5-dodecenoylcarnitine (c12:1) to stearoylcarnitine (c18)

Numerator Metabolite

Metabolite Accession: GCST90200151
Name: 5-dodecenoylcarnitine (c12:1)
Hmdb Id: HMDB13326
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of stearoylcarnitine (c18)
Metabolite Accession: GCST90199743
Name: stearoylcarnitine (c18)
Hmdb Id: HMDB0000848
Super Pathway: NA
Sub Pathway: NA
Inchikey: FNPHNLNTJNMAEE

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):
-0.237
Position:
102075479
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
-9.837
Reference Allele:
G
-log10(P):
-50.909
MAF:
0.173
Beta (Num):
-0.134
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.103
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 metabolism, beta-oxidation, carnitine shuttle.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Fatty acid metabolism, beta-oxidation, carnitine shuttle.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects the activity of Stearoyl-CoA Desaturase (SCD), where SCD action on C18's precursor (stearoyl-CoA) is linked to levels of other fatty acids.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SCD activity, reflected by the C12:1/C18 ratio, impacts the balance of saturated and monounsaturated fatty acids. This dysregulation of lipid metabolism is associated with an increased risk for atherosclerosis, hypercholesterolemia, and other cardiometabolic diseases.9[1], 10[2], 11[3], 12[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