glutamine conjugate of c6h10o2 (2)* to acetylcarnitine (c2)

Numerator Metabolite

Metabolite Accession: GCST90200173
Name: glutamine conjugate of c6h10o2 (2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of acetylcarnitine (c2)
Metabolite Accession: GCST90199669
Name: acetylcarnitine (c2)
Hmdb Id: HMDB0000201
Super Pathway: NA
Sub Pathway: NA
Inchikey: RDHQFKQIGNGIED

Associated Genomic Regions

Region: rs35630725;rs1890452

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):
0.160
Position:
76192508
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
10.201
Reference Allele:
G
-log10(P):
-54.589
MAF:
0.337
Beta (Num):
0.129
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.030
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

Region: rs274546

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:
5
Beta (Ratio):
-0.162
Position:
131699867
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-10.534
Reference Allele:
G
-log10(P):
-58.070
MAF:
0.373
Beta (Num):
-0.050
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.112
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 SLC22A4 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, Glutamine conjugation.6[1], 7[2]

Denominator Metabolite Explanation:

Fatty acid oxidation, Carnitine shuttle.8[1], 9[2], 10[3], 11[4]

Ratio Explanation:

The ratio may reflect a shift in fatty acid metabolism where incomplete oxidation by ACADM leads to less acetylcarnitine and alternative clearance via glutamine conjugation.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in ACADM alters fatty acid oxidation, impacting energy homeostasis.12[1] This metabolic disruption could plausibly affect the production and function of various blood cells, leading to observed changes in neutrophil, platelet, and other hematopoietic cell counts.13[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