3-hydroxydecanoylcarnitine to decanoylcarnitine (c10)

Numerator Metabolite

Structure of 3-hydroxydecanoylcarnitine
Metabolite Accession: GCST90200246
Name: 3-hydroxydecanoylcarnitine
Hmdb Id: HMDB0061636
Super Pathway: NA
Sub Pathway: NA
Inchikey: VCRSQDIROUELAR

Denominator Metabolite

Structure of decanoylcarnitine (c10)
Metabolite Accession: GCST90199722
Name: decanoylcarnitine (c10)
Hmdb Id: HMDB0000651
Super Pathway: NA
Sub Pathway: NA
Inchikey: LZOSYCMHQXPBFU

Associated Genomic Regions

Region: rs61622554

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
1
Beta (Ratio):
0.280
Position:
76224748
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
24.226
Reference Allele:
C
-log10(P):
-296.855
MAF:
0.309
Beta (Num):
-0.020
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.300
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

Region: rs17843929

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
4
Beta (Ratio):
0.226
Position:
159637113
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
18.439
Reference Allele:
C
-log10(P):
-173.143
MAF:
0.264
Beta (Num):
0.040
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.186
SE (Den):
0.017
No CNV overlap
rQTL cluster:
118
Reaction Distance:
NA
Closest Genes:
PPID ETFDH C4orf46 FNIP2 RXFP1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Fatty acid beta-oxidation

Ratio Explanation:

An elevated ratio of 3-hydroxydecanoylcarnitine to decanoylcarnitine suggests decreased activity of an enzyme in the fatty acid oxidation pathway, likely ACADM.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM activity, due to genetic variants, impairs the conversion of decanoylcarnitine, leading to its accumulation and subsequent hydroxylation, altering the ratio. This indicates inefficient fatty acid metabolism, a hallmark of ACADM deficiency which can cause hepatic dysfunction and hypoglycemia.1[1], 5[2]

Phenotype Driver:

Gene-centric:ACADM

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