5-methylthioadenosine (mta) to n-acetylputrescine

Numerator Metabolite

Structure of 5-methylthioadenosine (mta)
Metabolite Accession: GCST90200359
Name: 5-methylthioadenosine (mta)
Hmdb Id: HMDB0001173
Super Pathway: NA
Sub Pathway: NA
Inchikey: WUUGFSXJNOTRMR

Denominator Metabolite

Structure of n-acetylputrescine
Metabolite Accession: GCST90200351
Name: n-acetylputrescine
Hmdb Id: HMDB0002064
Super Pathway: NA
Sub Pathway: NA
Inchikey: KLZGKIDSEJWEDW

Associated Genomic Regions

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.177
Position:
211540507
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-8.928
Reference Allele:
C
-log10(P):
-42.278
MAF:
0.310
Beta (Num):
-0.107
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.071
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
2.0
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

Region: rs662138

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.197
Position:
160564476
SE (Ratio):
0.024
Effect Allele:
G
Z-score (Ratio):
-8.147
Reference Allele:
C
-log10(P):
-35.523
MAF:
0.176
Beta (Num):
-0.115
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.082
SE (Den):
0.020
No CNV overlap
rQTL cluster:
97
Reaction Distance:
2.0
Closest Genes:
SLC22A1 SLC22A2 IGF2R SLC22A3 MAS1

LLM Analysis

Numerator Metabolite Explanation:

Methionine salvage, polyamine biosynthesis.4[1], 5[2]

Denominator Metabolite Explanation:

Polyamine metabolism, GABA biosynthesis.6[1]

Ratio Explanation:

The ratio reflects the balance between methionine salvage/polyamine synthesis (MTA) and polyamine breakdown/GABA synthesis (N-acetylputrescine), potentially influenced by shared transport mechanisms like SLC22A1.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered SLC22A1 function may disrupt the transport of both MTA and N-acetylputrescine, impacting polyamine and methionine metabolism. This dysregulation is linked to altered lipid profiles and an increased risk for hypercholesterolemia and cholelithiasis, conditions involving cholesterol and bile acid homeostasis.2[1], 3[2], 7[3]

Phenotype Driver:

Gene-centric:SLC22A1

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