sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)* to 1-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

Denominator Metabolite

Structure of 1-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*
Metabolite Accession: GCST90200075
Name: 1-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*
Hmdb Id: HMDB0011343
Super Pathway: NA
Sub Pathway: NA
Inchikey: LJVXDBWIBQQKFU

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):
-0.272
Position:
61557803
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
-13.534
Reference Allele:
T
-log10(P):
-94.415
MAF:
0.346
Beta (Num):
-0.106
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.165
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], 5[2], 6[3]

Denominator Metabolite Explanation:

Plasmalogen synthesis, Ether lipid metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

This ratio reflects the balance between sphingolipid and plasmalogen synthesis, which is influenced by FADS1/FADS2 activity regulating the availability of fatty acid precursors.1[1], 10[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in the FADS gene cluster alter FADS1/FADS2 enzyme activity, which impacts the balance of polyunsaturated fatty acids.11[1], 12[2], 13[3] This dysregulation affects complex lipid synthesis, contributing to phenotypes like dyslipidemia, inflammatory bowel disease, and type 2 diabetes.1[4], 14[5], 15[6]

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