sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to myristoyl dihydrosphingomyelin (d18:0/14:0)*

Numerator Metabolite

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of myristoyl dihydrosphingomyelin (d18:0/14:0)*
Metabolite Accession: GCST90200049
Name: myristoyl dihydrosphingomyelin (d18:0/14:0)*
Hmdb Id: HMDB0012085
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJAFYELZQYPMQG

Associated Genomic Regions

Region: rs174535

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):
0.133
Position:
61551356
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
8.576
Reference Allele:
T
-log10(P):
-39.158
MAF:
0.345
Beta (Num):
0.077
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
-0.056
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.6[1], 3[2], 7[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.8[1], 6[2], 9[3]

Ratio Explanation:

The ratio reflects the conversion of saturated/monounsaturated sphingomyelin to polyunsaturated sphingomyelin, a process influenced by FADS1/FADS2 activity which desaturates fatty acid chains.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced FADS1/FADS2 desaturase activity, indicated by the eQTL, likely alters cell membrane composition and signaling, contributing to phenotypes like hypercholesterolemia and cholelithiasis.10[1], 11[2], 12[3], 13[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