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Table 1 Summary of SNP-trait associations identified for Fads1 and Fads2

From: Genetic variation in lipid desaturases and its impact on the development of human disease

dbSNP ID Gene, Region Allele
(M/m)
Population Size & Ethnicity Association findings Ref
Fads1      
rs174537 Fads1 intron G/T n = 1453, Caucasian (ITA)
n = 1120, Caucasian (USA)
GG < GT&TT: ↑LA, ALA; ↓EDA, AA, EPA, LDL-C & total cholesterol in serum [61]
rs174544 Fads1 3' UTR C/A n = 727, Caucasian (GER) CC < CA < AA: ↑LA, EDA, DGLA & ALA; ↓GLA, AA, DTA, EPA & DPA in serum [49]
rs174546 Fads1 3' UTR C/T n = 1144, Caucasian (EUR) CC < CT < TT: ↑LA, DGLA, ALA; ↓AA, EPA, DHA in serum
CC < CT&TT: ↓GLA in serum
[60]
rs174545 Fads1 3' UTR C/G n = 876, Caucasian (ITA) CC < CG < GG: ↑AA, AA/LA, EPA/ALA; ↓LA, ALA in RBC [51]
    n = 658, Caucasian (ITA) CC < CG < GG: ↑AA; ↓ALA, EDA in serum and RBC [57]
rs174547 Fads1 intron T/C n = 1809, Caucasian (GER) TT < TC < CC: ↑PC aa C36:3/PC aa C36:4 [65]
    n = 422, Caucasian (UK) TT < TC < CC: ↑PC aa C36:3/PC aa C36:4 [65]
rs174553 Fads1 intron A/G n = 727, Caucasian (GER) AA < AG < GG: ↑LA, EDA, DGLA & ALA; ↓GLA, AA, DTA, EPA & DPA in serum [49]
    n = 69, 74% Caucasian (CAN) AA < AG&GG: ↑LA; ↓AA in plasma and RBC during gestation [68]
    n = 54, 74% Caucasian (CAN) AA < AG < GG: ↑EDA; ↓AA, EPA, DPA in breast milk [68]
rs174556 Fads1 intron C/T n = 727, Caucasian (GER) CC < CT < TT: ↑LA, EDA, DGLA & ALA in serum; ↓GLA, AA, DTA, EPA & DPA in serum [49]
    n = 658, Caucasian (ITA) CC < CT < TT: ↑EDA in serum & RBC; ↓AA in serum & RBC [57]
rs174561 Fads1 intron CpG-island, promoter region T/C n = 727, Caucasian (GER) TT < TC < CC: ↑LA, EDA, DGLA, ALA in serum; ↓GLA, AA, DTA, EPA & DPA in serum [49]
    n = 658, Caucasian (ITA) TT < TC < CC: ↑EDA in serum & RBC; ↓AA in serum & RBC [57]
    n = 309, Caucasian (DUT) TT < TC < CC: ↑GA, EA LA, EDA, DGLA; ↓GLA, AA, DTA, DHA in plasma phospholipids
TT < TC < CC: ↑DGLA; ↓AA, DTA, EPA, DHA in breast milk
[67]
Fads2      
rs174570 Fads2 intron C/T n = 727, Caucasian (GER) CC < CT&TT: ↑EDA in serum; ↓GLA, AA, DTA in serum [49]
    n = 876, Caucasian (ITA) CC < CT < TT: ↑LA, ALA in RBC; ↓AA, AA/LA in RBC [51]
    n = 658, Caucasian (ITA) CC < CT < TT: ↑LA in RBC, ↓AA in serum & RBC [57]
    n = 1144, Caucasian (EUR) CC < CT < TT: ↑LA, ALA; ↓AA in serum
CC < CT&TT: ↓GLA in serum
[60]
rs174572 Fads2 intron C/T n = 1144, Caucasian (EUR) CC < CT < TT: ↑LA, DGLA, ALA; ↓AA, EPA in serum
CC < CT&TT: ↓GLA, DHA in serum
