sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to sphingomyelin (d17:2/16:0, d18:2/15:0)*

Numerator Metabolite

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200125
Name: sphingomyelin (d17:2/16:0, d18:2/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174560

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.158
Position:
61581764
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
11.404
Reference Allele:
T
-log10(P):
-67.696
MAF:
0.308
Beta (Num):
0.072
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.086
SE (Den):
0.015
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):
-0.156
Position:
116648917
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
-8.164
Reference Allele:
C
-log10(P):
-35.664
MAF:
0.131
Beta (Num):
-0.102
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
0.053
SE (Den):
0.020
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism4[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism5[1]

Ratio Explanation:

This ratio reflects the activity of FADS enzymes, comparing sphingomyelins with polyunsaturated fatty acids to those with saturated or odd-chain fatty acids.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS1/FADS2 activity, indicated by the sphingomyelin ratio, impacts polyunsaturated fatty acid levels.1[1] This dysregulation of lipid metabolism is linked to an increased risk for cardiovascular diseases like coronary atherosclerosis and lipoprotein disorders, and also for cholelithiasis.6[2], 2[3], 7[4], 8[5]

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