butyrylcarnitine (c4) to ethylmalonate

Numerator Metabolite

Structure of butyrylcarnitine (c4)
Metabolite Accession: GCST90200673
Name: butyrylcarnitine (c4)
Hmdb Id: HMDB0002013
Super Pathway: NA
Sub Pathway: NA
Inchikey: QWYFHHGCZUCMBN

Denominator Metabolite

Structure of ethylmalonate
Metabolite Accession: GCST90200705
Name: ethylmalonate
Hmdb Id: HMDB0000622
Super Pathway: NA
Sub Pathway: NA
Inchikey: UKFXDFUAPNAMPJ

Associated Genomic Regions

Region: rs7539768

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.206
Position:
219321179
SE (Ratio):
0.020
Effect Allele:
G
Z-score (Ratio):
-10.259
Reference Allele:
T
-log10(P):
-55.184
MAF:
0.112
Beta (Num):
-0.017
Novel Locus:
No
SE (Num):
0.024
Beta (Den):
0.189
SE (Den):
0.024
No CNV overlap
rQTL cluster:
179
Reaction Distance:
NA
Closest Genes:
LYPLAL1 SLC30A10 C1orf143 TGFB2 RRP15

Region: rs272857

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.122
Position:
131685297
SE (Ratio):
0.013
Effect Allele:
G
Z-score (Ratio):
9.283
Reference Allele:
A
-log10(P):
-45.548
MAF:
0.373
Beta (Num):
0.098
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.024
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 P4HA2 C5orf56 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, lipid transport.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid metabolism.7[1]

Ratio Explanation:

An elevated butyrylcarnitine to ethylmalonate ratio may suggest altered fatty acid oxidation, potentially influenced by SLC22A1's role in carnitine transport.3[1], 7[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced function of the SLC22A1 transporter can alter carnitine homeostasis, impacting fatty acid metabolism and leading to dyslipidemia, which aligns with the observed lipoprotein metabolism disorder phenotype.2[1], 8[2], 9[3], 10[4]

Phenotype Driver:

Gene-centric:SLC22A1

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