5alpha-pregnan-3beta,20alpha-diol monosulfate (2) to pregnenediol sulfate (c21h34o5s)*

Numerator Metabolite

Metabolite Accession: GCST90199854
Name: 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.164
Position:
5258450
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
8.596
Reference Allele:
G
-log10(P):
-39.337
MAF:
0.150
Beta (Num):
0.109
Novel Locus:
Yes ✔️
SE (Num):
0.022
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: rs2151901

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.163
Position:
5262965
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
8.547
Reference Allele:
A
-log10(P):
-38.907
MAF:
0.150
Beta (Num):
0.109
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
-0.054
SE (Den):
0.019
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs142122182

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.167
Position:
5263341
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
8.738
Reference Allele:
A
-log10(P):
-40.586
MAF:
0.150
Beta (Num):
0.112
Novel Locus:
Yes ✔️
SE (Num):
0.022
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: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.296
Position:
48374950
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
16.120
Reference Allele:
C
-log10(P):
-132.932
MAF:
0.162
Beta (Num):
0.163
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.133
SE (Den):
0.018
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroid hormone biosynthesis.3[1], 4[2]

Denominator Metabolite Explanation:

Steroid hormone biosynthesis.5[1], 3[2]

Ratio Explanation:

The ratio reflects the relative activity of enzymes AKR1C4 and SULT2A1 in steroid metabolism, specifically the conversion and sulfation of pregnane derivatives.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

AKR1C4 and SULT2A1 are genetically associated with cholelithiasis.6[1], 7[2], 8[3] Altered activity of these enzymes, reflected by the metabolite ratio, may disrupt bile acid and cholesterol homeostasis, increasing the risk of gallstones.6[4], 9[5], 10[6]

Phenotype Driver:

Gene-centric:AKR1C4/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