sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to sphingomyelin (d18:1/14:0, d16:1/16:0)*

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:1/14:0, d16:1/16:0)*
Metabolite Accession: GCST90199945
Name: sphingomyelin (d18:1/14:0, d16:1/16:0)*
Hmdb Id: HMDB0012097
Super Pathway: NA
Sub Pathway: NA
Inchikey: KYICBZWZQPCUMO

Associated Genomic Regions

Region: rs174560

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:
11
Beta (Ratio):
-0.120
Position:
61581764
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
-9.124
Reference Allele:
T
-log10(P):
-44.076
MAF:
0.308
Beta (Num):
-0.084
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.036
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingomyelin biosynthesis

Denominator Metabolite Explanation:

Sphingomyelin biosynthesis

Ratio Explanation:

The ratio reflects the balance of sphingomyelin species with different fatty acyl chains, potentially influenced by FADS1's role in providing polyunsaturated fatty acids for lipid synthesis.1[1], 3[2], 4[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered FADS1 activity, influenced by genetic factors, likely shifts the composition of fatty acids available for sphingomyelin synthesis, impacting membrane properties and signaling, which contributes to phenotypes like dyslipidemia and inflammatory conditions such as asthma and dermatitis.5[1], 6[2], 7[3], 8[4]

Phenotype Driver:

Gene-centric:FADS1

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