eicosenoylcarnitine (c20:1)* to stearoylcarnitine (c18)

Numerator Metabolite

Structure of eicosenoylcarnitine (c20:1)*
Metabolite Accession: GCST90200148
Name: eicosenoylcarnitine (c20:1)*
Hmdb Id: HMDB0240746
Super Pathway: NA
Sub Pathway: NA
Inchikey: PVOQPLSKYNZHOT

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):
-0.150
Position:
102075479
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
-8.325
Reference Allele:
G
-log10(P):
-37.009
MAF:
0.176
Beta (Num):
-0.047
Novel Locus:
Yes ✔️
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/oxidation4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid metabolism/oxidation4[1], 6[2], 7[3]

Ratio Explanation:

The ratio of eicosenoylcarnitine (C20:1) to stearoylcarnitine (C18) reflects the activity of fatty acid desaturation and subsequent elongation, influenced by the SCD gene.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SCD activity, reflected by the C20:1/C18 ratio, is associated with dysregulated lipid metabolism.8[1], 9[2], 10[3] This dysregulation is a known contributor to the development of atherosclerosis, hypercholesterolemia, and other related cardiovascular diseases observed in the associated phenotypes.8[4], 9[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