hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)
Metabolite Accession: GCST90200041
Name: 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)
Hmdb Id: HMDB0007970
Super Pathway: NA
Sub Pathway: NA
Inchikey: PZNPLUBHRSSFHT

Associated Genomic Regions

Region: rs174560

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.505
Position:
61581764
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
25.866
Reference Allele:
T
-log10(P):
-338.002
MAF:
0.308
Beta (Num):
0.273
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.232
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs964184

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.263
Position:
116648917
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
-9.699
Reference Allele:
C
-log10(P):
-49.544
MAF:
0.131
Beta (Num):
-0.110
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
0.153
SE (Den):
0.023
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

This ratio may reflect the balance between sphingolipid and glycerophospholipid synthesis, potentially influenced by FADS activity on fatty acid precursors for both pathways.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters fatty acid desaturation, influencing the composition of complex lipids like sphingomyelins and glycerophosphocholines.3[1], 11[2], 12[3] This altered lipid profile is associated with an increased risk for cardiovascular diseases, including angina, myocardial infarction, and atherosclerosis, by affecting lipid metabolism and inflammation.1[4], 2[5], 4[6], 13[7], 14[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