5alpha-androstan-3beta,17beta-diol disulfate to 16a-hydroxy dhea 3-sulfate

Numerator Metabolite

Metabolite Accession: GCST90199835
Name: 5alpha-androstan-3beta,17beta-diol disulfate
Hmdb Id: HMDB00493
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
-1.716
Position:
99075038
SE (Ratio):
0.049
Effect Allele:
C
Z-score (Ratio):
-35.008
Reference Allele:
T
-log10(P):
-616.565
MAF:
0.033
Beta (Num):
-0.672
Novel Locus:
No
SE (Num):
0.036
Beta (Den):
1.044
SE (Den):
0.039
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
ZNF789 ZNF394 ATP5J2 ATP5J2-PTCD1 PTCD1

Region: rs34048349

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
-0.866
Position:
100197642
SE (Ratio):
0.074
Effect Allele:
A
Z-score (Ratio):
-11.707
Reference Allele:
G
-log10(P):
-71.221
MAF:
0.015
Beta (Num):
-0.375
Novel Locus:
No
SE (Num):
0.053
Beta (Den):
0.491
SE (Den):
0.059
No CNV overlap
rQTL cluster:
89
Reaction Distance:
NA
Closest Genes:
FBXO24 PCOLCE MOSPD3 LRCH4 TFR2

LLM Analysis

Numerator Metabolite Explanation:

Androgen and estrogen metabolism.5[1]

Denominator Metabolite Explanation:

Androgen and estrogen metabolism.6[1], 7[2]

Ratio Explanation:

The ratio reflects relative androgen metabolism, comparing a downstream DHT metabolite (numerator) to a hydroxylated DHEA precursor metabolite (denominator), indicating shifts in steroid processing.8[1], 7[2], 5[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

PCOLCE influences extracellular matrix, affecting height and body mass index.9[1], 2[2] Altered PCOLCE expression may modulate steroid metabolism, as reflected by the ratio, which is associated with inflammatory markers (C-reactive protein, white blood cell count) and metabolic parameters (uric acid, BMI).10[3]

Phenotype Driver:

Gene-centric:PCOLCE

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