sphingomyelin (d17:2/16:0, d18:2/15:0)* to sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*

Numerator Metabolite

Metabolite Accession: GCST90200125
Name: sphingomyelin (d17:2/16:0, d18:2/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Metabolite Accession: GCST90200134
Name: sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: JONXXLXMISNQNG

Associated Genomic Regions

Region: rs12897637

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
0.266
Position:
64239351
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
14.455
Reference Allele:
T
-log10(P):
-107.375
MAF:
0.165
Beta (Num):
0.208
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.058
SE (Den):
0.021
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

Region: rs364585

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Clumped rQTL variant

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SNP Summary

Chr:
20
Beta (Ratio):
-0.357
Position:
12962718
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-25.833
Reference Allele:
G
-log10(P):
-337.141
MAF:
0.385
Beta (Num):
0.025
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
0.382
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

The ratio reflects the balance of different sphingomyelin species which can be influenced by ISM1's role in regulating lipid and sphingolipid metabolism.4[1], 2[2], 3[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

ISM1, a secreted adipokine, influences sphingolipid metabolism.1[1], 2[2], 3[3] Alterations in sphingomyelin levels are associated with disorders of lipoprotein metabolism and cholelithiasis, suggesting a link between ISM1-mediated sphingolipid changes and these phenotypes.4[4], 5[5]

Phenotype Driver:

Gene-centric:ISM1

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