sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to stearidonate (18:4n3)

Numerator Metabolite

Metabolite Accession: GCST90199995
Name: sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*
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: 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):
0.308
Position:
61569830
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
14.309
Reference Allele:
C
-log10(P):
-105.263
MAF:
0.339
Beta (Num):
0.186
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.121
SE (Den):
0.015
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], 9[5]

Denominator Metabolite Explanation:

Fatty acid biosynthesis.10[1], 11[2], 12[3]

Ratio Explanation:

The ratio reflects the balance between sphingolipid production and n-3 polyunsaturated fatty acid synthesis, both influenced by the availability of fatty acids regulated by FADS enzymes.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters desaturase activity, impacting the balance of sphingolipids and stearidonate.4[1], 13[2] This dysregulation of lipid metabolism is associated with phenotypes like hypercholesterolemia, type 2 diabetes, and inflammatory conditions such as asthma and inflammatory bowel disease.14[3], 15[4], 16[5], 17[6], 18[7]

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