sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)* to 1,2-dilinoleoyl-gpe (18:2/18:2)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

Denominator Metabolite

Structure of 1,2-dilinoleoyl-gpe (18:2/18:2)*
Metabolite Accession: GCST90200068
Name: 1,2-dilinoleoyl-gpe (18:2/18:2)*
Hmdb Id: HMDB0009093
Super Pathway: NA
Sub Pathway: NA
Inchikey: SSCDRSKJTAQNNB

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):
-0.333
Position:
61557803
SE (Ratio):
0.023
Effect Allele:
C
Z-score (Ratio):
-14.420
Reference Allele:
T
-log10(P):
-106.861
MAF:
0.346
Beta (Num):
-0.106
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.227
SE (Den):
0.017
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:

Glycerophospholipid metabolism.7[1], 8[2]

Ratio Explanation:

FADS1/FADS2 desaturase activity alters the pool of polyunsaturated fatty acids available for incorporation into complex lipids, thus influencing the relative abundance of specific sphingomyelins and glycerophosphoethanolamines.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/FADS2 genetic variants alter fatty acid desaturation, affecting the balance of pro- and anti-inflammatory lipids.2[1], 9[2] This dysregulation of lipid metabolism is linked to phenotypes like cholelithiasis and hypercholesterolemia, likely through effects on cholesterol metabolism and inflammatory pathways.9[3], 10[4]

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