Table 1 Burden analysis of rare SYNJ1 variants

From: Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease?

  

Burden analysis in full cohort (n = 8165 cases and n = 70,363 controls)

Burden analysis in early onset (< 50) cases only (n = 818 cases and n = 7427 controls)

Cohort

Variants included in analysis

P-value

Pfdr

N of varaints

P-value

Pfdr

N of vairants

AMP_PD

All rare

1.42E-05

2.98E-04

523

3.48E-05

7.31E-04

471

AMP_PD

Nonsynonymous

0.241

0.633

26

0.273

0.956

23

AMP_PD

CADD

0.248

0.579

9

0.298

0.894

9

Columbia

All rare

0.030

0.126

66

0.574

0.927

40

Columbia

Nonsynonymous

0.012

0.084

25

0.044

0.231

15

Columbia

CADD

0.641

0.841

15

0.375

0.984

7

McGill

All rare

0.009

0.095

62

0.027

0.189

31

McGill

Nonsynonymous

0.693

0.809

24

0.573

1.000

13

McGill

CADD

0.665

0.821

19

0.592

0.888

10

Pavlov and Human brain

All rare

0.448

0.941

75

0.807

0.847

38

Pavlov and Human brain

Nonsynonymous

0.605

0.847

35

0.631

0.779

17

Pavlov and Human brain

CADD

0.578

0.867

37

0.74

0.863

17

Sheba

All rare

0.720

0.796

23

0.608

0.851

16

Sheba

Nonsynonymous

0.733

0.770

8

0.464

0.974

5

Sheba

CADD

0.463

0.884

6

0.405

0.945

6

UKBB

All rare

0.530

0.856

440

0.827

0.825

180

UKBB

Nonsynonymous

0.779

0.779

163

0.464

0.809

24

UKBB

CADD

0.497

0.870

67

0.673

0.831

78

Meta-analysis

All rare

0.025

0.131

 

2.80E-03

0.029

 

Meta-analysis

Nonsynonymous

0.090

0.315

 

0.217

0.951

 

Meta-analysis

CADD

0.120

0.361

 

0.485

0.953

 
  1. UKBB UK biobank, AMP-PD Accelerating Medicines Partnership – Parkinson Disease, Combined Annotation Dependent Depletion (CADD) score > 20, Pfdr- p-value with false discovery rate adjustment.