21-hydroxypregnenolone disulfate to 16a-hydroxy dhea 3-sulfate

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 16a-hydroxy dhea 3-sulfate
Metabolite Accession: GCST90199863
Name: 16a-hydroxy dhea 3-sulfate
Hmdb Id: HMDB0062544
Super Pathway: NA
Sub Pathway: NA
Inchikey: ALBNSVAJDFJRKQ

Associated Genomic Regions

Region: rs12132488

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.229
Position:
47389613
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
-11.253
Reference Allele:
C
-log10(P):
-65.968
MAF:
0.128
Beta (Num):
-0.189
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
0.040
SE (Den):
0.022
No CNV overlap
rQTL cluster:
163
Reaction Distance:
NA
Closest Genes:
CYP4A11 CYP4X1 CYP4B1 CYP4Z1 EFCAB14

Region: rs11593816

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.198
Position:
96847525
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
-9.330
Reference Allele:
G
-log10(P):
-45.994
MAF:
0.116
Beta (Num):
-0.034
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
0.164
SE (Den):
0.023
No CNV overlap
rQTL cluster:
70
Reaction Distance:
NA
Closest Genes:
CYP2C8 CYP2C9 C10orf129 PDLIM1 SORBS1

LLM Analysis

Numerator Metabolite Explanation:

Steroid hormone biosynthesis.9[1], 10[2], 11[3]

Denominator Metabolite Explanation:

Steroid hormone biosynthesis.12[1], 13[2], 14[3], 15[4], 16[5]

Ratio Explanation:

The ratio reflects balance between mineralocorticoid/progestogen and androgen/estrogen pathways, likely influenced by CYP2C8/CYP4B1 activity on steroid precursors.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CYP2C8/CYP4B1 activity likely shifts steroidogenesis. The resulting imbalance in androgen precursors (denominator) may drive changes in red blood cell production (RBC, Hb, Ht), while changes in mineralocorticoid pathway precursors (numerator) could affect pulse pressure.17[1], 18[2], 19[3], 20[4], 21[5], 22[6]

Phenotype Driver:

Metabolite-centric[both]

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