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

Numerator Metabolite

Metabolite Accession: GCST90199856
Name: androstenediol (3alpha, 17alpha) monosulfate (3)
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: rs117283130

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.375
Position:
96785022
SE (Ratio):
0.029
Effect Allele:
C
Z-score (Ratio):
-12.983
Reference Allele:
T
-log10(P):
-87.076
MAF:
0.119
Beta (Num):
-0.214
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.161
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):
-1.884
Position:
99075038
SE (Ratio):
0.050
Effect Allele:
C
Z-score (Ratio):
-37.933
Reference Allele:
T
-log10(P):
-723.328
MAF:
0.033
Beta (Num):
-0.840
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):
-0.874
Position:
100197642
SE (Ratio):
0.075
Effect Allele:
A
Z-score (Ratio):
-11.603
Reference Allele:
G
-log10(P):
-69.994
MAF:
0.015
Beta (Num):
-0.383
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:

Numerator Pathway(s): Androgen and Estrogen Metabolism.6[1]

Denominator Metabolite Explanation:

Denominator Pathway(s): Androgen and Estrogen Metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

Ratio Interpretation: The ratio likely reflects the activity of CYP-mediated steroid hydroxylation, with `CYP2C8` potentially involved in the 16α-hydroxylation of DHEA-sulfate, altering steroid hormone balance. 4[1], 10[2]

Ratio Evidence:

Ratio Evidence Level: metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Ratio-Phenotype Link: Variation in `CYP2C8` alters steroid metabolism, impacting the androstenediol sulfate to 16a-hydroxy DHEA sulfate ratio. This dysregulation of steroid hormones is linked to phenotypes like Body Mass Index, C-reactive protein, and uric acid levels, which are influenced by androgen and inflammatory pathways. 11[1], 12[2], 13[3], 14[4]

Phenotype Driver:

Primary driver of phenotype link: 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