sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to sphingomyelin (d18:2/23:1)*

Numerator 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

Denominator Metabolite

Structure of sphingomyelin (d18:2/23:1)*
Metabolite Accession: GCST90200126
Name: sphingomyelin (d18:2/23:1)*
Hmdb Id: HMDB0240668
Super Pathway: NA
Sub Pathway: NA
Inchikey: PUTLJICFLAOKRD

Associated Genomic Regions

Region: rs174546

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.227
Position:
61569830
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
18.406
Reference Allele:
C
-log10(P):
-172.530
MAF:
0.339
Beta (Num):
0.186
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.041
SE (Den):
0.014
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

Region: rs1466448

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.157
Position:
8289519
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
-10.595
Reference Allele:
A
-log10(P):
-58.719
MAF:
0.192
Beta (Num):
-0.099
Novel Locus:
Yes ✔️
SE (Num):
0.018
Beta (Den):
0.058
SE (Den):
0.017
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio reflects altered FADS1/FADS2 and CERS4 activity, affecting the fatty acid composition (e.g., C20:2 vs. C23:1) of sphingomyelins.1[1], 7[2], 8[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Variations in FADS and CERS genes alter sphingolipid composition.9[1], 8[2], 10[3] This dysregulation of lipid metabolism is linked to phenotypes like hypercholesterolemia, cholelithiasis, and Type 2 diabetes by affecting inflammatory pathways and metabolic homeostasis.11[4], 12[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