[60]
rs174575 Fads2 intron C/G n = 54, 74% Caucasian (CAN) CC < CG&GG: ↓AA, EPA, DPA & DHA in breast milk [68]
    n = 309, Caucasian (DUT) CC < CG < GG: ↑GA, LA, EDA, DGLA; ↓AA, DTA, DHA in plasma phospholipids
CC < CG < GG: ↑DGLA; ↓PEA, AA, DTA, EPA, DPA in breast milk
[67]
rs174583 Fads2 intron C/T n = 727, Caucasian (GER) CC < CT < TT: ↑LA, EDA, DGLA & ALA in serum; ↓GLA, AA, DTA, EPA & DPA in serum [49]
    n = 876, Caucasian (ITA) CC < CT < TT: ↑LA, ALA in RBC; ↓AA, AA/LA, EPA/ALA in RBC [51]
    n = 658, Caucasian (ITA) CC < CT < TT: ↑ALA, EDA, LA in serum & RBC; ↓AA in serum & RBC [57]
rs174589 Fads2 exon/intron boundary G/C n = 727, Caucasian (GER) GG < GC < CC: ↑LA, EDA & DGLA in serum; ↓GLA, AA, EPA & DPA in serum [49]
    n = 876, Caucasian (ITA) GG < GC&CC: ↑AA, AA/LA in RBC; ↓LA, EPA/ALA in RBC [51]
    n = 658, Caucasian (ITA) GG < GC < CC: ↑AA, in serum & RBC, ↓EDA in serum [57]
    n = 1144, Caucasian (EUR) GG < GC < CC: ↑LA, DGLA, ALA; ↓AA, EPA in serum
GG < GC&CC: ↓GLA in serum
[60]
rs174602 Fads2 exon/intron boundary A/G n = 727, Caucasian (GER) AA < AG < GG: ↑LA, EDA in serum; ↓AA in serum [49]
    n = 1144, Caucasian (EUR) AA < AG < GG: ↑LA, ALA; ↓AA, EPA in serum [60]
rs174611 Fads2 intron T/C n = 876, Caucasian
(ITA)
TT < TC < CC: ↑LA, ALA in RBC; ↓AA, AA/LA, EPA/ALA in RBC [51]
    n = 658, Caucasian (ITA) TT < TC < CC: ↑EDA in serum ↓AA in serum & RBC [57]
    n = 1144, Caucasian (EUR) TT < TC < CC: ↑LA, DGLA, ALA; ↓AA in serum
TT < TC&CC: ↓GLA, EPA in serum
[60]
rs174616 Fads2 intron G/A n = 1144, Caucasian (EUR) GG < GA < AA: ↑LA, DGLA; ↓AA in serum
GG < GA&AA: ↑ALA; ↓EPA, DHA in serum
[60]
rs174620 Fads2 intron T/C n = 727, Caucasian (GER) TT < TC < CC: ↑DGLA in serum; ↓AA in serum [49]
rs2072114 Fads2 exon/
intron boundary
A/G n = 727, Caucasian
(GER)
AA < AG&GG: ↑ LA, EDA in serum; ↓GLA, AA, DTA in serum [49]
    n = 1144, Caucasian (EUR) AA < AG < GG: ↑LA, DGLA, ALA; ↓AA in serum
AA < AG&GG: ↓GLA in serum
[60]
rs2524299 Fads2 intron A/T n = 876, Caucasian (ITA) AA < AT < TT: ↑LA in RBC; ↓AA, AA/LA in RBC [51]
    n = 658, Caucasian (ITA) AA < AT < TT: ↓AA in serum and RBC [57]
rs482548 Fads2 3' UTR C/T n = 727, Caucasian (GER) CC < CT&TT: ↑AA, DTA in serum [49]
rs498793 Fads2 intron G/A n = 658, Caucasian (ITA) No significant association found with lipid species in serum or RBC [57]
    n = 1144, Caucasian (EUR) GG < GA < AA: ↑AA; ↓LA in serum
GG < GA&AA: ↑EPA in serum
[60]
rs526126 Fads2 exon/
intron boundary
G/C n = 727, Caucasian (GER) GG < GC < CC: ↑DGLA in serum [49]
