nervonoylcarnitine (c24:1)* to stearoylcarnitine (c18)

Numerator Metabolite

Metabolite Accession: GCST90200143
Name: nervonoylcarnitine (c24:1)*
Hmdb Id: NA
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

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.155
Position:
102075479
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
-7.974
Reference Allele:
G
-log10(P):
-34.109
MAF:
0.176
Beta (Num):
-0.052
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

Region: rs2229738

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.258
Position:
68562328
SE (Ratio):
0.029
Effect Allele:
T
Z-score (Ratio):
8.992
Reference Allele:
C
-log10(P):
-42.864
MAF:
0.071
Beta (Num):
0.198
Novel Locus:
Yes ✔️
SE (Num):
0.030
Beta (Den):
-0.060
SE (Den):
0.030
No CNV overlap
rQTL cluster:
57
Reaction Distance:
NA
Closest Genes:
CPT1A MTL5 MRPL21 GAL IGHMBP2

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, Mitochondrial beta-oxidation of long-chain fatty acids

Denominator Metabolite Explanation:

Fatty acid metabolism, Mitochondrial beta-oxidation of long-chain saturated fatty acids6[1], 7[2]

Ratio Explanation:

The ratio of nervonoylcarnitine (C24:1) to stearoylcarnitine (C18) reflects the relative efficiency of mitochondrial fatty acid oxidation, influenced by CPT1A enzyme activity.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPT1A gene variants are associated with altered fatty acid metabolism, reflected in the acylcarnitine ratio, and have been linked to cardiovascular phenotypes like coronary atherosclerosis and dyslipidemia through their impact on lipid profiles and energy homeostasis.8[1], 9[2], 10[3]

Phenotype Driver:

Gene-centric:CPT1A

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