sphingomyelin (d18:1/20:1, d18:2/20:0)* to sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*

Numerator Metabolite

Metabolite Accession: GCST90199996
Name: sphingomyelin (d18:1/20:1, d18:2/20:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

Associated Genomic Regions

Region: rs174560

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.211
Position:
61581764
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
-14.032
Reference Allele:
T
-log10(P):
-101.318
MAF:
0.308
Beta (Num):
-0.139
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.072
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs1466448

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.311
Position:
8289519
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
-17.753
Reference Allele:
A
-log10(P):
-160.696
MAF:
0.191
Beta (Num):
-0.264
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.047
SE (Den):
0.018
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Ratio Explanation:

The ratio reflects a shift in sphingomyelin composition, comparing species with C20 fatty acids to those with longer C22 and C24 chains.6[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS1 activity likely changes the availability of specific fatty acid precursors for sphingomyelin synthesis. This dysregulation of lipid metabolism is linked to inflammation and metabolic disorders such as hypercholesterolemia, phlebitis, and asthma, which are observed in the associated phenotypes.8[1], 9[2], 10[3], 11[4]

Phenotype Driver:

Gene-centric:FADS1

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