sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to docosapentaenoate (n6 dpa; 22:5n6)

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 docosapentaenoate (n6 dpa; 22:5n6)
Metabolite Accession: GCST90199796
Name: docosapentaenoate (n6 dpa; 22:5n6)
Hmdb Id: HMDB0001976
Super Pathway: NA
Sub Pathway: NA
Inchikey: AVKOENOBFIYBSA

Associated Genomic Regions

Region: rs4246215

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):
0.194
Position:
61564299
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
9.211
Reference Allele:
G
-log10(P):
-44.881
MAF:
0.353
Beta (Num):
0.080
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.115
SE (Den):
0.017
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FEN1 FADS1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.5[1], 6[2], 7[3]

Ratio Explanation:

This ratio reflects FADS1/FADS2 activity, which influences the balance between the synthesis of docosapentaenoate (DPA) and the availability of other fatty acids for incorporation into sphingomyelins.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters desaturase activity, impacting the balance of PUFAs and other fatty acids incorporated into complex lipids.8[1], 9[2] This dysregulation of lipid metabolism contributes to phenotypes like hypercholesterolemia, cholelithiasis, type 2 diabetes, and thrombophlebitis.1[3], 9[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