hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-linoleoyl-2-arachidonoyl-gpc (18:2/20:4n6)*

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-linoleoyl-2-arachidonoyl-gpc (18:2/20:4n6)*
Metabolite Accession: GCST90200073
Name: 1-linoleoyl-2-arachidonoyl-gpc (18:2/20:4n6)*
Hmdb Id: HMDB0008147
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZZSZQATYGVHNLZ

Associated Genomic Regions

Region: rs102274

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):
0.574
Position:
61557826
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
25.710
Reference Allele:
T
-log10(P):
-333.968
MAF:
0.340
Beta (Num):
0.276
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.298
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:

Glycerophospholipid metabolism, PUFA biosynthesis.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio reflects FADS-mediated arachidonic acid synthesis (denominator) versus sphingolipid metabolism (numerator). Altered FADS activity directly impacts this balance.1[1], 10[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid metabolism, reflected by the ratio.1[1], 11[2], 3[3] This dysregulation of lipid and inflammatory mediators contributes to phenotypes like dyslipidemia, cholelithiasis, and asthma.12[4], 13[5], 14[6], 15[7], 16[8], 17[9]

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