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

Numerator Metabolite

Structure of androstenediol (3beta,17beta) disulfate (1)
Metabolite Accession: GCST90199842
Name: androstenediol (3beta,17beta) disulfate (1)
Hmdb Id: HMDB0240313
Super Pathway: NA
Sub Pathway: NA
Inchikey: UWPTUYJASNIIJM

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: rs56390141

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.264
Position:
96851277
SE (Ratio):
0.024
Effect Allele:
G
Z-score (Ratio):
-10.804
Reference Allele:
A
-log10(P):
-60.977
MAF:
0.115
Beta (Num):
-0.099
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
0.165
SE (Den):
0.023
No CNV overlap
rQTL cluster:
70
Reaction Distance:
NA
Closest Genes:
CYP2C8 CYP2C9 C10orf129 PDLIM1 SORBS1

Region: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
-1.360
Position:
99075038
SE (Ratio):
0.041
Effect Allele:
C
Z-score (Ratio):
-32.835
Reference Allele:
T
-log10(P):
-542.778
MAF:
0.034
Beta (Num):
-0.316
Novel Locus:
No
SE (Num):
0.038
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):
-0.770
Position:
100197642
SE (Ratio):
0.062
Effect Allele:
A
Z-score (Ratio):
-12.354
Reference Allele:
G
-log10(P):
-79.055
MAF:
0.016
Beta (Num):
-0.279
Novel Locus:
No
SE (Num):
0.056
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 metabolism

Ratio Explanation:

The ratio reflects altered steroid metabolism, potentially due to genetic variations in CYP enzymes influencing the balance between androstenediol and 16a-hydroxy DHEA.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The CYP2C8 missense variant likely alters steroid metabolism, impacting the androstenediol to 16a-hydroxy DHEA sulfate ratio. This altered steroid hormone balance may contribute to variations in inflammatory markers (CRP, WBC), BMI, and uric acid levels, which are known to be influenced by androgens.

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