    n = 1144, Caucasian (EUR) GG < GC < CC: ↑LA, ALA; ↓AA in serum [60]
rs968567 Fads2 5'UTR C/T n = 1144, Caucasian (EUR) CC < CT < TT: ↑LA, DGLA, ALA; ↓AA, EPA
CC < CT&TT: ↓GLA in serum
[60]
rs99780 Fads2 intron C/T n = 727, Caucasian (GER) CC < CT < TT: ↑levels of LA, EDA, DGLA, ALA in serum; ↓GLA, AA, EPA, DPA in serum [49]
Intergenic      
rs174627 Fads2/Fads3 Intergenic C/T n = 876, Caucasian (ITA) CC < CT < TT: ↑LA, ALA in RBC; ↓AA, AA/LA, EPA/ALA in RBC [51]
    n = 658, Caucasian (ITA) CC < CT < TT: ↑EDA, AA in serum [57]
rs17831757 Fads2/Fads3
Intergenic
T/C n = 658, Caucasian (ITA) TT < TC&CC: ↓AA in serum [57]
rs3834458 Fads1/Fads2
intergenic, CpG-island
T/del* n = 727, Caucasian
(GER)
TT < T/del < del/del: ↑LA, EDA, DGLA, ALA in serum; ↓GLA, AA, DTA, EPA, DPA in serum [49]
    n = 1694 (case),
Caucasian (ITAL)
TT < T/del < del/del: ↑ETE & EDA in adipose tissue; ↑ plasma TG;
↓EPA, GLA & AA in adipose tissue
[58]
    n = 876, Caucasian (ITA) TT < T/del & del/del: ↑LA, ALA; ↓AA, AA/LA, EPA/ALA in RBC [51]
    n = 658, Caucasian (ITA) TT < T/del < del/del: ↑ALA, EDA in serum; ↑LA, EDA in RBC; ↓AA in serum and RBC [57]
    n = 309, Caucasian (DUT) TT < T/del < del/del: ↑GA, EA, LA, EDA, DGLA; ↓GLA, AA, DTA, DHA in plasma phospholipids
TT < T/del < del/del: ↑LA, DGLA; ↓AA, DTA, EPA, DPA, DHA in breast milk
[67]
rs968567 Fads1/Fads2 intergenic, CpG-island, promoter region G/A n = 727, Caucasian (GER) GG < GA&AA: ↑LA, DGLA in serum; ↓GLA, AA, EPA & DPA in serum [49]
  1. Several SNPs have been examined in Fads1 and Fads2; however, only significant associations (p < 0.05) are listed in this table. Associations between Fads genes and several fatty acids have been identified, including: palmitelaidic acid (PEA, C16:1n-7), gadoleic acid (GA, C20:1n-9), erucic acid (EA, C22:1n-9), linoleic acid (LA, C18:2n-6), γ-linoleic acid (GLA, C18:3n-6), eicosadienoic acid (EDA, C20:2n-6), dihomo-γ-linolenic acid (DGLA, C20:3n-6), arachidonic acid (AA, C20:4n-6), adrenic acid (DTA, C22:4n-6), α-linolenic acid (ALA, C18:3n-3), eicosatrienoic acid (ETE, 20:3n-3), eicosapentaenoic acid (EPA, C20:5n-3), docosapentaenoic acid (DPA, C22:5n-3), docosahexaenoic acid (DHA, C22:6n-3), phosphatidylcholine diacyl C36:3 (PC aa C36:3), and phosphatidylcholine diacyl C36:4 (PC aa C36:4). Other abbreviations: LDL-C, low-density lipoprotein cholesterol; TG, triglyceride; RBC, red blood cell; M/m, major and minor allele; and *del, deletion. A ↑ indicates an increase and a ↓ represents a decrease.