21-hydroxypregnenolone disulfate to pregnenediol sulfate (c21h34o5s)*

Numerator Metabolite

Structure of 21-hydroxypregnenolone disulfate
Metabolite Accession: GCST90199849
Name: 21-hydroxypregnenolone disulfate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBOVWLYQUCVTFA

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: rs12132488

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:
1
Beta (Ratio):
-0.187
Position:
47389613
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
-12.647
Reference Allele:
C
-log10(P):
-82.741
MAF:
0.128
Beta (Num):
-0.189
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
-0.002
SE (Den):
0.020
No CNV overlap
rQTL cluster:
163
Reaction Distance:
NA
Closest Genes:
CYP4A11 CYP4X1 CYP4B1 CYP4Z1 EFCAB14

Region: rs11045856

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:
12
Beta (Ratio):
-0.140
Position:
21350689
SE (Ratio):
0.011
Effect Allele:
G
Z-score (Ratio):
-12.376
Reference Allele:
T
-log10(P):
-79.329
MAF:
0.239
Beta (Num):
-0.157
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.017
SE (Den):
0.015
No CNV overlap
rQTL cluster:
54
Reaction Distance:
NA
Closest Genes:
SLCO1B1 RP11-125O5.2 SLCO1A2 SLCO1B7 LST3

Region: rs2762353

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:
6
Beta (Ratio):
0.148
Position:
25794431
SE (Ratio):
0.010
Effect Allele:
A
Z-score (Ratio):
15.078
Reference Allele:
G
-log10(P):
-116.618
MAF:
0.445
Beta (Num):
0.161
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.013
SE (Den):
0.013
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A4 SLC17A3 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Steroid hormone biosynthesis.6[1], 7[2]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio likely reflects altered hepatic clearance of sulfated steroids via the SLCO1B1 transporter, leading to changes in their circulating balance.3[1], 5[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLCO1B1 transporter function impairs hepatic uptake of both steroid sulfates and urate. This provides a plausible genetic link between an altered steroid profile, hyperuricemia, and the associated phenotypes of gout and hypertension.10[1], 11[2], 12[3]

Phenotype Driver:

Gene-centric:SLCO1B1

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