁹

1.26

1.17–1.36

0.64

0.58

1.69 × 10⁻¹⁴

1.29

1.21–1.38

rs5912849

78524009

0.66

0.60

8.45 × 10⁻⁶

1.29

1.15–1.44

0.65

0.62

1.56 × 10⁻⁴

1.16

1.07–1.25

0.65

0.61

3.08 × 10⁻⁸

1.20

1.13–1.29

rs6619800

78526120

0.61

0.53

1.60 × 10⁻⁷

1.35

1.21–1.51

0.59

0.54

6.62 × 10⁻⁷

1.21

1.12–1.30

0.59

0.53

6.94 × 10⁻¹²

1.25

1.17–1.34

rs5959298

78557332

0.71

0.65

6.44 × 10⁻⁵

1.27

1.13–1.43

0.70

0.66

1.12 × 10⁻⁵

1.20

1.10–1.29

0.70

0.66

1.35 × 10⁻⁸

1.22

1.14–1.31

rs6619915

78587587

0.50

0.44

2.62 × 10⁻⁵

1.27

1.14–1.42

0.50

0.45

7.22 × 10⁻⁷

1.21

1.12–1.30

0.50

0.45

3.91 × 10⁻¹¹

1.24

1.17–1.33

rs1736645

78597195

0.60

0.54

4.44 × 10⁻⁶

1.30

1.16–1.46

0.61

0.55

6.93 × 10⁻⁹

1.25

1.16–1.35

0.61

0.55

5.00 × 10⁻¹³

1.27

1.19–1.36

rs75810848

78609329

0.49

0.43

1.47 × 10⁻⁵

1.29

1.15–1.44

0.49

0.44

1.87 × 10⁻⁶

1.20

1.11–1.29

0.49

0.44

4.76 × 10⁻¹⁰

1.23

1.15–1.31

			GWAS (1442 vs 1468)	Replication (2874 vs 2906)	Combined (4316 vs 4374)
rs5912203	78258106	T	0.63	0.56	3.47 × 10⁻⁷	1.34	1.20–1.50	0.63	0.57	1.31 × 10⁻¹⁰	1.28	1.19–1.39	0.63	0.57	8.50 × 10⁻¹⁵	1.30	1.21–1.39
rs12687858	78416403	C	0.72	0.67	1.87 × 10⁻⁵	1.30	1.15–1.46	0.72	0.67	7.27 × 10⁻⁸	1.25	1.15–1.35	0.72	0.67	8.21 × 10⁻¹¹	1.26	1.18–1.35
rs3827440	78426988	T	0.63	0.56	1.64 × 10⁻⁷	1.35	1.21–1.51	0.63	0.57	4.41 × 10⁻¹¹	1.29	1.20–1.39	0.63	0.57	2.45 × 10⁻¹⁵	1.30	1.22–1.39
rs5912838	78497118	A	0.64	0.56	4.15 × 10⁻⁸	1.37	1.22–1.53	0.64	0.58	1.44 × 10⁻⁹	1.26	1.17–1.36	0.64	0.58	1.69 × 10⁻¹⁴	1.29	1.21–1.38
rs5912849	78524009	A	0.66	0.60	8.45 × 10⁻⁶	1.29	1.15–1.44	0.65	0.62	1.56 × 10⁻⁴	1.16	1.07–1.25	0.65	0.61	3.08 × 10⁻⁸	1.20	1.13–1.29
rs6619800	78526120	A	0.61	0.53	1.60 × 10⁻⁷	1.35	1.21–1.51	0.59	0.54	6.62 × 10⁻⁷	1.21	1.12–1.30	0.59	0.53	6.94 × 10⁻¹²	1.25	1.17–1.34
rs5959298	78557332	A	0.71	0.65	6.44 × 10⁻⁵	1.27	1.13–1.43	0.70	0.66	1.12 × 10⁻⁵	1.20	1.10–1.29	0.70	0.66	1.35 × 10⁻⁸	1.22	1.14–1.31
rs6619915	78587587	A	0.50	0.44	2.62 × 10⁻⁵	1.27	1.14–1.42	0.50	0.45	7.22 × 10⁻⁷	1.21	1.12–1.30	0.50	0.45	3.91 × 10⁻¹¹	1.24	1.17–1.33
rs1736645	78597195	C	0.60	0.54	4.44 × 10⁻⁶	1.30	1.16–1.46	0.61	0.55	6.93 × 10⁻⁹	1.25	1.16–1.35	0.61	0.55	5.00 × 10⁻¹³	1.27	1.19–1.36
rs75810848	78609329	C	0.49	0.43	1.47 × 10⁻⁵	1.29	1.15–1.44	0.49	0.44	1.87 × 10⁻⁶	1.20	1.11–1.29	0.49	0.44	4.76 × 10⁻¹⁰	1.23	1.15–1.31

Table 2.

