pregnenediol disulfate (c21h34o8s2)* to 3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-cmpfp)**

Numerator Metabolite

Metabolite Accession: GCST90199840
Name: pregnenediol disulfate (c21h34o8s2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-cmpfp)**
Metabolite Accession: GCST90200172
Name: 3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-cmpfp)**
Hmdb Id: HMDB0061643
Super Pathway: NA
Sub Pathway: NA
Inchikey: RIJDKRLRDVBUHJ

Associated Genomic Regions

Region: rs112997117

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:
10
Beta (Ratio):
-0.408
Position:
101619779
SE (Ratio):
0.043
Effect Allele:
C
Z-score (Ratio):
-9.519
Reference Allele:
T
-log10(P):
-47.798
MAF:
0.059
Beta (Num):
-0.197
Novel Locus:
No
SE (Num):
0.029
Beta (Den):
0.210
SE (Den):
0.032
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
ABCC2 DNMBP CUTC COX15 ENTPD7

LLM Analysis

Numerator Metabolite Explanation:

Pregnenediol disulfate is a product of steroidogenesis and subsequent sulfation.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-cmpfp) is a metabolite of furanoid fatty acids.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio of pregnenediol disulfate to 3-cmpfp may reflect altered ABCC2-mediated transport, as both are substrates, indicating potential liver or kidney dysfunction.11[1], 12[2], 13[3], 14[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired ABCC2 function due to genetic variants can disrupt the transport of bile acids and other organic anions, leading to cholestasis and liver cell injury, which manifests as elevated GGT, AST, and ALT.15[1], 16[2], 17[3], 18[4]

Phenotype Driver:

Gene-centric:ABCC2

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