thyroxine to sphingomyelin (d18:1/20:1, d18:2/20:0)*

Numerator Metabolite

Structure of thyroxine
Metabolite Accession: GCST90200293
Name: thyroxine
Hmdb Id: HMDB0000248
Super Pathway: NA
Sub Pathway: NA
Inchikey: XUIIKFGFIJCVMT

Denominator Metabolite

Metabolite Accession: GCST90199996
Name: sphingomyelin (d18:1/20:1, d18:2/20:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1169306

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Clumped rQTL variant

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SNP Summary

Chr:
12
Beta (Ratio):
0.161
Position:
121438311
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
8.075
Reference Allele:
C
-log10(P):
-34.932
MAF:
0.355
Beta (Num):
0.086
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.075
SE (Den):
0.015
No CNV overlap
rQTL cluster:
49
Reaction Distance:
NA
Closest Genes:
HNF1A C12orf43 OASL AC079602.1 SPPL3

LLM Analysis

Numerator Metabolite Explanation:

Thyroid hormone biosynthesis6[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism7[1], 8[2]

Ratio Explanation:

Hypothyroidism is associated with increased sphingomyelin levels in the liver, a condition normalized by thyroxine administration, suggesting a regulatory relationship.9[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

HNF1A dysfunction is linked to hypercholesterolemia and cholelithiasis.10[1], 11[2], 12[3] Altered HNF1A activity may disrupt lipid homeostasis, including sphingomyelin levels, and thyroid hormone regulation, contributing to the development of gallstones and abnormal cholesterol levels.

Phenotype Driver:

Gene-centric:HNF1A

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