pregnenolone sulfate to androstenediol (3beta,17beta) disulfate (2)
Numerator Metabolite
Metabolite Accession: GCST90199873
Name: pregnenolone sulfate
Hmdb Id: HMDB0000774
Super Pathway: NA
Sub Pathway: NA
Inchikey: DIJBBUIOWGGQOP
Denominator Metabolite
Metabolite Accession: GCST90199851
Name: androstenediol (3beta,17beta) disulfate (2)
Hmdb Id: HMDB0240313
Super Pathway: NA
Sub Pathway: NA
Inchikey: UWPTUYJASNIIJM
Associated Genomic Regions
Region: rs7475281
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Clumped rQTL variant
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SNP Summary
Chr:
10
Beta (Ratio):
0.221
Position:
5252902
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
11.703
Reference Allele:
A
-log10(P):
-71.178
MAF:
0.151
Beta (Num):
0.093
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.128
SE (Den):
0.019
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Region: rs4881413
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Clumped rQTL variant
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SNP Summary
Chr:
10
Beta (Ratio):
0.220
Position:
5258450
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
11.657
Reference Allele:
G
-log10(P):
-70.629
MAF:
0.152
Beta (Num):
0.093
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.127
SE (Den):
0.019
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Region: rs2151901
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Clumped rQTL variant
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SNP Summary
Chr:
10
Beta (Ratio):
0.220
Position:
5262965
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
11.665
Reference Allele:
A
-log10(P):
-70.728
MAF:
0.152
Beta (Num):
0.094
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.126
SE (Den):
0.019
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Missense Variants in LD (with rs2151901)
eQTL Colocalization
pQTL Colocalization
| Exposure Protein | P(alpha) | P(IVW) | Coloc H4 | Coloc (SuSiE) | Plot |
|---|---|---|---|---|---|
| SMPD3 | 0.006 | 9.53e-30 | 0.991 | NA |
GTEx eQTL Colocalization
| Tissue | Exposure Gene | P(alpha) | P(IVW) | Coloc H4 | Coloc (SuSiE) | Plot |
|---|---|---|---|---|---|---|
| Heart Left Ventricle | NFATC3 | 1.10e-05 | 5.43e-21 | 0.985 | 0.969 | |
| Whole Blood | SLC7A6 | 1.54e-05 | 1.18e-13 | 0.290 | 1.000 | |
| Thyroid | PLA2G15 | 3.73e-05 | 1.89e-25 | 0.992 | 0.999 | |
| Esophagus Mucosa | PLA2G15 | 5.01e-05 | 1.89e-25 | 0.990 | 0.976 | |
| Small Intestine Terminal Ileum | NFATC3 | 5.20e-05 | NA | 0.942 | NA | |
| Esophagus Gastroesophageal Junction | PRMT7 | 6.32e-05 | 5.23e-14 | 6.04e-14 | 1.000 | |
| Artery Tibial | PRMT7 | 6.59e-05 | 1.18e-13 | 4.51e-14 | 1.000 | |
| Artery Tibial | PLA2G15 | 6.77e-05 | 1.89e-25 | 0.932 | 0.860 | |
| Esophagus Gastroesophageal Junction | NFATC3 | 1.14e-04 | 4.32e-15 | 0.005 | 1.000 | |
