3-hydroxyoleoylcarnitine to stearate (18:0)

Numerator Metabolite

Structure of 3-hydroxyoleoylcarnitine
Metabolite Accession: GCST90200158
Name: 3-hydroxyoleoylcarnitine
Hmdb Id: HMDB0240761
Super Pathway: NA
Sub Pathway: NA
Inchikey: YBCVTTMMURGSEY

Denominator Metabolite

Structure of stearate (18:0)
Metabolite Accession: GCST90200390
Name: stearate (18:0)
Hmdb Id: HMDB0000827
Super Pathway: NA
Sub Pathway: NA
Inchikey: QIQXTHQIDYTFRH

Associated Genomic Regions

Region: rs603424

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.159
Position:
102075479
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-7.778
Reference Allele:
G
-log10(P):
-32.541
MAF:
0.176
Beta (Num):
-0.062
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.097
SE (Den):
0.020
No CNV overlap
rQTL cluster:
67
Reaction Distance:
NA
Closest Genes:
PKD2L1 BLOC1S2 SCD CWF19L1 CHUK

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Fatty acid biosynthesis.3[1], 4[2]

Ratio Explanation:

The ratio of 3-hydroxyoleoylcarnitine (from oleate) to stearate reflects Stearoyl-CoA Desaturase (SCD) activity, indicating the conversion rate of saturated to monounsaturated fats.5[1], 6[2], 7[3], 8[4]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SCD activity, reflected by the ratio, impacts lipid profiles and membrane composition.7[1] This dysregulation is strongly associated with cardiovascular phenotypes like atherosclerosis, myocardial infarction, and hypercholesterolemia by affecting lipoprotein metabolism and inflammation.9[2], 10[3], 11[4]

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