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Table 4 Summary of lipidomics-derived pathways

From: SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects

Lipid class

Pathway

Lipid

Gene

Direction

p value/fold change

Sterol

Steroid biosynthesis

24,25-Dihydrolanosterol

 

Decreased

0.0056

Lanosterol

 

Decreased

 < 0.0001

14-Demethyl-lanosterol

 

Decreased

0.0004

Zymosterol

 

Decreased

0.0001

Zymostenol

 

Decreased

0.0106

Primary bile acid biosynthesis

25-Hydroxycholesterol

 

Increased

 < 0.0001

7alpha-Hydroxycholesterol

 

Decreased

0.0025

7alpha-hydroxy-4-cholesten-3-one

 

Decreased

0.0013

Free fatty acid

Biosynthesis of unsaturated fatty acids

20:5 (Eicosapentaenoic acid)

 

Increased

 < 0.0001

22:5 (Docosapentaenoic acid)

 

Increased

 < 0.0001

22:6 (Docosahexaenoic acid)

 

Increased

0.0001

20:3 N9 (Eicosatrienoic acid)

 

Decreased

0.0037

20:4 (Arachidonic acid)

 

Increased

 < 0.0001

22:4 (Adrenic acid)

 

Increased

 < 0.0001

20:1 (Icosenoic acid)

 

Decreased

0.0199

Linoleic acid metabolism

20:4 (Arachidonic acid)

 

Increased

 < 0.0001

20:3 N9 (Eicosatrienoic acid)

 

Decreased

0.0037

 

PLA2G4A

Decreased

– 8.14

Phospholipid

Glycerophospholipid metabolism

Phosphatidylglycerol

 

Increased

0.0189

Phosphatidylserine

 

Increased

0.0072

 

PLA2G4A

Decreased

– 8.14

 

GPAT4

Decreased

–10.64

Acylcarnitine

Fatty acid degradation

CAR 16:0

(L-palmitoylcarnitine)

 

Increased

0.0004

  1. p values are shown for lipids and fold changes are shown for genes