hexanoylglutamine to myristoleoylcarnitine (c14:1)*

Numerator Metabolite

Structure of hexanoylglutamine
Metabolite Accession: GCST90199833
Name: hexanoylglutamine
Hmdb Id: HMDB0242182
Super Pathway: NA
Sub Pathway: NA
Inchikey: NONGMLDQXRDGIT

Denominator Metabolite

Structure of myristoleoylcarnitine (c14:1)*
Metabolite Accession: GCST90199979
Name: myristoleoylcarnitine (c14:1)*
Hmdb Id: HMDB0240588
Super Pathway: NA
Sub Pathway: NA
Inchikey: ABVVZYXTZLEOHP

Associated Genomic Regions

Region: rs77773255

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.276
Position:
76217193
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-18.997
Reference Allele:
G
-log10(P):
-183.623
MAF:
0.306
Beta (Num):
-0.285
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.009
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

Region: rs1165195

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.318
Position:
25815080
SE (Ratio):
0.014
Effect Allele:
T
Z-score (Ratio):
-23.412
Reference Allele:
G
-log10(P):
-277.433
MAF:
0.441
Beta (Num):
-0.317
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
4.55e-04
SE (Den):
0.015
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Fatty Acid Metabolism (Acyl Glutamine)3[1]

Denominator Metabolite Explanation:

Fatty Acid Metabolism (Acyl Carnitine)4[1]

Ratio Explanation:

A lower ACADM activity, the causal gene, can lead to the accumulation of hexanoylglutamine and decreased levels of myristoleoylcarnitine (c14:1)*, reflecting impaired fatty acid oxidation.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced ACADM activity leads to altered fatty acid metabolism, reflected in the hexanoylglutamine to myristoleoylcarnitine (c14:1)* ratio. This metabolic disruption may contribute to the observed hematological phenotypes, including changes in MCHC, MCH, and hemoglobin, and is associated with variations in uric acid and creatinine.

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