Table 2 Statistically significant cellular pathways identified in pathway analysis of pathogenic variants.

From: Modifier variants in metabolic pathways are associated with an increased penetrance of Leber’s Hereditary Optic Neuropathy

Gene name

Category

Description of Pathway

Adjusted p value

Affected Cohort

DLAT/MDH2

Metabolism

Citrate cycle (TCA cycle)

0.0026

Pyruvate metabolism

0.0055

Carbon metabolism

0.0271

ACADM/ACADSB

Metabolism

Fatty acid degradation

0.0051

Valine, leucine and isoleucine degradation

0.0055

Fatty acid metabolism

0.0072

Unaffected Cohort

FH/SDHD

Metabolism

Citrate cycle (TCA cycle)

0.0143

CPT2/SDHD/UQCRFS1

Human Diseases

Diabetic cardiomyopathy

0.0365

  1. The presented pathway p values were adjusted using Benjamini-Hochberg correction within the ClusterProfiler package to account for multiple pathway testing.
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