Table 3 Significant signals with single variant burden analysis (SCARB2)

From: TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations

Ancestry

Variant

A1

A2

MAF_ cases

MAF_controls

N_cases

N_controls

effect

SE

Direction

P-value

FDR corrected P-value

MAF

(GnomAD)

AAC

p.Val149Met

T

C

1.36e-03

1.32e-03

306

712

11.52

4.43

+

9.29e-03*

0.19

2.15e-03

(global)

AJ

p. Met159Val

C

T

5.06e-03

0.011

1209

219

−5.25

2.27

-

0.021*

0.36

0.013

EAS

p. Asp194Asn

T

C

6.32e-04

1.16e-03

2260

1505

−4.31

1.78

-

0.015*

0.27

2.10e-03

 

p. Ile144Leu

A

T

4.89e-03

3.10e-03

2241

1492

2.05

0.91

+

0.024*

0.34

8.30e-03

  1. P values were adjusted for multiple testing across ten ancestries, correcting for all single-variant tests within the SCARB2 locus using the Benjamini–Hochberg method to control the false discovery rate. Global refers to the worldwide MAF reported in gnomAD, as ancestry specific MAF for the African American cohort was not available.
  2. AAC African American, AJ Ashkenazi Jewish, EAS East Asian, p. Val149Met(rs147159813), p. Met159Val(rs143655258), p. Asp194Asn(rs773017713), p. Ile144Leu(rs117600063), A1 alternative allele, A2 reference allele, MAF minor allele frequency, SE stanadard eror, + means risk, - means protective.
  3. * p value < 0.05.