thyroxine to sphingomyelin (d18:1/18:1, d18:2/18:0)

Numerator Metabolite

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

Denominator Metabolite

Structure of sphingomyelin (d18:1/18:1, d18:2/18:0)
Metabolite Accession: GCST90199878
Name: sphingomyelin (d18:1/18:1, d18:2/18:0)
Hmdb Id: HMDB0012101
Super Pathway: NA
Sub Pathway: NA
Inchikey: NBEADXWAAWCCDG

Associated Genomic Regions

Region: rs1169306

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
12
Beta (Ratio):
0.170
Position:
121438311
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
8.302
Reference Allele:
C
-log10(P):
-36.821
MAF:
0.355
Beta (Num):
0.086
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.084
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 synthesis and metabolism.8[1], 9[2], 10[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.11[1], 12[2], 13[3]

Ratio Explanation:

HNF1A regulates thyroxine-binding globulin, and its dysfunction, linked to dyslipidemia, could alter both thyroid hormone transport and sphingolipid levels, reflecting metabolic disruption.6[1], 14[2], 15[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

HNF1A gene variants are associated with increased risk for Type 2 diabetes, dyslipidemia, and myocardial infarction.7[1], 16[2], 17[3] Altered HNF1A function disrupts broad metabolic regulation, including lipid and glucose pathways, leading to phenotypes like hypercholesterolemia and cholelithiasis.6[4], 18[5]

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