sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to Docosahexaenoate DHA; 22:6n3

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 docosahexaenoate (dha; 22:6n3)
Metabolite Accession: GCST90199651
Name: docosahexaenoate (dha; 22:6n3)
Hmdb Id: HMDB0002183
Super Pathway: NA
Sub Pathway: NA
Inchikey: MBMBGCFOFBJSGT

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):
0.164
Position:
61564299
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
8.199
Reference Allele:
G
-log10(P):
-35.956
MAF:
0.353
Beta (Num):
0.080
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
-0.084
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FEN1 FADS1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.8[1], 9[2], 10[3]

Ratio Explanation:

This ratio reflects the activity of the FADS enzyme cluster, balancing the production of complex lipids like sphingomyelins with long-chain polyunsaturated fatty acids like DHA.11[1], 12[2], 13[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in the FADS cluster influences the efficiency of producing long-chain polyunsaturated fatty acids, which impacts the composition of sphingomyelins and levels of DHA. This alteration in lipid metabolism is associated with dyslipidemia, such as pure hypercholesterolemia, and inflammatory conditions like cholelithiasis and asthma.14[1], 15[2], 16[3], 17[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