sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to stearidonate (18:4n3)

Numerator Metabolite

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of stearidonate (18:4n3)
Metabolite Accession: GCST90199721
Name: stearidonate (18:4n3)
Hmdb Id: HMDB0006547
Super Pathway: NA
Sub Pathway: NA
Inchikey: JIWBIWFOSCKQMA

Associated Genomic Regions

Region: rs4246215

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:
61564299
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
9.733
Reference Allele:
G
-log10(P):
-49.873
MAF:
0.353
Beta (Num):
0.080
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.120
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FEN1 FADS1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.2[1], 3[2]

Denominator Metabolite Explanation:

Omega-3 fatty acid metabolism.4[1]

Ratio Explanation:

The ratio reflects the balance between sphingolipid synthesis and polyunsaturated fatty acid metabolism, influenced by FADS desaturase activity on shared fatty acid precursors.5[1], 6[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters fatty acid desaturation, affecting sphingolipid and polyunsaturated fatty acid levels.7[1], 5[2], 8[3] This dysregulation is linked to phenotypes including hypercholesterolemia, asthma, dermatitis, and type 2 diabetes.9[4], 10[5], 11[6]

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