3-hydroxyhexanoylcarnitine (1) to glutamine conjugate of c6h10o2 (1)*

Numerator Metabolite

Structure of 3-hydroxyhexanoylcarnitine (1)
Metabolite Accession: GCST90200228
Name: 3-hydroxyhexanoylcarnitine (1)
Hmdb Id: HMDB0013131
Super Pathway: NA
Sub Pathway: NA
Inchikey: VYEONLJQPYRKAN

Denominator Metabolite

Metabolite Accession: GCST90200176
Name: glutamine conjugate of c6h10o2 (1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs611084

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.098
Position:
131709739
SE (Ratio):
0.012
Effect Allele:
C
Z-score (Ratio):
8.082
Reference Allele:
A
-log10(P):
-34.987
MAF:
0.372
Beta (Num):
0.042
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
-0.056
SE (Den):
0.016
No CNV overlap
rQTL cluster:
Reaction Distance:
NA

Region: rs12208357

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.190
Position:
160543148
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-8.369
Reference Allele:
C
-log10(P):
-37.388
MAF:
0.070
Beta (Num):
-0.054
Novel Locus:
Yes ✔️
SE (Num):
0.029
Beta (Den):
0.136
SE (Den):
0.029
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Xenobiotic metabolism, detoxification.

Ratio Explanation:

The ratio may reflect carnitine-dependent fatty acid oxidation activity relative to a detoxification pathway, potentially linked by the broad substrate handling of SLC transporters.4[1], 10[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in the SLC22A5 carnitine transporter alter fatty acid oxidation, directly impacting lipid profiles and lipoprotein disorders.11[1], 12[2], 13[3] Its role as a renal organic cation transporter may also affect urate handling, linking it to gout.14[4], 15[5], 11[6]

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