Open in new tab

Association Results of Tag SNPs on Xq21.1 in the 2-Stage Population

			GWAS (1442 vs 1468)					Replication (2874 vs 2906)					Combined (4316 vs 4374)
SNP	Chr. Position	Risk Allele	Case (RAF)	Control (RAF)	P	OR	95% CI	Case (RAF)	Control (RAF)	P	OR	95% CI	Case (RAF)	Control (RAF)	P	OR	95% CI
rs5912203	78258106	T	0.63	0.56	3.47 × 10⁻⁷	1.34	1.20–1.50	0.63	0.57	1.31 × 10⁻¹⁰	1.28	1.19–1.39	0.63	0.57	8.50 × 10⁻¹⁵	1.30	1.21–1.39
rs12687858	78416403	C	0.72	0.67	1.87 × 10⁻⁵	1.30	1.15–1.46	0.72	0.67	7.27 × 10⁻⁸	1.25	1.15–1.35	0.72	0.67	8.21 × 10⁻¹¹	1.26	1.18–1.35
rs3827440	78426988	T	0.63	0.56	1.64 × 10⁻⁷	1.35	1.21–1.51	0.63	0.57	4.41 × 10⁻¹¹	1.29	1.20–1.39	0.63	0.57	2.45 × 10⁻¹⁵	1.30	1.22–1.39
rs5912838	78497118	A	0.64	0.56	4.15 × 10⁻⁸	1.37	1.22–1.53	0.64	0.58	1.44 × 10⁻⁹	1.26	1.17–1.36	0.64	0.58	1.69 × 10⁻¹⁴	1.29	1.21–1.38
rs5912849	78524009	A	0.66	0.60	8.45 × 10⁻⁶	1.29	1.15–1.44	0.65	0.62	1.56 × 10⁻⁴	1.16	1.07–1.25	0.65	0.61	3.08 × 10⁻⁸	1.20	1.13–1.29
rs6619800	78526120	A	0.61	0.53	1.60 × 10⁻⁷	1.35	1.21–1.51	0.59	0.54	6.62 × 10⁻⁷	1.21	1.12–1.30	0.59	0.53	6.94 × 10⁻¹²	1.25	1.17–1.34
rs5959298	78557332	A	0.71	0.65	6.44 × 10⁻⁵	1.27	1.13–1.43	0.70	0.66	1.12 × 10⁻⁵	1.20	1.10–1.29	0.70	0.66	1.35 × 10⁻⁸	1.22	1.14–1.31
rs6619915	78587587	A	0.50	0.44	2.62 × 10⁻⁵	1.27	1.14–1.42	0.50	0.45	7.22 × 10⁻⁷	1.21	1.12–1.30	0.50	0.45	3.91 × 10⁻¹¹	1.24	1.17–1.33
rs1736645	78597195	C	0.60	0.54	4.44 × 10⁻⁶	1.30	1.16–1.46	0.61	0.55	6.93 × 10⁻⁹	1.25	1.16–1.35	0.61	0.55	5.00 × 10⁻¹³	1.27	1.19–1.36
rs75810848	78609329	C	0.49	0.43	1.47 × 10⁻⁵	1.29	1.15–1.44	0.49	0.44	1.87 × 10⁻⁶	1.20	1.11–1.29	0.49	0.44	4.76 × 10⁻¹⁰	1.23	1.15–1.31

			GWAS (1442 vs 1468)					Replication (2874 vs 2906)					Combined (4316 vs 4374)
SNP	Chr. Position	Risk Allele	Case (RAF)	Control (RAF)	P	OR	95% CI	Case (RAF)	Control (RAF)	P	OR	95% CI	Case (RAF)	Control (RAF)	P	OR	95% CI
rs5912203	78258106	T	0.63	0.56	3.47 × 10⁻⁷	1.34	1.20–1.50	0.63	0.57	1.31 × 10⁻¹⁰	1.28	1.19–1.39	0.63	0.57	8.50 × 10⁻¹⁵	1.30	1.21–1.39
rs12687858	78416403	C	0.72	0.67	1.87 × 10⁻⁵	1.30	1.15–1.46	0.72	0.67	7.27 × 10⁻⁸	1.25	1.15–1.35	0.72	0.67	8.21 × 10⁻¹¹	1.26	1.18–1.35
rs3827440	78426988	T	0.63	0.56	1.64 × 10⁻⁷	1.35	1.21–1.51	0.63	0.57	4.41 × 10⁻¹¹	1.29	1.20–1.39	0.63	0.57	2.45 × 10⁻¹⁵	1.30	1.22–1.39
rs5912838	78497118	A	0.64	0.56	4.15 × 10⁻⁸	1.37	1.22–1.53	0.64	0.58	1.44 × 10⁻⁹	1.26	1.17–1.36	0.64	0.58	1.69 × 10⁻¹⁴	1.29	1.21–1.38
rs5912849	78524009	A	0.66	0.60	8.45 × 10⁻⁶	1.29	1.15–1.44	0.65	0.62	1.56 × 10⁻⁴	1.16	1.07–1.25	0.65	0.61	3.08 × 10⁻⁸	1.20	1.13–1.29
rs6619800	78526120	A	0.61	0.53	1.60 × 10⁻⁷	1.35	1.21–1.51	0.59	0.54	6.62 × 10⁻⁷	1.21	1.12–1.30	0.59	0.53	6.94 × 10⁻¹²	1.25	1.17–1.34
rs5959298	78557332	A	0.71	0.65	6.44 × 10⁻⁵	1.27	1.13–1.43	0.70	0.66	1.12 × 10⁻⁵	1.20	1.10–1.29	0.70	0.66	1.35 × 10⁻⁸	1.22	1.14–1.31
rs6619915	78587587	A	0.50	0.44	2.62 × 10⁻⁵	1.27	1.14–1.42	0.50	0.45	7.22 × 10⁻⁷	1.21	1.12–1.30	0.50	0.45	3.91 × 10⁻¹¹	1.24	1.17–1.33
rs1736645	78597195	C	0.60	0.54	4.44 × 10⁻⁶	1.30	1.16–1.46	0.61	0.55	6.93 × 10⁻⁹	1.25	1.16–1.35	0.61	0.55	5.00 × 10⁻¹³	1.27	1.19–1.36
rs75810848	78609329	C	0.49	0.43	1.47 × 10⁻⁵	1.29	1.15–1.44	0.49	0.44	1.87 × 10⁻⁶	1.20	1.11–1.29	0.49	0.44	4.76 × 10⁻¹⁰	1.23	1.15–1.31

Abbreviations: Chr., chromosome; RAF, risk allele frequency. Bold type indicates 2 independent GD-associated SNPs.

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