sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

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: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
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):
0.169
Position:
61581764
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
13.400
Reference Allele:
T
-log10(P):
-92.608
MAF:
0.308
Beta (Num):
0.072
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.097
SE (Den):
0.014
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs4804290

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.144
Position:
8300197
SE (Ratio):
0.016
Effect Allele:
G
Z-score (Ratio):
8.823
Reference Allele:
A
-log10(P):
-41.343
MAF:
0.158
Beta (Num):
0.058
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
-0.086
SE (Den):
0.018
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 CD320 NDUFA7 NDUFA7 FBN3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Ratio Explanation:

The ratio reflects FADS1 activity, comparing sphingomyelins with more unsaturated fatty acids (numerator) to those with less unsaturated or saturated fatty acids (denominator).1[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS1 activity, supported by eQTL colocalization, changes the fatty acid composition of sphingomyelins.2[1], 7[2] This dysregulation of lipid metabolism is linked to inflammatory and metabolic phenotypes like asthma, dermatitis, and hypercholesterolaemia, which show colocalization.8[3], 3[4]

Phenotype Driver:

Gene-centric:FADS1

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