sphingomyelin (d18:2/14:0, d18:1/14:1)* to 1-stearoyl-2-oleoyl-gpi (18:0/18:1)*

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: GCST90200077
Name: 1-stearoyl-2-oleoyl-gpi (18:0/18:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.217
Position:
61557803
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
-12.475
Reference Allele:
T
-log10(P):
-80.575
MAF:
0.347
Beta (Num):
-0.090
Novel Locus:
No
SE (Num):
0.013
Beta (Den):
0.127
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 metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

GPI-anchor biosynthesis.7[1], 8[2], 9[3]

Ratio Explanation:

FADS1/FADS2 activity alters fatty acid precursor pools, influencing the specific acyl chains incorporated into both sphingomyelins and GPI anchors, thus affecting their relative abundance.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter polyunsaturated fatty acid metabolism, impacting inflammatory and lipid pathways.10[1], 11[2], 12[3] This dysregulation is linked to phenotypes like inflammatory bowel disease and hypercholesterolemia.13[4], 14[5], 15[6], 16[7], 17[8]

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