nonanoylcarnitine (c9) to glutamine conjugate of c7h12o2*

Numerator Metabolite

Structure of nonanoylcarnitine (c9)
Metabolite Accession: GCST90200031
Name: nonanoylcarnitine (c9)
Hmdb Id: HMDB0013288
Super Pathway: NA
Sub Pathway: NA
Inchikey: MPSPNFAQQQMFLK

Denominator Metabolite

Metabolite Accession: GCST90200167
Name: glutamine conjugate of c7h12o2*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs61622554

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:
1
Beta (Ratio):
-0.486
Position:
76224748
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
-25.449
Reference Allele:
C
-log10(P):
-327.281
MAF:
0.303
Beta (Num):
-0.379
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.107
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Xenobiotic metabolism, Glutamate metabolism.6[1]

Ratio Explanation:

An elevated ratio of nonanoylcarnitine to a glutamine conjugate suggests impaired ACADM activity, causing accumulation of its upstream medium-chain acylcarnitine substrate.7[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Variants in ACADM impair its enzymatic function, disrupting fatty acid oxidation and causing an accumulation of nonanoylcarnitine, which is a primary diagnostic marker for MCAD deficiency.7[1], 8[2], 9[3]

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