hexanoylglutamine to 3-hydroxyhexanoate

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 3-hydroxyhexanoate
Metabolite Accession: GCST90200012
Name: 3-hydroxyhexanoate
Hmdb Id: HMDB0061652,HMDB0010718
Super Pathway: NA
Sub Pathway: NA
Inchikey: HPMGFDVTYHWBAG

Associated Genomic Regions

Region: rs77773255

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.292
Position:
76217193
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-19.203
Reference Allele:
G
-log10(P):
-187.567
MAF:
0.306
Beta (Num):
-0.285
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.007
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

Region: rs1177442

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:
6
Beta (Ratio):
-0.322
Position:
25809069
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-22.717
Reference Allele:
G
-log10(P):
-261.379
MAF:
0.441
Beta (Num):
-0.318
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.005
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.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.7[1], 8[2], 9[3], 10[4], 11[5]

Ratio Explanation:

Hexanoylglutamine is a product of fatty acid metabolism, while 3-hydroxyhexanoate is an intermediate in fatty acid beta-oxidation, a pathway impaired by ACADM deficiency.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM function can lead to altered fatty acid metabolism, potentially affecting hematological indices. This may be due to the gene's role in energy production and the accumulation of toxic intermediates impacting hematopoietic cells.

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