5alpha-androstan-3beta,17alpha-diol disulfate to 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)

Numerator Metabolite

Structure of 5alpha-androstan-3beta,17alpha-diol disulfate
Metabolite Accession: GCST90199852
Name: 5alpha-androstan-3beta,17alpha-diol disulfate
Hmdb Id: HMDB0094682
Super Pathway: NA
Sub Pathway: NA
Inchikey: JHFAETDERBWUOO

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: rs75406471

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.255
Position:
5257647
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
-9.927
Reference Allele:
G
-log10(P):
-51.803
MAF:
0.142
Beta (Num):
-0.145
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
0.110
SE (Den):
0.022
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):
-0.251
Position:
5258450
SE (Ratio):
0.026
Effect Allele:
T
Z-score (Ratio):
-9.744
Reference Allele:
G
-log10(P):
-49.982
MAF:
0.142
Beta (Num):
-0.142
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
0.109
SE (Den):
0.022
No CNV overlap
rQTL cluster:
217
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs2151901

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.252
Position:
5262965
SE (Ratio):
0.026
Effect Allele:
C
Z-score (Ratio):
-9.762
Reference Allele:
A
-log10(P):
-50.163
MAF:
0.142
Beta (Num):
-0.143
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
0.109
SE (Den):
0.022
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs10426201

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.336
Position:
48384749
SE (Ratio):
0.024
Effect Allele:
G
Z-score (Ratio):
-13.857
Reference Allele:
A
-log10(P):
-98.868
MAF:
0.165
Beta (Num):
-0.177
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
0.159
SE (Den):
0.021
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 BSPH1

LLM Analysis

Numerator Metabolite Explanation:

Androgen and steroid metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Progesterone and steroid metabolism.6[1], 7[2]

Ratio Explanation:

This ratio reflects the balance between androgen and progesterone metabolite sulfation, activities influenced by both AKR1C4 in steroid reduction and SULT2A1 in sulfoconjugation.3[1], 8[2], 9[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 and AKR1C4, enzymes involved in steroid and bile acid metabolism, alter the balance of sulfated steroid metabolites.8[1], 2[2], 10[3], 11[4] This imbalance contributes to bile supersaturation with cholesterol, a key factor in the formation of gallstones (cholelithiasis).12[5], 13[6], 10[7]

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