sphingomyelin (d18:2/24:1, d18:1/24:2)* to 1-linoleoyl-2-linolenoyl-gpc (18:2/18:3)*

Numerator Metabolite

Metabolite Accession: GCST90200040
Name: sphingomyelin (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-linoleoyl-2-linolenoyl-gpc (18:2/18:3)*
Metabolite Accession: GCST90200095
Name: 1-linoleoyl-2-linolenoyl-gpc (18:2/18:3)*
Hmdb Id: HMDB0008141
Super Pathway: NA
Sub Pathway: NA
Inchikey: HZGAVPNEGHQJID

Associated Genomic Regions

Region: rs102275

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):
-0.311
Position:
61557803
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-16.139
Reference Allele:
T
-log10(P):
-133.244
MAF:
0.346
Beta (Num):
-0.080
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.232
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.4[1]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, PUFA biosynthesis.5[1], 6[2]

Ratio Explanation:

Reflects FADS enzyme activity, which influences the balance of polyunsaturated fatty acids partitioned between sphingomyelin and glycerophospholipid synthesis.1[1], 5[2], 7[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid metabolism, which can dysregulate inflammatory signaling and lipid profiles, contributing to inflammatory conditions like asthma and IBD and cardiometabolic diseases such as hypercholesterolemia and cholelithiasis.8[1], 9[2], 10[3], 11[4], 12[5], 13[6], 14[7]

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