stearoyl sphingomyelin (d18:1/18:0) to thyroxine

Numerator Metabolite

Structure of stearoyl sphingomyelin (d18:1/18:0)
Metabolite Accession: GCST90200335
Name: stearoyl sphingomyelin (d18:1/18:0)
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

Denominator Metabolite

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

Associated Genomic Regions

Region: rs1169306

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):
-0.165
Position:
121438311
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
-7.880
Reference Allele:
C
-log10(P):
-33.351
MAF:
0.355
Beta (Num):
-0.080
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.086
SE (Den):
0.016
No CNV overlap
rQTL cluster:
49
Reaction Distance:
NA
Closest Genes:
HNF1A C12orf43 OASL AC079602.1 SPPL3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis, ceramide metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Thyroid hormone synthesis.7[1], 8[2], 9[3], 10[4]

Ratio Explanation:

none

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired HNF1A function due to genetic variants disrupts its regulation of lipid metabolism, including sphingomyelins, and glucose homeostasis.11[1], 12[2], 13[3], 14[4], 15[5] This dysregulation, potentially interacting with thyroid function, contributes to an increased risk for type 2 diabetes, dyslipidemia, cholelithiasis, and cardiovascular diseases like myocardial infarction.3[6], 16[7], 17[8], 14[9], 18[10]

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