Table 1 Association results for the 2 POU5F1 variants in stage I, stage II and combined sample set.

From: Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese

 

SNP

Genotype

Cases n (%)

Controls n (%)

MAFa

Crude OR (95%CI)

Adjusted ORb (95%CI)

Adjusted Pb

Cases

Controls

Stage I (1309 cases vs. 1491 controls)

 rs3130933

GG

1260 (96.48)

1461 (98.32)

0.018

0.008

1.00

1.00

 
 

AG

45 (3.45)

25 (1.68)

  

2.09 (1.27–3.42)

2.13 (1.29–3.50)

3.02 × 10 −3

 

AA

1 (0.07)

0 (0.00)

  

–

–

–

 

AG+AA

46 (3.52)

25 (1.68)

  

2.13 (1.30–3.49)

2.18 (1.33–3.59)

2.08 × 10 −3

 

Additive

    

2.14 (1.32–3.48)

2.19 (1.34–3.58)

1.67 × 10 −3

 rs17190811

AA

1082 (82.91)

1309 (88.44)

0.087

0.058

1.00

1.00

 
 

AT

220 (16.86)

170 (11.49)

  

1.57 (1.26–1.94)

1.58 (1.27–1.96)

4.06 × 10 −5

 

TT

3 (0.23)

1 (0.07)

  

3.63 (0.38–34.94)

2.58 (0.27–24.83)

4.13 × 10−1

 

AT+TT

223 (17.09)

171 (11.56)

  

1.58 (1.27–1.96)

1.59 (1.28–1.97)

3.11 × 10 −5

 

Additive

    

1.58 (1.28–1.95)

1.58 (1.28–1.96)

2.82 × 10 −5

Stage II (1411 cases vs. 1840 controls)

 rs3130933

GG

1345 (96.00)

1805 (98.15)

0.020

0.009

1.00

1.00

 
 

AG

55 (3.93)

34 (1.85)

  

2.17 (1.41–3.35)

2.07 (1.34–3.21)

1.07 × 10 −3

 

AA

1 (0.07)

0 (0.00)

  

–

–

–

 

AG+AA

56 (4.00)

34 (1.85)

  

2.21 (1.44–3.40)

2.12 (1.37–3.28)

7.25 × 10 −4

 

Additive

    

2.22 (1.45–3.40)

2.13 (1.39–3.28)

5.68 × 10 −4

 rs17190811

AA

1230 (87.86)

1617 (88.60)

0.061

0.058

1.00

1.00

 
 

AT

168 (12.00)

205 (11.23)

  

1.08 (0.87–1.34)

1.08 (0.87–1.35)

4.76 × 10−1

 

TT

2 (0.14)

3 (0.17)

  

0.88 (0.15–5.25)

0.88 (0.15–5.37)

8.92 × 10−1

 

AT+TT

170 (12.14)

208 (11.40)

  

1.07 (0.87–1.33)

1.08 (0.87–1.34)

4.88 × 10−1

 

Additive

    

1.07 (0.87–1.32)

1.08 (0.87–1.33)

5.07 × 10−1

Combined sample set (2720 cases vs. 3331 controls)

 rs3130933

GG

2605 (96.23)

3266 (98.23)

0.019

0.009

1.00

1.00

 
 

AG

100 (3.70)

59 (1.77)

  

2.13 (1.53–2.94)

2.09 (1.51–2.90)

1.10 × 10 −5

 

AA

2 (0.07)

0 (0.00)

  

–

–

–

 

AG+AA

102 (3.77)

59 (1.77)

  

2.17 (1.57–3.00)

2.14 (1.54–2.97)

5.27 × 10 −6

 

Additive

    

2.17 (1.58–3.00)

2.15 (1.56–2.97)

3.37 × 10 −6

  1. aMinor allele frequency (MAF).
  2. bAdjusted for sex. Significant values (P < 0.05) are in bold.
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