sphingomyelin (d18:1/14:0, d16:1/16:0)* to sphingomyelin (d17:2/16:0, d18:2/15:0)*

Numerator 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

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: rs28456

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):
0.122
Position:
61589481
SE (Ratio):
0.011
Effect Allele:
G
Z-score (Ratio):
10.881
Reference Allele:
A
-log10(P):
-61.816
MAF:
0.310
Beta (Num):
0.037
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.085
SE (Den):
0.014
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio reflects fatty acid desaturase 1 (FADS1) activity, which alters the balance of various fatty acids that are incorporated into sphingomyelin species.6[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters desaturase activity, affecting sphingomyelin composition and polyunsaturated fatty acid balance.6[1], 7[2] This dysregulation of lipid mediators contributes to inflammatory phenotypes like asthma and metabolic conditions like hypercholesterolemia, aligning with FADS1's known functions.8[3], 9[4], 10[5], 11[6], 12[7]

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