21-hydroxypregnenolone disulfate to DHEAS

Numerator Metabolite

Structure of 21-hydroxypregnenolone disulfate
Metabolite Accession: GCST90199849
Name: 21-hydroxypregnenolone disulfate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBOVWLYQUCVTFA

Denominator Metabolite

Structure of dehydroepiandrosterone sulfate (dhea-s)
Metabolite Accession: GCST90199673
Name: dehydroepiandrosterone sulfate (dhea-s)
Hmdb Id: HMDB0001032
Super Pathway: NA
Sub Pathway: NA
Inchikey: CZWCKYRVOZZJNM

Associated Genomic Regions

Region: rs141032338

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.192
Position:
47386549
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
-11.241
Reference Allele:
G
-log10(P):
-65.829
MAF:
0.125
Beta (Num):
-0.193
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
-7.35e-04
SE (Den):
0.021
No CNV overlap
rQTL cluster:
163
Reaction Distance:
NA
Closest Genes:
CYP4A11 CYP4X1 CYP4B1 CYP4Z1 EFCAB14

Region: rs55660717

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.197
Position:
101665537
SE (Ratio):
0.025
Effect Allele:
A
Z-score (Ratio):
-7.884
Reference Allele:
G
-log10(P):
-33.386
MAF:
0.054
Beta (Num):
-0.157
Novel Locus:
Yes ✔️
SE (Num):
0.032
Beta (Den):
0.040
SE (Den):
0.030
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
DNMBP ABCC2 CPN1 CUTC COX15

Region: rs2762353

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.144
Position:
25794431
SE (Ratio):
0.011
Effect Allele:
A
Z-score (Ratio):
12.778
Reference Allele:
G
-log10(P):
-84.421
MAF:
0.445
Beta (Num):
0.161
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.017
SE (Den):
0.014
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A4 SLC17A3 HIST1H2BA HIST1H2AA

Region: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
0.504
Position:
99075038
SE (Ratio):
0.031
Effect Allele:
C
Z-score (Ratio):
16.453
Reference Allele:
T
-log10(P):
-138.380
MAF:
0.034
Beta (Num):
0.081
Novel Locus:
No
SE (Num):
0.040
Beta (Den):
-0.423
SE (Den):
0.037
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
ZNF789 ZNF394 ATP5J2 ATP5J2-PTCD1 PTCD1

LLM Analysis

Numerator Metabolite Explanation:

Corticosteroid biosynthesis6[1], 7[2]

Denominator Metabolite Explanation:

Steroidogenesis, Adrenal androgen biosynthesis8[1], 9[2], 10[3]

Ratio Explanation:

The ratio may reflect altered steroid metabolism and transport, where genetic variations in the ABCC2 transporter influence the cellular efflux of sulfated steroid intermediates.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The ABCC2 gene, encoding a transporter for steroid sulfates, is associated with variations in this metabolite ratio. This altered transport may contribute to phenotypes related to liver function (ALT, AST, GGT) and hematological parameters, as ABCC2 is crucial for hepatic detoxification.3[1], 11[2], 12[3]

Phenotype Driver:

Gene-centric:ABCC2

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