pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc) to betaine

Numerator Metabolite

Structure of pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)
Metabolite Accession: GCST90200101
Name: pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)
Hmdb Id: HMDB0013328
Super Pathway: NA
Sub Pathway: NA
Inchikey: NTBUXPPQHCFLOM

Denominator Metabolite

Structure of betaine
Metabolite Accession: GCST90200425
Name: betaine
Hmdb Id: HMDB0000043
Super Pathway: NA
Sub Pathway: NA
Inchikey: KWIUHFFTVRNATP

Associated Genomic Regions

Region: rs662138

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:
6
Beta (Ratio):
0.359
Position:
160564476
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
13.590
Reference Allele:
C
-log10(P):
-95.188
MAF:
0.179
Beta (Num):
0.207
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.152
SE (Den):
0.020
No CNV overlap
rQTL cluster:
97
Reaction Distance:
NA
Closest Genes:
SLC22A1 SLC22A2 IGF2R SLC22A3 MAS1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism.4[1]

Denominator Metabolite Explanation:

Methionine metabolism, Choline metabolism.5[1], 6[2], 7[3]

Ratio Explanation:

The ratio may reflect altered hepatic fatty acid and one-carbon metabolism, potentially modulated by SLC22A1-mediated transport of both pimeloylcarnitine and choline, a precursor to betaine.1[1], 8[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Gene-centric:SLC22A1's role in transporting acylcarnitines and influencing hepatic lipid metabolism likely drives the association with dyslipidemia and ischemic heart disease, with the metabolite ratio being a downstream biomarker.1[1], 2[2], 9[3], 3[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