glutamine conjugate of c7h12o2* to myristoylcarnitine (c14)

Numerator Metabolite

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

Denominator Metabolite

Structure of myristoylcarnitine (c14)
Metabolite Accession: GCST90199730
Name: myristoylcarnitine (c14)
Hmdb Id: HMDB000506
Super Pathway: NA
Sub Pathway: NA
Inchikey: PSHXNVGSVNEJBD

Associated Genomic Regions

Region: rs4705857

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:
5
Beta (Ratio):
-0.171
Position:
131737030
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
-10.635
Reference Allele:
C
-log10(P):
-59.151
MAF:
0.313
Beta (Num):
-0.058
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.113
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 C5orf56 SLC22A4 IRF1 P4HA2

LLM Analysis

Numerator Metabolite Explanation:

Xenobiotic detoxification, Fatty acid metabolism.6[1]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, Carnitine shuttle.7[1], 8[2]

Ratio Explanation:

The ratio likely reflects altered carnitine metabolism due to SLC22A5 variants, impacting the balance between carnitine-dependent and alternative fatty acid conjugation pathways.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC22A5 function impairs carnitine transport, which is crucial for fatty acid oxidation and energy for hematopoietic cells.3[1], 4[2], 9[3] This impairment can lead to altered blood cell counts, including monocytes, neutrophils, and eosinophils, which are associated phenotypes.

Phenotype Driver:

Gene-centric:SLC22A5

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