pregnenediol disulfate (c21h34o8s2)* to 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)

Numerator Metabolite

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

Denominator Metabolite

Metabolite Accession: GCST90199854
Name: 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs72838150

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
10
Beta (Ratio):
-0.323
Position:
101609662
SE (Ratio):
0.035
Effect Allele:
A
Z-score (Ratio):
-9.208
Reference Allele:
G
-log10(P):
-44.852
MAF:
0.059
Beta (Num):
-0.200
Novel Locus:
No
SE (Num):
0.029
Beta (Den):
0.122
SE (Den):
0.033
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
ABCC2 DNMBP CUTC COX15 ENTPD7

Region: rs62129966

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
19
Beta (Ratio):
-0.673
Position:
48374950
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-30.526
Reference Allele:
C
-log10(P):
-469.557
MAF:
0.160
Beta (Num):
-0.509
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.163
SE (Den):
0.021
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroid biosynthesis and sulfation.5[1], 8[2]

Denominator Metabolite Explanation:

Steroid biosynthesis and sulfation.9[1], 10[2]

Ratio Explanation:

This ratio reflects the extent of steroid sulfation, potentially governed by SULT2A1 activity, by comparing a disulfated pregnenediol with a monosulfated pregnanediol derivative.4[1], 11[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in SULT2A1 alters sulfated steroid metabolism.12[1], 13[2] The resulting imbalance of these metabolites in bile, a process potentially also affected by ABCC2 function, can promote cholelithiasis and associated liver damage, as evidenced by the strong phenotype association.14[3], 15[4], 16[5], 17[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