palmitoyl sphingomyelin (d18:1/16:0) to 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*

Numerator Metabolite

Structure of palmitoyl sphingomyelin (d18:1/16:0)
Metabolite Accession: GCST90199876
Name: palmitoyl sphingomyelin (d18:1/16:0)
Hmdb Id: HMDB0010169
Super Pathway: NA
Sub Pathway: NA
Inchikey: RWKUXQNLWDTSLO

Denominator Metabolite

Structure of 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*
Metabolite Accession: GCST90200083
Name: 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*
Hmdb Id: HMDB0011206
Super Pathway: NA
Sub Pathway: NA
Inchikey: PEWXKAOBUSBJLD

Associated Genomic Regions

Region: rs174547

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.191
Position:
61570783
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
13.105
Reference Allele:
T
-log10(P):
-88.679
MAF:
0.339
Beta (Num):
0.026
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.165
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

Region: rs72719193

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
0.370
Position:
67969108
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
27.197
Reference Allele:
G
-log10(P):
-373.364
MAF:
0.478
Beta (Num):
0.015
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.355
SE (Den):
0.015
No CNV overlap
rQTL cluster:
46
Reaction Distance:
NA
Closest Genes:
TMEM229B PLEKHH1 PIGH PLEK2 EIF2S1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Ether lipid (plasmalogen) metabolism.7[1]

Ratio Explanation:

The ratio reflects the balance between two major membrane lipid synthesis pathways, potentially modulated by FADS activity on shared polyunsaturated fatty acid precursors.8[1], 9[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters fatty acid desaturation, influencing the balance of sphingolipids and plasmalogens.4[1], 8[2] This dysregulation is linked to an increased risk for disorders of lipoprotein metabolism and age-related macular degeneration.10[3], 11[4], 12[5], 13[6], 14[7], 15[8]

Phenotype Driver:

Gene-centric:FADS1/FADS2

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data