pregnenediol disulfate (c21h34o8s2)* to pregnenediol sulfate (c21h34o5s)*

Numerator Metabolite

Metabolite Accession: GCST90199840
Name: pregnenediol disulfate (c21h34o8s2)*
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: rs55804858

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.229
Position:
101595065
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
-11.272
Reference Allele:
C
-log10(P):
-66.181
MAF:
0.059
Beta (Num):
-0.195
Novel Locus:
No
SE (Num):
0.029
Beta (Den):
0.034
SE (Den):
0.028
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
ABCC2 DNMBP CUTC COX15 ENTPD7

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.377
Position:
48374950
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
-29.687
Reference Allele:
C
-log10(P):
-444.270
MAF:
0.160
Beta (Num):
-0.509
Novel Locus:
No
SE (Num):
0.018
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 sulfation

Denominator Metabolite Explanation:

Steroid sulfation

Ratio Explanation:

This ratio reflects the conversion of pregnenediol sulfate to pregnenediol disulfate, likely indicating sulfotransferase activity, such as by SULT2A1.3[1], 6[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 or ABCC2 function can impair steroid and bile acid metabolism and excretion.7[1], 8[2] This disruption in bile composition, reflected by the altered pregnenediol sulfate ratio, increases the risk of supersaturation and the formation of gallstones (Cholelithiasis).9[3], 8[4]

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