methylsuccinoylcarnitine to betaine

Numerator Metabolite

Metabolite Accession: GCST90200089
Name: methylsuccinoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.312
Position:
160564476
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
11.033
Reference Allele:
C
-log10(P):
-63.500
MAF:
0.177
Beta (Num):
0.160
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, energy production.5[1]

Denominator Metabolite Explanation:

Choline metabolism, methyl donor, osmoprotection.6[1], 7[2], 8[3]

Ratio Explanation:

This ratio may reflect a balance between mitochondrial fatty acid metabolism (methylsuccinoylcarnitine) and one-carbon metabolism (betaine), potentially influenced by shared transporters like SLC22A1.4[1], 9[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced function of the SLC22A1 transporter can alter hepatic lipid and energy metabolism, leading to elevated serum cholesterol and LDL levels.1[1], 2[2], 3[3], 10[4] This metabolic shift, reflected partly by the methylsuccinoylcarnitine to betaine ratio, is associated with an increased risk for atherosclerosis and ischemic heart disease.11[5], 12[6]

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