sphingomyelin (d18:1/18:1, d18:2/18:0) to palmitoleoylcarnitine (c16:1)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/18:1, d18:2/18:0)
Metabolite Accession: GCST90199878
Name: sphingomyelin (d18:1/18:1, d18:2/18:0)
Hmdb Id: HMDB0012101
Super Pathway: NA
Sub Pathway: NA
Inchikey: NBEADXWAAWCCDG

Denominator Metabolite

Structure of palmitoleoylcarnitine (c16:1)*
Metabolite Accession: GCST90200110
Name: palmitoleoylcarnitine (c16:1)*
Hmdb Id: HMDB0240782
Super Pathway: NA
Sub Pathway: NA
Inchikey: JFAGPSOZZSTLRF

Associated Genomic Regions

Region: rs603424

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:
10
Beta (Ratio):
0.208
Position:
102075479
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
9.011
Reference Allele:
G
-log10(P):
-43.034
MAF:
0.176
Beta (Num):
0.078
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.130
SE (Den):
0.019
No CNV overlap
rQTL cluster:
67
Reaction Distance:
NA
Closest Genes:
PKD2L1 BLOC1S2 SCD CWF19L1 CHUK

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism, ceramide biosynthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, carnitine shuttle.7[1], 8[2]

Ratio Explanation:

The ratio reflects SCD activity, balancing fatty acid precursors for complex sphingolipid synthesis (numerator) against those for fatty acid oxidation (denominator).1[1], 7[2], 9[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

SCD's role in creating monounsaturated fatty acids impacts lipid profiles, membrane composition, and cellular signaling, which are central to the pathogenesis of atherosclerosis, hypercholesterolemia, and myocardial infarction.10[1], 11[2], 12[3] Altered SCD activity is directly implicated in these cardiometabolic diseases.11[4], 13[5]

Phenotype Driver:

Gene-centric:SCD

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