sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to 1-stearoyl-2-docosahexaenoyl-gpc (18:0/22:6)

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 1-stearoyl-2-docosahexaenoyl-gpc (18:0/22:6)
Metabolite Accession: GCST90200046
Name: 1-stearoyl-2-docosahexaenoyl-gpc (18:0/22:6)
Hmdb Id: HMDB0008057
Super Pathway: NA
Sub Pathway: NA
Inchikey: FAUYAENFVCNTAL

Associated Genomic Regions

Region: rs174546

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:
11
Beta (Ratio):
0.434
Position:
61569830
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
20.225
Reference Allele:
C
-log10(P):
-207.760
MAF:
0.339
Beta (Num):
0.186
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.247
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Fatty acid biosynthesis.4[1], 5[2]

Ratio Explanation:

This ratio reflects FADS2 activity, which influences the balance of long-chain fatty acids incorporated into sphingomyelins versus DHA-containing phosphatidylcholines.6[1], 1[2], 7[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1/FADS2 genetic variation alters PUFA synthesis, reflected in the ratio, which impacts cell membrane composition and inflammatory precursors.8[1], 9[2], 10[3] This contributes to phenotypes like dyslipidemia, cholelithiasis, and type 2 diabetes, which are strongly associated with altered lipid metabolism and inflammation.11[4], 12[5], 13[6]

Phenotype Driver:

Gene-centric: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