sphingomyelin (d18:2/16:0, d18:1/16:1)* to sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*

Numerator Metabolite

Metabolite Accession: GCST90199947
Name: sphingomyelin (d18:2/16:0, d18:1/16:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90199995
Name: sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs102274

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.235
Position:
61557826
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
-14.398
Reference Allele:
T
-log10(P):
-106.543
MAF:
0.340
Beta (Num):
-0.051
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.184
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

Region: rs364585

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Clumped rQTL variant

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SNP Summary

Chr:
20
Beta (Ratio):
-0.155
Position:
12962718
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
-9.707
Reference Allele:
G
-log10(P):
-49.618
MAF:
0.384
Beta (Num):
-0.074
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.081
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism, fatty acid biosynthesis.4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism, fatty acid desaturation.4[1], 5[2]

Ratio Explanation:

This ratio likely reflects FADS1 activity, contrasting sphingomyelins with precursor fatty acids against those with longer-chain fatty acids produced by FADS-mediated desaturation/elongation.6[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters polyunsaturated fatty acid (PUFA) synthesis, reflected by the ratio.6[1], 8[2] This altered lipid and inflammatory mediator profile likely drives the associated risks for dyslipidemia, cholelithiasis, and asthma, phenotypes strongly linked to FADS1 function.9[3], 10[4], 11[5]

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