sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)* to sphingomyelin (d18:0/20:0, d16:0/22:0)*

Numerator Metabolite

Metabolite Accession: GCST90200053
Name: sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200123
Name: sphingomyelin (d18:0/20:0, d16:0/22:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs4902243

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):
0.379
Position:
64234243
SE (Ratio):
0.021
Effect Allele:
G
Z-score (Ratio):
18.211
Reference Allele:
A
-log10(P):
-168.944
MAF:
0.165
Beta (Num):
0.310
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.070
SE (Den):
0.020
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism.5[1]

Ratio Explanation:

The ratio reflects the balance between different species of sphingomyelins, which can influence membrane fluidity and signaling pathways involved in lipoprotein metabolism.6[1], 7[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered ESR2 expression may influence sphingolipid composition, affecting lipoprotein metabolism. This is consistent with the observed association with disorders of lipoprotein metabolism, triglycerides, and HbA1c levels.3[1], 2[2], 8[3], 9[4]

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