sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to 1-myristoyl-2-arachidonoyl-gpc (14:0/20:4)*

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-myristoyl-2-arachidonoyl-gpc (14:0/20:4)*
Metabolite Accession: GCST90200078
Name: 1-myristoyl-2-arachidonoyl-gpc (14:0/20:4)*
Hmdb Id: HMDB0007883
Super Pathway: NA
Sub Pathway: NA
Inchikey: SRQSAJRUMDQMMS

Associated Genomic Regions

Region: rs174547

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):
0.528
Position:
61570783
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
23.851
Reference Allele:
T
-log10(P):
-287.836
MAF:
0.339
Beta (Num):
0.186
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.342
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.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Arachidonic acid metabolism.9[1], 10[2]

Ratio Explanation:

The ratio reflects the balance between sphingomyelin and phosphatidylcholine pools, influenced by FADS1/FADS2 activity which modulates the availability of arachidonic acid (20:4).1[1], 11[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/FADS2 variants alter polyunsaturated fatty acid metabolism, including arachidonic acid (a key inflammatory mediator), impacting HDL levels and inflammatory responses, which contributes to the risk of cholelithiasis, type 2 diabetes, and inflammatory bowel disease.12[1], 13[2], 14[3], 15[4], 16[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