sphingomyelin (d17:2/16:0, d18:2/15:0)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

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

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs558813

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.086
Position:
129722553
SE (Ratio):
0.011
Effect Allele:
T
Z-score (Ratio):
-7.695
Reference Allele:
C
-log10(P):
-31.891
MAF:
0.178
Beta (Num):
-0.015
Novel Locus:
Yes ✔️
SE (Num):
0.018
Beta (Den):
0.071
SE (Den):
0.017
No CNV overlap
rQTL cluster:
249
Reaction Distance:
NA
Closest Genes:
TMEM45B NFRKB PRDM10 AP003041.2 APLP2

Region: rs1871194

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.106
Position:
8283819
SE (Ratio):
0.009
Effect Allele:
C
Z-score (Ratio):
11.667
Reference Allele:
A
-log10(P):
-70.744
MAF:
0.462
Beta (Num):
0.037
Novel Locus:
Yes ✔️
SE (Num):
0.014
Beta (Den):
-0.068
SE (Den):
0.013
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], 6[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Ratio Explanation:

The ratio reflects the balance of sphingomyelin species with different fatty acid chains, influenced by the substrate specificity of the upstream enzyme CERS4.7[1], 3[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity changes the sphingomyelin profile, which is critical for myelin sheath integrity. This dysregulation is linked to polyneuropathies.8[1], 9[2] A connection to gout exists through general disruption of sphingolipid metabolism, which is observed in patients with gout.10[3], 11[4], 12[5]

Phenotype Driver:

Gene-centric:CERS4

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