5alpha-androstan-3alpha,17beta-diol monosulfate (1) to 16a-hydroxy dhea 3-sulfate

Numerator Metabolite

Metabolite Accession: GCST90199858
Name: 5alpha-androstan-3alpha,17beta-diol monosulfate (1)
Hmdb Id: NA
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):
-2.384
Position:
99075038
SE (Ratio):
0.060
Effect Allele:
C
Z-score (Ratio):
-39.707
Reference Allele:
T
-log10(P):
-792.250
MAF:
0.023
Beta (Num):
-1.340
Novel Locus:
No
SE (Num):
0.049
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):
-1.093
Position:
100197642
SE (Ratio):
0.087
Effect Allele:
A
Z-score (Ratio):
-12.603
Reference Allele:
G
-log10(P):
-82.186
MAF:
0.013
Beta (Num):
-0.602
Novel Locus:
No
SE (Num):
0.068
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

Denominator Metabolite Explanation:

Androgen and estrogen metabolism7[1]

Ratio Explanation:

The ratio reflects the balance between two downstream metabolites of DHEA, potentially indicating shifts in steroid hormone processing.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

PCOLCE's role in extracellular matrix remodeling may influence tissue environments affecting inflammatory responses and metabolic phenotypes. Elevated PCOLCE is linked to increased BMI and fibrosis, while altered steroid metabolism is associated with inflammatory markers and metabolic health, providing a plausible link between the gene, ratio, and phenotypes.1[1], 8[2], 2[3], 9[4], 4[5], 5[6], 6[7]

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