sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*

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

Metabolite Accession: GCST90199995
Name: sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174547

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.258
Position:
61570783
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
-16.736
Reference Allele:
T
-log10(P):
-143.100
MAF:
0.339
Beta (Num):
-0.072
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
0.186
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

Region: rs1466448

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:
19
Beta (Ratio):
0.160
Position:
8289519
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
8.624
Reference Allele:
A
-log10(P):
-39.578
MAF:
0.192
Beta (Num):
0.061
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
-0.099
SE (Den):
0.018
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingomyelin synthesis

Denominator Metabolite Explanation:

Sphingomyelin synthesis

Ratio Explanation:

This ratio reflects FADS1/FADS2 activity, comparing sphingomyelins with less saturated fatty acids (numerator) to those with more polyunsaturated fatty acids (denominator), products of desaturation.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1/FADS2 variants alter enzyme activity, impacting polyunsaturated fatty acid levels. This dysregulates lipid metabolism and inflammatory pathways, contributing to phenotypes like hypercholesterolemia, cholelithiasis, and type 2 diabetes.3[1], 4[2], 2[3], 5[4]

Phenotype Driver:

Gene-centric:FADS1/FADS2

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