pregnenolone sulfate to pregnenediol sulfate (c21h34o5s)*

Numerator Metabolite

Structure of pregnenolone sulfate
Metabolite Accession: GCST90199873
Name: pregnenolone sulfate
Hmdb Id: HMDB0000774
Super Pathway: NA
Sub Pathway: NA
Inchikey: DIJBBUIOWGGQOP

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: rs4881413

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):
0.148
Position:
5258450
SE (Ratio):
0.013
Effect Allele:
T
Z-score (Ratio):
11.001
Reference Allele:
G
-log10(P):
-63.139
MAF:
0.152
Beta (Num):
0.093
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
-0.055
SE (Den):
0.019
No CNV overlap
rQTL cluster:
217
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs17134601

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):
0.148
Position:
5261175
SE (Ratio):
0.013
Effect Allele:
G
Z-score (Ratio):
11.008
Reference Allele:
A
-log10(P):
-63.216
MAF:
0.151
Beta (Num):
0.093
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
-0.055
SE (Den):
0.019
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs2151901

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):
0.148
Position:
5262965
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
11.020
Reference Allele:
A
-log10(P):
-63.349
MAF:
0.152
Beta (Num):
0.094
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
-0.054
SE (Den):
0.019
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Numerator Pathway(s): Steroidogenesis, steroid hormone biosynthesis.3[1], 4[2]

Denominator Metabolite Explanation:

Denominator Pathway(s): Progesterone metabolism, steroid hormone biosynthesis.5[1], 6[2]

Ratio Explanation:

Ratio Interpretation: The ratio reflects the conversion of pregnenolone sulfate to pregnenediol sulfate, a metabolic step influenced by hydroxysteroid dehydrogenase enzymes like AKR1C4.7[1], 8[2]

Ratio Evidence:

canonical reaction, not mediated by an associated enzyme

Gene Ratio Phenotype Relationship:

The AKR1C4 gene's role in steroid metabolism is linked to hypertension.9[1], 10[2], 11[3] Altered AKR1C4 activity can affect blood pressure regulation. Gout has also been associated with AKR enzymes, suggesting a role in pathways leading to this condition.12[4], 13[5], 14[6]

Phenotype Driver:

Gene-centric:AKR1C4

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