hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to palmitoyl dihydrosphingomyelin (d18:0/16:0)*

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Metabolite Accession: GCST90200035
Name: palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Hmdb Id: HMDB0010168
Super Pathway: NA
Sub Pathway: NA
Inchikey: QHZIGNLCLJPLCU

Associated Genomic Regions

Region: rs174547

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.329
Position:
61570783
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
22.312
Reference Allele:
T
-log10(P):
-252.240
MAF:
0.340
Beta (Num):
0.278
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.050
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

Region: rs17101394

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
0.226
Position:
64232386
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
11.974
Reference Allele:
G
-log10(P):
-74.401
MAF:
0.164
Beta (Num):
0.040
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.186
SE (Den):
0.020
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.6[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism.7[1], 6[2]

Ratio Explanation:

The ratio reflects the relative activity of hydroxylation and desaturation in sphingolipid biosynthesis, potentially influenced by FADS enzyme activity on fatty acid precursors.3[1], 4[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in the FADS cluster influence fatty acid desaturation, which can alter sphingolipid composition.3[1], 4[2] This altered ratio is associated with an increased risk for cholelithiasis and type 2 diabetes, potentially through mechanisms involving inflammation and lipoprotein metabolism.8[3], 1[4], 9[5], 10[6], 11[7], 12[8], 13[9]

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