sphingomyelin (d18:2/14:0, d18:1/14:1)* to sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

Associated Genomic Regions

Region: rs174535

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.165
Position:
61551356
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
-12.256
Reference Allele:
T
-log10(P):
-77.843
MAF:
0.345
Beta (Num):
-0.089
Novel Locus:
No
SE (Num):
0.013
Beta (Den):
0.077
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

Region: rs680379

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Clumped rQTL variant

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SNP Summary

Chr:
20
Beta (Ratio):
-0.132
Position:
12969400
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
-10.044
Reference Allele:
G
-log10(P):
-52.985
MAF:
0.385
Beta (Num):
-0.013
Novel Locus:
No
SE (Num):
0.013
Beta (Den):
0.119
SE (Den):
0.014
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism

Denominator Metabolite Explanation:

Sphingolipid metabolism

Ratio Explanation:

This ratio likely reflects FADS1 activity, comparing sphingomyelins with shorter, more saturated fatty acid chains to those with longer, more unsaturated fatty acid chains.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic regulation of FADS1 alters fatty acid profiles, which is reflected in the sphingomyelin ratio.3[1], 4[2] This dysregulation of lipid metabolism is a known risk factor for the associated phenotypes, including hypercholesterolemia5[3], 6[4], type 2 diabetes7[5], 8[6], 9[7], and asthma.10[8], 11[9]

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