thyroxine to sphingomyelin (d18:2/21:0, d16:2/23:0)*

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: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1169296

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

Clumped rQTL variant

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SNP Summary

Chr:
12
Beta (Ratio):
0.157
Position:
121428407
SE (Ratio):
0.020
Effect Allele:
G
Z-score (Ratio):
7.855
Reference Allele:
A
-log10(P):
-33.156
MAF:
0.328
Beta (Num):
0.087
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.070
SE (Den):
0.014
No CNV overlap
rQTL cluster:
49
Reaction Distance:
NA
Closest Genes:
HNF1A C12orf43 AC079602.1 OASL SPPL3

LLM Analysis

Numerator Metabolite Explanation:

Thyroid hormone synthesis pathway.11[1], 12[2], 13[3], 14[4]

Denominator Metabolite Explanation:

Sphingolipid metabolism.15[1], 16[2], 17[3], 18[4], 19[5]

Ratio Explanation:

The ratio may reflect HNF1A's regulatory role in both lipid and endocrine pathways, although a direct regulatory link between HNF1A and thyroxine synthesis is not established.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

HNF1A mutations are known to alter lipid metabolism, including cholesterol and sphingomyelin levels, and are associated with cholelithiasis and dyslipidemia (altered LDL-C, HDL-C, TC).9[1], 20[2], 21[3], 22[4], 23[5], 24[6], 25[7] The link to C-reactive protein is also well-established.26[8], 27[9], 28[10], 29[11], 30[12], 21[13]

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