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Table 1 Performance of genetic and combined (clinical and genetic) risk models for AF using rare and common variants.

From: Incremental value of rare genetic variants for the prediction of multifactorial diseases

OR

Frequency

Variants (n)

AUC

IDI

NRI(>0.01)

 

NRI categorical

 
   

Genetic

Combined

Δ

  

Total

Cases

Controls

Rare variants

        

2

0.0001

1

0.50

0.76

0

0

0

0

0

0

 

0.001

1

0.50

0.76

0

0

0

0

0

0

 

0.005

1

0.50

0.76

0

0

-0.01

0

0

0

 

0.01

1

0.51

0.76

0

0

-0.03

0

0

0

5

0.0001

1

0.50

0.76

0

0

0

0

0

0

 

0.001

1

0.50

0.76

0

0

-0.01

0

0

0

 

0.005

1

0.51

0.76

0

0

-0.05

0.01

0.01

0

 

0.01

1

0.52

0.77

0.01

0.01

-0.10

0.02

-0.01

0.03

10

0.0001

1

0.50

0.76

0

0

0

0

0

0

 

0.001

1

0.50

0.76

0

0

-0.03

0.00

0

0.01

 

0.005

1

0.52

0.77

0.01

0.02

-0.11

0.02

-0.01

0.03

 

0.01

1

0.54

0.78

0.02

0.03

-0.13

0.04

-0.02

0.06

Common variants

        

1.14-1.45 a

0.03-0.84*

10

0.59

0.77

0.01

0.01

0.20

0.04

0.01

0.04

  1. aUsing parameters from the top 10 (that is, in terms of P value) uncorrelated SNPs in the CHARGE AF meta-analysis; in the table are listed the range of OR and allele frequency [22]. Variables included in the clinical risk score were: age, weight, height, systolic blood pressure (SBP), diastolic blood pressure (DBP), diabetes, medication for hypertension, history of congestive heart failure, history of myocardial infarction, smoking status, and race. Disease risk is 4% and population size is 200,000 for rare variants scenarios and 20,000 for common variants scenarios. Results are median values from 200 simulations.
  2. AUC, area under the receiver operating characteristic curve; ΔAUC, change in AUC between the model with and without genetic variants; IDI, integrated discrimination improvement; NRI, net reclassification improvement (cutoffs 2.5% and 5%); OR, odds ratio.