| Nerve Tibial | PLA2G15 | 1.31e-04 | 5.80e-30 | 0.997 | 0.994 | |
| Esophagus Muscularis | PLA2G15 | 1.36e-04 | 3.97e-23 | 0.989 | 0.978 | |
| Esophagus Muscularis | PRMT7 | 1.38e-04 | 1.37e-13 | 2.77e-14 | 1.000 | |
| Breast Mammary Tissue | PLA2G15 | 1.98e-04 | NA | 0.984 | 0.968 | |
| Brain Cortex | SMPD3 | 2.26e-04 | NA | 0.802 | NA | |
| Brain Nucleus Accumbens Basal Ganglia | NFATC3 | 2.47e-04 | NA | 0.944 | NA | |
| Colon Sigmoid | PRMT7 | 3.20e-04 | 1.37e-13 | 3.80e-14 | 1.000 | |
| Adrenal Gland | PLA2G15 | 3.28e-04 | NA | 0.991 | 0.987 | |
| Thyroid | SLC7A6 | 3.88e-04 | 1.23e-17 | 3.06e-10 | 1.000 | |
| Spleen | NFATC3 | 3.91e-04 | 6.32e-09 | 0.912 | 1.000 | |
| Heart Atrial Appendage | NFATC3 | 4.72e-04 | NA | 0.901 | NA | |
| Pituitary | NFATC3 | 4.76e-04 | 1.31e-11 | 0.705 | 0.997 | |
| Spleen | SMPD3 | 4.90e-04 | NA | 0.811 | NA | |
| Thyroid | PRMT7 | 5.29e-04 | 0.057 | 3.79e-14 | 1.000 | |
| Colon Sigmoid | NFATC3 | 5.70e-04 | 3.88e-15 | 2.62e-07 | 1.000 | |
| Nerve Tibial | NFATC3 | 6.00e-04 | 9.55e-10 | 2.10e-08 | 1.000 | |
| Colon Transverse | SLC7A6 | 6.15e-04 | 1.12e-14 | 0.897 | 1.000 | |
| Nerve Tibial | PRMT7 | 8.58e-04 | 7.58e-08 | 1.61e-14 | 1.000 | |
| Colon Transverse | NFATC3 | 8.75e-04 | 1.89e-25 | 0.961 | 1.000 | |
| Adipose Visceral Omentum | PLA2G15 | 9.65e-04 | NA | 0.992 | 0.986 | |
| Esophagus Mucosa | NFATC3 | 0.001 | 6.17e-10 | 0.840 | NA | |
| Brain Nucleus Accumbens Basal Ganglia | PRMT7 | 0.001 | 2.20e-13 | 2.61e-05 | 1.000 | |
| Adipose Subcutaneous | PLA2G15 | 0.001 | NA | 0.948 | NA | |
| Artery Coronary | PLA2G15 | 0.002 | NA | 0.890 | NA | |
| Thyroid | SLC7A6OS | 0.002 | NA | 0.886 | NA | |
| Esophagus Muscularis | NFATC3 | 0.002 | 9.55e-10 | 0.007 | 1.000 | |
| Artery Coronary | PRMT7 | 0.002 | 7.58e-08 | 3.39e-09 | 1.000 | |
| Whole Blood | NFATC3 | 0.003 | 5.43e-21 | 0.297 | 0.999 | |
| Brain Caudate Basal Ganglia | NFATC3 | 0.003 | NA | 0.835 | NA | |
| Heart Left Ventricle | PLA2G15 | 0.003 | NA | 0.872 | NA | |
| Pancreas | PRMT7 | 0.003 | 1.12e-14 | 5.19e-13 | 1.000 | |
| Nerve Tibial | SLC7A6 | 0.003 | 6.23e-11 | 0.950 | 0.996 | |
| Adipose Visceral Omentum | NFATC3 | 0.003 | 9.55e-10 | 0.314 | 0.993 | |
| Colon Transverse | PRMT7 | 0.003 | 1.37e-13 | 3.79e-14 | 1.000 | |
| Stomach | PRMT7 | 0.003 | 1.37e-13 | 6.77e-14 | 1.000 | |
| Skin Not Sun Exposed Suprapubic | PRMT7 | 0.003 | 5.23e-14 | 5.52e-14 | 1.000 | |
| Esophagus Mucosa | PRMT7 | 0.003 | 6.79e-13 | 2.02e-14 | 1.000 | |
| Adipose Subcutaneous | PRMT7 | 0.003 | 7.58e-08 | 1.89e-14 | 1.000 | |
| Lung | SLC7A6 | 0.003 | 3.88e-15 | 6.55e-04 | 1.000 | |
| Pancreas | NFATC3 | 0.004 | NA | 0.969 | 0.954 | |
| Breast Mammary Tissue | NFATC3 | 0.004 | 2.20e-13 | 0.927 | 0.998 | |
| Muscle Skeletal | SLC7A6 | 0.005 | NA | 0.976 | NA | |
| Spleen | PRMT7 | 0.005 | 1.37e-13 | 2.19e-11 | 1.000 | |
