sphingomyelin (d18:2/14:0, d18:1/14:1)* to sphingomyelin (d17:2/16:0, d18:2/15:0)*

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200125
Name: sphingomyelin (d17:2/16:0, d18:2/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs17101394

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:
14
Beta (Ratio):
-0.163
Position:
64232386
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
-13.765
Reference Allele:
G
-log10(P):
-97.593
MAF:
0.164
Beta (Num):
0.046
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.209
SE (Den):
0.018
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2], 5[3]

Ratio Explanation:

The ratio reflects the relative abundance of different sphingomyelin species. ESR2 is not a direct metabolic enzyme but a nuclear receptor that likely regulates this balance.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in ESR2, an estrogen receptor, is associated with the sphingomyelin ratio and phenotypes of altered triglycerides and HbA1c.6[1], 7[2], 8[3] ESR2's regulatory role in metabolism likely drives these associations.

Phenotype Driver:

Gene-centric:ESR2

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