androstenediol (3beta,17beta) monosulfate (1) to 16a-hydroxy dhea 3-sulfate

Numerator Metabolite

Structure of androstenediol (3beta,17beta) monosulfate (1)
Metabolite Accession: GCST90199872
Name: androstenediol (3beta,17beta) monosulfate (1)
Hmdb Id: HMDB0240429
Super Pathway: NA
Sub Pathway: NA
Inchikey: KMTOEENORMWLCF

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: rs112152869

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.243
Position:
96784589
SE (Ratio):
0.024
Effect Allele:
C
Z-score (Ratio):
-10.003
Reference Allele:
A
-log10(P):
-52.570
MAF:
0.119
Beta (Num):
-0.081
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.162
SE (Den):
0.023
No CNV overlap
rQTL cluster:
70
Reaction Distance:
NA
Closest Genes:
CYP2C8 CYP2C9 C10orf129 CYP2C19 PDLIM1

Region: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
-1.426
Position:
99075038
SE (Ratio):
0.042
Effect Allele:
C
Z-score (Ratio):
-34.074
Reference Allele:
T
-log10(P):
-584.280
MAF:
0.034
Beta (Num):
-0.382
Novel Locus:
No
SE (Num):
0.037
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):
-0.749
Position:
100197642
SE (Ratio):
0.063
Effect Allele:
A
Z-score (Ratio):
-11.853
Reference Allele:
G
-log10(P):
-72.951
MAF:
0.015
Beta (Num):
-0.258
Novel Locus:
No
SE (Num):
0.055
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.6[1], 7[2]

Denominator Metabolite Explanation:

Androgen and estrogen metabolism, steroidogenesis.8[1], 9[2], 10[3], 11[4]

Ratio Explanation:

This ratio reflects two branches of DHEA metabolism; CYP2C8 has 16-alpha hydroxylase activity, potentially influencing the denominator, thus the ratio represents differential pathway flux.4[1], 8[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in CYP2C8, which metabolizes steroids and inflammatory mediators, could alter the balance of these pathways, influencing systemic inflammation (CRP, WBC) and consequently affecting BMI and height.3[1], 4[2], 12[3], 13[4]

Phenotype Driver:

Gene-centric:CYP2C8

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