sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to 1-linoleoyl-gpc (18:2)

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-linoleoyl-gpc (18:2)
Metabolite Accession: GCST90199742
Name: 1-linoleoyl-gpc (18:2)
Hmdb Id: HMDB0010386
Super Pathway: NA
Sub Pathway: NA
Inchikey: SPJFYYJXNPEZDW

Associated Genomic Regions

Region: rs174546

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):
-0.200
Position:
61569830
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
-10.781
Reference Allele:
C
-log10(P):
-60.731
MAF:
0.339
Beta (Num):
-0.072
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
0.129
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Linoleate metabolism.1[1], 2[2], 9[3]

Ratio Explanation:

This ratio reflects the balance between sphingolipid and glycerophospholipid synthesis, which is influenced by FADS1/FADS2 activity on the fatty acid precursors of both lipid classes.10[1], 4[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid metabolism, which is crucial for synthesizing inflammatory mediators and maintaining cell membrane composition.1[1], 3[2], 11[3], 10[4] This dysregulation impacts pathways linked to inflammatory conditions like IBD and metabolic disorders like type 2 diabetes and cholelithiasis.12[5], 13[6], 14[7], 15[8], 16[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