sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to 1-(1-enyl-palmitoyl)-2-palmitoleoyl-gpc (p-16:0/16:1)*

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 1-(1-enyl-palmitoyl)-2-palmitoleoyl-gpc (p-16:0/16:1)*
Metabolite Accession: GCST90200070
Name: 1-(1-enyl-palmitoyl)-2-palmitoleoyl-gpc (p-16:0/16:1)*
Hmdb Id: HMDB0011207
Super Pathway: NA
Sub Pathway: NA
Inchikey: FZMYLOBGNYZPQO

Associated Genomic Regions

Region: rs102275

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):
0.289
Position:
61557803
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
14.635
Reference Allele:
T
-log10(P):
-110.000
MAF:
0.346
Beta (Num):
0.179
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.110
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis, De novo synthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Plasmalogen (ether lipid) biosynthesis.7[1], 8[2]

Ratio Explanation:

FADS1 produces polyunsaturated fatty acids that are incorporated into both sphingomyelins and plasmalogens, thus the ratio may reflect FADS1 activity and lipid membrane composition.1[1], 9[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered FADS1 activity impacts the synthesis of polyunsaturated fatty acids, affecting the balance of inflammatory and metabolic lipids.9[1], 10[2] This is linked to phenotypes like hypercholesterolemia, type 2 diabetes, and inflammatory diseases such as phlebitis, IBD, and asthma.2[3], 11[4], 12[5], 13[6]

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