| Brain Cortex | PRMT7 | 0.006 | 7.58e-08 | 9.27e-08 | 1.000 | |
| Breast Mammary Tissue | PRMT7 | 0.006 | 5.23e-14 | 2.26e-11 | 1.000 | |
| Lung | NFATC3 | 0.006 | 1.31e-11 | 0.002 | 1.000 | |
| Heart Atrial Appendage | PLA2G15 | 0.007 | NA | 0.955 | NA | |
| Skin Sun Exposed Lower Leg | PRMT7 | 0.007 | 5.23e-14 | 9.53e-14 | 1.000 | |
| Lung | PRMT7 | 0.008 | 0.749 | 7.88e-17 | 1.000 | |
| Brain Cerebellum | NFATC3 | 0.008 | 5.43e-21 | 0.984 | 0.977 | |
| Skin Not Sun Exposed Suprapubic | NFATC3 | 0.008 | 6.17e-10 | 0.009 | 1.000 | |
| Liver | PRMT7 | 0.009 | 1.37e-13 | 1.77e-09 | 1.000 | |
| Skin Sun Exposed Lower Leg | PLA2G15 | 0.013 | 7.27e-12 | 5.24e-05 | 1.000 | |
| Thyroid | NFATC3 | 0.015 | 6.32e-09 | 4.81e-09 | 1.000 | |
| Adipose Visceral Omentum | PRMT7 | 0.015 | 1.37e-13 | 5.01e-14 | 1.000 | |
| Artery Aorta | PRMT7 | 0.016 | 7.58e-08 | 1.15e-17 | 1.000 | |
| Pituitary | PRMT7 | 0.018 | 1.12e-14 | 8.78e-07 | 1.000 | |
| Adipose Subcutaneous | NFATC3 | 0.019 | 9.55e-10 | 2.47e-05 | 1.000 | |
| Skin Sun Exposed Lower Leg | NFATC3 | 0.019 | 6.32e-09 | 0.990 | 0.172 | |
| Brain Caudate Basal Ganglia | PRMT7 | 0.031 | 2.31e-14 | 4.24e-06 | 1.000 | |
| Testis | PLA2G15 | 0.040 | 1.18e-13 | 0.004 | 0.998 | |
| Artery Tibial | NFATC3 | 0.044 | 0.359 | 1.01e-15 | 1.000 | |
| Whole Blood | PRMT7 | 0.045 | 0.670 | 1.27e-13 | 1.000 | |
| Small Intestine Terminal Ileum | PRMT7 | 0.051 | 1.37e-13 | 2.58e-07 | 1.000 | |
| Vagina | PRMT7 | 0.052 | 2.20e-13 | 0.015 | 1.000 | |
| Brain Cerebellum | PRMT7 | 0.057 | 0.262 | 1.13e-05 | 0.996 | |
| Prostate | PRMT7 | 0.058 | 5.23e-14 | 4.47e-09 | 1.000 | |
| Artery Aorta | NFATC3 | 0.070 | 0.308 | 6.89e-08 | 0.999 | |
| Muscle Skeletal | PRMT7 | 0.078 | 6.81e-15 | 2.20e-12 | 1.000 | |
| Brain Cerebellar Hemisphere | PRMT7 | 0.165 | 0.255 | 8.71e-06 | 0.998 | |
| Brain Frontal Cortex Ba9 | PRMT7 | 0.210 | 0.316 | 1.95e-04 | 0.999 | |
| Whole Blood | DUS2 | 0.327 | 0.316 | 9.89e-24 | 1.000 |
LLM Analysis
Numerator Metabolite Explanation:
Steroidogenesis
Denominator Metabolite Explanation:
Steroidogenesis, Androgen and Estrogen Metabolism.7[1]
Ratio Explanation:
The ratio of pregnenolone sulfate to androstenediol disulfate reflects steroidogenic pathway activity, where higher values may indicate reduced conversion of upstream precursors to downstream androgens.
Ratio Evidence:
reaction where the ratio is shared through a pathway
Gene Ratio Phenotype Relationship:
Altered AKR1C4 activity affects steroid hormone metabolism, reflected by the ratio, and its primary role in hepatic bile acid synthesis influences liver function (GGT, ALP, TBil) and systemic metabolic traits like body weight, triglycerides, and cholesterol.8[1], 9[2], 5[3]
Phenotype Driver:
Gene-centric:AKR1C4
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