Table 2 Variants pathogenic for Gaucher disease in MSA cases and controls

From: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-

Variant

Genotype

Present study

Mitsui et al. [10]

MSA cases (AC = 998)

Control samples (AC = 17,554)

 

MSA cases(AC = 1148)

Controls (AC = 1800)

 
  

Individuals (AF)

Individuals (AF)

p-valuea

Individuals (AF)

Individuals (AF)

p-valueb

p.S310G

Heterozygous

1 (0.00100)

3 (0.000171)

0.198

0

0

-

c.del1447_1466insTG

Heterozygous

1 (0.00100)

0

0.0538

0

0

-

p.L483P

Heterozygous

3 (0.00301)

20 (0.00114)

0.124

4 (0.0035)

2 (0.0011)

0.216

  1. AC allele count, AF allele frequency
  2. aFisher’s exact test was conducted to compare the allele frequencies in the MSA of this study with those in control samples with mapping to GRCh37
  3. bThe comparison of allele frequencies reported in our previous study was cited from Mitsui et al. [10]
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