3-methylglutarylcarnitine (2) to betaine

Numerator Metabolite

Structure of 3-methylglutarylcarnitine (2)
Metabolite Accession: GCST90199971
Name: 3-methylglutarylcarnitine (2)
Hmdb Id: HMDB0000552
Super Pathway: NA
Sub Pathway: NA
Inchikey: HFCPFJNSBPQJDP

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: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
0.468
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
20.984
Reference Allele:
C
-log10(P):
-223.446
MAF:
0.309
Beta (Num):
0.312
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.156
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

Region: rs112201728

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.471
Position:
160551486
SE (Ratio):
0.041
Effect Allele:
T
Z-score (Ratio):
11.520
Reference Allele:
C
-log10(P):
-69.029
MAF:
0.069
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.029
Beta (Den):
-0.193
SE (Den):
0.029
No CNV overlap
rQTL cluster:
98
Reaction Distance:
NA
Closest Genes:
SLC22A1 IGF2R SLC22A2 SLC22A3 MAS1

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism, fatty acid metabolism.8[1], 9[2], 10[3], 11[4]

Denominator Metabolite Explanation:

Choline oxidation, one-carbon metabolism.12[1], 13[2], 14[3], 15[4]

Ratio Explanation:

An elevated ratio of 3-methylglutarylcarnitine to betaine may reflect disrupted mitochondrial fatty acid oxidation and impaired methylation capacity, impacting energy metabolism and detoxification.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired SLC22A1 or CPS1 function may disrupt mitochondrial homeostasis, reflected by the metabolite ratio, and contribute to lipoprotein abnormalities and cholelithiasis through altered lipid metabolism and oxidative stress.16[1], 17[2], 18[3]

Phenotype Driver:

Gene-centric:CPS1

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