pregnenediol disulfate (c21h34o8s2)* to androstenediol (3beta,17beta) disulfate (1)

Numerator Metabolite

Metabolite Accession: GCST90199840
Name: pregnenediol disulfate (c21h34o8s2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

Associated Genomic Regions

Region: rs11191421

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.098
Position:
104623053
SE (Ratio):
0.012
Effect Allele:
G
Z-score (Ratio):
8.457
Reference Allele:
C
-log10(P):
-38.137
MAF:
0.245
Beta (Num):
0.029
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.069
SE (Den):
0.016
No CNV overlap
rQTL cluster:
66
Reaction Distance:
NA
Closest Genes:
C10orf32-ASMT C10orf32 AS3MT CYP17A1 WBP1L

Region: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
0.314
Position:
99075038
SE (Ratio):
0.028
Effect Allele:
C
Z-score (Ratio):
11.413
Reference Allele:
T
-log10(P):
-67.792
MAF:
0.035
Beta (Num):
-0.002
Novel Locus:
No
SE (Num):
0.037
Beta (Den):
-0.316
SE (Den):
0.038
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
ZNF789 ZNF394 ATP5J2 ATP5J2-PTCD1 PTCD1

LLM Analysis

Numerator Metabolite Explanation:

Steroid biosynthesis4[1], 5[2]

Denominator Metabolite Explanation:

Steroid biosynthesis4[1], 5[2]

Ratio Explanation:

The ratio of pregnenediol disulfate to androstenediol disulfate reflects the activity of CYP17A1, a key enzyme in converting pregnane derivatives to androstane derivatives.6[1], 7[2], 8[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

A lower CYP17A1 activity, indicated by a higher ratio, leads to altered steroid profiles which are associated with inflammatory markers like C-reactive protein, and may influence anthropometric traits such as height and BMI through complex hormonal regulation.9[1], 8[2], 10[3]

Phenotype Driver:

Gene-centric:CYP17A1

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