Table 2 Structural variation in sporadic ALS.

From: Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Gene

p-value

SV-type

Cases (freq)

Controls (freq)

Odds ratio (CI 95%)

C9orf72

2 × 10−16

Expansion

244 (0.06)

4 (0.002)

28.1 (10.45, 75.61)

VCP

2 × 10−5

Inversion

2430 (0.56)

669 (0.36)

2.33 (2.09, 2.61)

ERBB4

3 × 10−5

Insertion

2001 (0.46)

476 (0.25)

2.55 (2.26, 2.88)

  1. There were three genes in which structural variation was associated with ALS: C9orf72, VCP, and ERBB4. Odds ratio is calculated from the exponential of the beta from the regression model including principal components of ancestry and other confounders. SV structural variation, freq frequency.
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