3b-hydroxy-5-cholenoic acid to pregnenediol sulfate (c21h34o5s)*

Numerator Metabolite

Structure of 3b-hydroxy-5-cholenoic acid
Metabolite Accession: GCST90199933
Name: 3b-hydroxy-5-cholenoic acid
Hmdb Id: HMDB0000308
Super Pathway: NA
Sub Pathway: NA
Inchikey: HIAJCGFYHIANNA

Denominator Metabolite

Structure of pregnenediol sulfate (c21h34o5s)*
Metabolite Accession: GCST90199861
Name: pregnenediol sulfate (c21h34o5s)*
Hmdb Id: HMDB0000774
Super Pathway: NA
Sub Pathway: NA
Inchikey: DIJBBUIOWGGQOP

Associated Genomic Regions

Region: rs62129966

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:
19
Beta (Ratio):
0.294
Position:
48374950
SE (Ratio):
0.029
Effect Allele:
A
Z-score (Ratio):
10.225
Reference Allele:
C
-log10(P):
-54.839
MAF:
0.165
Beta (Num):
0.161
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.133
SE (Den):
0.018
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Bile acid biosynthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Steroid hormone biosynthesis.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio reflects SULT2A1 activity, where lower activity leads to a higher ratio of the substrate 3b-hydroxy-5-cholenoic acid to the unrelated sulfated steroid pregnenediol sulfate.2[1], 3[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity likely decreases the sulfation and excretion of 3b-hydroxy-5-cholenoic acid, a bile acid.1[1], 2[2] Altered bile acid metabolism is a known risk factor for cholelithiasis and cholecystitis, consistent with the observed phenotypes.10[3], 11[4], 12[5], 13[6]

Phenotype Driver:

Gene-centric:SULT2A1

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