21-hydroxypregnenolone disulfate to 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)

Numerator Metabolite

Structure of 21-hydroxypregnenolone disulfate
Metabolite Accession: GCST90199849
Name: 21-hydroxypregnenolone disulfate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBOVWLYQUCVTFA

Denominator Metabolite

Metabolite Accession: GCST90199854
Name: 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs113354025

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.245
Position:
101625549
SE (Ratio):
0.032
Effect Allele:
T
Z-score (Ratio):
-7.573
Reference Allele:
C
-log10(P):
-30.940
MAF:
0.059
Beta (Num):
-0.123
Novel Locus:
Yes ✔️
SE (Num):
0.031
Beta (Den):
0.122
SE (Den):
0.033
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
DNMBP ABCC2 CUTC COX15 ENTPD7

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.322
Position:
48374950
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
-15.647
Reference Allele:
C
-log10(P):
-125.400
MAF:
0.161
Beta (Num):
-0.159
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.163
SE (Den):
0.021
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroid hormone biosynthesis.7[1], 8[2]

Denominator Metabolite Explanation:

Steroid hormone biosynthesis, sulfation.

Ratio Explanation:

The ratio reflects the relative activity of steroid sulfation pathways. SULT2A1 sulfates various steroids, and its activity influences the balance of sulfated steroid hormone metabolites.3[1], 6[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in SULT2A1 is associated with cholelithiasis.9[1], 10[2], 11[3] Altered SULT2A1-mediated sulfation of steroids and bile acids can disrupt their homeostasis and contribute to gallstone formation, a phenotype also linked to elevated liver enzymes.12[4], 10[5]

Phenotype Driver:

Gene-centric:SULT2A1

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