5alpha-androstan-3beta,17beta-diol disulfate to 5alpha-androstan-3alpha,17alpha-diol monosulfate

Numerator Metabolite

Metabolite Accession: GCST90199835
Name: 5alpha-androstan-3beta,17beta-diol disulfate
Hmdb Id: HMDB00493
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 5alpha-androstan-3alpha,17alpha-diol monosulfate
Metabolite Accession: GCST90199850
Name: 5alpha-androstan-3alpha,17alpha-diol monosulfate
Hmdb Id: HMDB0000412
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBMYJHIOYJEBSB

Associated Genomic Regions

Region: rs75406471

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.317
Position:
5257647
SE (Ratio):
0.027
Effect Allele:
A
Z-score (Ratio):
11.546
Reference Allele:
G
-log10(P):
-69.339
MAF:
0.150
Beta (Num):
0.089
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.228
SE (Den):
0.026
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.314
Position:
5258450
SE (Ratio):
0.028
Effect Allele:
T
Z-score (Ratio):
11.423
Reference Allele:
G
-log10(P):
-67.909
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.226
SE (Den):
0.026
No CNV overlap
rQTL cluster:
217
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

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SNP Summary

Chr:
10
Beta (Ratio):
0.317
Position:
5262965
SE (Ratio):
0.028
Effect Allele:
C
Z-score (Ratio):
11.501
Reference Allele:
A
-log10(P):
-68.814
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.228
SE (Den):
0.026
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Androgen and Steroid Metabolism.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Androgen and Steroid Metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio reflects the activity of steroid metabolizing enzymes like AKR1C4, which primarily catalyzes the formation of 3-alpha-hydroxysteroids over 3-beta isomers.11[1], 12[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered AKR1C4 activity changes androgen and bile acid metabolism in the liver.3[1], 4[2], 13[3] This likely drives changes in hepatic lipid metabolism and function, reflected by associations with triglycerides, cholesterol, and liver enzymes like GGT and ALP.14[4], 15[5]

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