dihomo-linolenate (20:3n3 or n6) to palmitoleate (16:1n7)

Numerator Metabolite

Structure of dihomo-linolenate (20:3n3 or n6)
Metabolite Accession: GCST90199820
Name: dihomo-linolenate (20:3n3 or n6)
Hmdb Id: HMDB0002925
Super Pathway: NA
Sub Pathway: NA
Inchikey: AHANXAKGNAKFSK

Denominator Metabolite

Structure of palmitoleate (16:1n7)
Metabolite Accession: GCST90200388
Name: palmitoleate (16:1n7)
Hmdb Id: HMDB0003229
Super Pathway: NA
Sub Pathway: NA
Inchikey: SECPZKHBENQXJG

Associated Genomic Regions

Region: rs603424

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
10
Beta (Ratio):
0.166
Position:
102075479
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
13.465
Reference Allele:
G
-log10(P):
-93.482
MAF:
0.176
Beta (Num):
0.038
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.128
SE (Den):
0.019
No CNV overlap
rQTL cluster:
67
Reaction Distance:
NA
Closest Genes:
PKD2L1 BLOC1S2 SCD CWF19L1 CHUK

Region: rs61897793

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
0.140
Position:
61599347
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
11.493
Reference Allele:
G
-log10(P):
-68.719
MAF:
0.181
Beta (Num):
0.147
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.008
SE (Den):
0.019
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 FADS3

Region: rs12928099

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
16
Beta (Ratio):
0.097
Position:
15150505
SE (Ratio):
0.010
Effect Allele:
A
Z-score (Ratio):
9.456
Reference Allele:
C
-log10(P):
-47.191
MAF:
0.291
Beta (Num):
0.100
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.003
SE (Den):
0.016
No CNV overlap
rQTL cluster:
34
Reaction Distance:
NA
Closest Genes:
PDXDC1 NTAN1 RRN3 NPIPA1 NOMO1

LLM Analysis

Numerator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.3[1], 4[2]

Denominator Metabolite Explanation:

De novo lipogenesis.5[1], 6[2]

Ratio Explanation:

The ratio reflects the balance between polyunsaturated fatty acid synthesis (FADS activity) and monounsaturated fatty acid synthesis from de novo lipogenesis (SCD activity).7[1], 8[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS genes alters desaturase activity, changing the balance of fatty acids which can impact inflammation and lipid metabolism.1[1], 9[2], 10[3], 11[4] This dysregulation is associated with atherosclerosis, hypercholesterolaemia, and other cardiovascular diseases.9[5], 12[6], 10[7]

Phenotype Driver:

Gene-centric: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