epiandrosterone sulfate to androsterone sulfate

Numerator Metabolite

Structure of epiandrosterone sulfate
Metabolite Accession: GCST90199752
Name: epiandrosterone sulfate
Hmdb Id: HMDB0062657
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZMITXKRGXGRMKS

Denominator Metabolite

Structure of androsterone sulfate
Metabolite Accession: GCST90200674
Name: androsterone sulfate
Hmdb Id: HMDB0002759
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZMITXKRGXGRMKS

Associated Genomic Regions

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.109
Position:
5258450
SE (Ratio):
0.009
Effect Allele:
T
Z-score (Ratio):
12.311
Reference Allele:
G
-log10(P):
-78.527
MAF:
0.150
Beta (Num):
0.087
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
-0.022
SE (Den):
0.021
No CNV overlap
rQTL cluster:
217
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs17134601

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.109
Position:
5261175
SE (Ratio):
0.009
Effect Allele:
G
Z-score (Ratio):
12.339
Reference Allele:
A
-log10(P):
-78.875
MAF:
0.149
Beta (Num):
0.087
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
-0.022
SE (Den):
0.021
No CNV overlap
rQTL cluster:
76
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):
0.109
Position:
5262965
SE (Ratio):
0.009
Effect Allele:
C
Z-score (Ratio):
12.302
Reference Allele:
A
-log10(P):
-78.410
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
-0.021
SE (Den):
0.021
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs296380

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.077
Position:
48371283
SE (Ratio):
0.009
Effect Allele:
G
Z-score (Ratio):
8.989
Reference Allele:
A
-log10(P):
-42.836
MAF:
0.161
Beta (Num):
-0.053
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
-0.130
SE (Den):
0.020
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Androgen and Estrogen Metabolism.3[1]

Denominator Metabolite Explanation:

Androgen and Estrogen Metabolism.3[1]

Ratio Explanation:

This ratio reflects the relative activity of enzymes involved in the interconversion and sulfation of androgen metabolites, where AKR1C4 and SULT2A1 play significant roles.1[1], 4[2], 5[3], 6[4]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variations in SULT2A1 and AKR1C4 are associated with an increased risk of cholelithiasis.7[1], 8[2], 9[3], 10[4], 11[5], 12[6] Altered activity of these enzymes can disrupt bile acid and steroid metabolism, contributing to gallstone formation.2[7], 7[8], 9[9]

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