Table 1 Independent RBD risk loci nominated by GWAS meta-analysis

From: Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects

Meta-analysis

PD+pRBD

iRBD

Position (hg19)

SNP

Closest gene

Eff allele

Ref allele

EAF

OR

95% CI

p

Het I2 (%)

OR

95% CI

p

OR

95% CI

p

4:90757272

rs3756059

SNCA

A

G

0.50

1.26

1.19–1.33

3.02E-16

94.4

1.16

1.08–1.24

2.67E-05

1.49

1.36–1.64

2.42E-16

1:155205378

rs12752133

GBA

T

C

0.01

2.09

1.73–2.54

4.87E-14

0

2.06

1.64–2.59

1.65E-08

2.18

1.53–3.11

1.78E-05

1:155205634

rs76763715

GBA

C

T

0.004

2.84

2.06–3.92

1.68E-10

0

2.74

1.9–3.94

1.35E-06

3.25

1.65–6.41

6.79E-04

4:951947

rs34311866

TMEM175

C

T

0.19

1.22

1.14–1.31

4.41E-09

0

1.2

1.1–1.3

2.45E-05

1.28

1.14–1.44

3.99E-05

10:121536327

rs117896735

INPP5F/BAG3

A

G

0.02

1.8

1.48–2.19

4.70E-09

0

1.88

1.5–2.36

4.04E-07

1.57

1.05–2.34

2.68E-02

4:77132634

rs7697073

SCARB2

T

C

0.34

1.18

1.11–1.25

2.21E-08

0

1.16

1.08–1.25

2.71E-05

1.2

1.09–1.33

2.03E-04

  1. We identified 6 independent variants significantly associated with RBD through genome-wide association study (GWAS), performed as repeated logistic regression across the genome, adjusted for age, sex, and principal components. Loci are considered significant if their two-sided p-value is less than the standard GWAS multiple testing corrected threshold (p < 5E-08). The high heterogeneity found in the SNCA locus could be attributed to the stronger effect size in iRBD (OR = 1.49) compared to PD+pRBD (OR = 1.16). The two GBA associations, representing the p.Glu326Lys and p.Asn370Ser variants, are not in LD, as they are known from Gaucher’s disease studies to reside on different alleles.
  2. PD Parkinson’s disease, pRBD probable REM sleep behavior disorder, iRBD idiopathic REM sleep behavior disorder, SNP single-nucleotide polymorphism, Eff effect, Ref reference, EAF effect allele frequency, OR odds ratio, CI confidence interval, Het heterogeneity.
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