sphingomyelin (d18:1/14:0, d16:1/16:0)* to sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/14:0, d16:1/16:0)*
Metabolite Accession: GCST90199945
Name: sphingomyelin (d18:1/14:0, d16:1/16:0)*
Hmdb Id: HMDB0012097
Super Pathway: NA
Sub Pathway: NA
Inchikey: KYICBZWZQPCUMO

Denominator 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

Associated Genomic Regions

Region: rs174566

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):
0.140
Position:
61592362
SE (Ratio):
0.014
Effect Allele:
G
Z-score (Ratio):
10.139
Reference Allele:
A
-log10(P):
-53.956
MAF:
0.345
Beta (Num):
0.042
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.098
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis/metabolism.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis/metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

This ratio reflects the balance of sphingomyelin species, influenced by FADS1/FADS2 activity which modulates the availability of different fatty acid precursors for sphingolipid synthesis.9[1], 10[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter fatty acid desaturation, affecting the composition of sphingomyelins.9[1], 10[2] This dyslipidemia, particularly changes in specific sphingomyelin species, is associated with valvular heart disease and cholelithiasis, likely by influencing inflammation and lipid deposition.11[3], 12[4], 13[5]

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