cis-3,4-methyleneheptanoylcarnitine to glycine conjugate of c10h14o2 (1)*

Numerator Metabolite

Metabolite Accession: GCST90200266
Name: cis-3,4-methyleneheptanoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200175
Name: glycine conjugate of c10h14o2 (1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs75794524

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.378
Position:
96694591
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
-14.567
Reference Allele:
G
-log10(P):
-109.005
MAF:
0.064
Beta (Num):
0.009
Novel Locus:
No
SE (Num):
0.031
Beta (Den):
0.387
SE (Den):
0.032
No CNV overlap
rQTL cluster:
72
Reaction Distance:
NA
Closest Genes:
CYP2C9 CYP2C19 CYP2C8 CYP2C18 C10orf129

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.151
Position:
211540507
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-10.956
Reference Allele:
C
-log10(P):
-62.641
MAF:
0.310
Beta (Num):
-0.078
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
0.074
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Fatty Acid Metabolism (Acyl Carnitine, Medium Chain)4[1]

Denominator Metabolite Explanation:

Partially Characterized Molecules5[1]

Ratio Explanation:

The ratio may reflect altered CYP4B1-mediated fatty acid or xenobiotic metabolism, where decreased activity could lead to accumulation of the numerator relative to the denominator.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered CYP4B1 function due to genetic variation can impact fatty acid and xenobiotic metabolism, potentially contributing to the risk of cholelithiasis and renal dysfunction.6[1], 7[2], 8[3], 9[4]

Phenotype Driver:

Gene-centric:CYP4B1

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