5alpha-androstan-3beta,17beta-diol monosulfate (2) to 16a-hydroxy dhea 3-sulfate

Numerator Metabolite

Metabolite Accession: GCST90199855
Name: 5alpha-androstan-3beta,17beta-diol monosulfate (2)
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):
-2.135
Position:
99075038
SE (Ratio):
0.062
Effect Allele:
C
Z-score (Ratio):
-34.702
Reference Allele:
T
-log10(P):
-605.891
MAF:
0.021
Beta (Num):
-1.091
Novel Locus:
No
SE (Num):
0.053
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):
-1.002
Position:
100197642
SE (Ratio):
0.086
Effect Allele:
A
Z-score (Ratio):
-11.644
Reference Allele:
G
-log10(P):
-70.484
MAF:
0.012
Beta (Num):
-0.511
Novel Locus:
No
SE (Num):
0.070
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 metabolism, Steroid metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Androgen and estrogen metabolism.7[1], 8[2]

Ratio Explanation:

This ratio reflects a balance between two sulfated androgen metabolites.5[1], 9[2] Genetic links to PCOLCE, a collagen processing enhancer, suggest potential crosstalk between extracellular matrix regulation and steroidogenesis.1[3], 2[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants affecting PCOLCE are linked to this steroid ratio and phenotypes like height, BMI, and inflammatory markers.2[1], 10[2] PCOLCE's role in collagen synthesis relates to height, while androgens, whose balance is reflected in the ratio, influence BMI, WBC, and CRP levels.3[3], 11[4], 12[5]

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