Table 2 Characteristics of SNPs within the FADS gene cluster and ELOVL gene family
dbSNP no.a | Sequenceb | Position | Alleles (major/minor) | n c (%) | MAF | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AA | CC | CA | CG | CT | GA | GG | GT | TT | |||||
FADS1 | |||||||||||||
rs174546 | TGC[C/T]TTG | 3′UTR | C/T | 103 (49.8) | 86 (41.2) | 10 (9.1) | T = 29.8 | ||||||
FADS2 | |||||||||||||
rs482548 | CAC[C/T]GTG | 3′UTR | C/T | 161 (77.8) | 40 (19.3) | 6 (2.9) | T = 12.4 | ||||||
rs2072114 | TTC[A/G]GGT | Intron | A/G | 167 (79.9) | 38 (18.2) | 4 (1.9) | G = 10.9 | ||||||
rs2845573 | TCA[C/T]GTT | Intron | A/G | 177 (84.7) | 30 (14.4) | 2 (1.0) | G = 8.1 | ||||||
rs174602 | CCC[A/G]TCC | Intron | T/C | 9 (4.3) | 59 (28.2) | 141 (67.5) | C = 18.8 | ||||||
rs498793 | AAC[A/G]CAG | Intron | C/T | 62 (9.8) | 99 (71.7) | 43 (18.6) | T = 42.0 | ||||||
rs174570 | TGA[C/T]GTA | Intron | C/T | 159 (76.4) | 46 (22.1) | 3 (1.4) | T = 12.4 | ||||||
rs174579 | TTT[C/T]CAG | Intron | C/T | 127 (61.1) | 78 (37.5) | 3 (1.4) | T = 20.3 | ||||||
rs174611 | GGA[C/T]CCT | Intron | T/C | 12 (5.7) | 84 (40.2) | 113 (54.1) | C = 25.9 | ||||||
rs174616 | TCA[C/T]GTT | Intron | G/A | 51 (24.4) | 158 (51.7) | 50 (23.9) | G = 49.5 | ||||||
rs968567 | CGG[A/G]AGC | 5′UTR | G/A | 2 (1.0) | 63 (30.1) | 144 (68.9) | A = 7.1 | ||||||
rs7935946 | TTC[C/T]GGG | Intron | 195 (93.3) | 11 (5.3) | 3 (1.4) | ||||||||
FADS3 | |||||||||||||
rs174456 | TAC[A/C]TGG | Intron | A/C | 102 (48.8) | 18 (8.6) | 89 (42.6) | C = 30.0 | ||||||
rs7394871 | GAC[A/C]CCT | Intron | C/A | 2 (1.0) | 181 (86.6) | 26 (12.4) | A = 7.1 | ||||||
rs7942717 | ACG[A/G]GTG | Intron | A/G | 161 (77.0) | 47 (22.5) | 1 (0.5) | G = 11.7 | ||||||
Intergenic regions within the FADS gene cluster | |||||||||||||
rs174627 | CTG[C/T]GTA | Intergenic | G/A | 2 (1.0) | 48 (23.0) | 159 (76.1) | A = 12.6 | ||||||
rs12807005 | ATG[A/G]ATC | Intergenic | G/A | 0 (0) | 5 (2.4) | 204 (97.6) | A = 1.2 | ||||||
rs174448 | TGA[C/T]TTC | Intergenic | A/G | 78 (37.5) | 109 (52.4) | 21 (10.1) | G = 36.3 | ||||||
rs7482316 | CAA[A/G]CTG | Intergenic | A/G | 168 (80.4) | 39 (18.7) | 2 (1.0) | G = 10.2 | ||||||
ELOVL2 | |||||||||||||
rs13204015 | TTC[C/T]TTT | Intron | T/C | 0 (0) | 17 (8.1) | 191 (91.9) | C = 4.1 | ||||||
rs12195587 | AAC[A/G]TAA | Exon | G/A | 1 (0.5) | 59 (28.2) | 149 (71.3) | A = 14.6 | ||||||
rs4532436 | AGC[C/G]AAT | 3′UTR | C/G | 43 (21.0) | 121 (59.0) | 41 (20.0) | G = 49.5 | ||||||
rs3734397 | CTC[A/G]GTA | 3′UTR | C/G | 129 (61.4) | 69 (32.9) | 15 (5.7) | G = 22.1 | ||||||
rs2281591 | TCT[A/G]TTT | Intron | A/G | 102 (48.6) | 93 (44.4) | 15 (7.1) | G = 29.3 | ||||||
rs3798710 | TTT[C/G]AAC | Intron | C/G | 139 (66.2) | 62 (29.5) | 9 (4.3) | G = 19.1 | ||||||
ELOVL5 | |||||||||||||
rs209492 | TTG[C/T]TTA | Intron | T/C | 4 (1.9) | 47 (22.4) | 159 (75.7) | C = 13.1 | ||||||
rs2073040 | AGC[A/G]GAT | Intron | A/G | 82 (39.1) | 102 (48.6) | 26 (12.4) | G = 36.7 | ||||||
rs2294852 | CCA[C/G]GTT | Intron | C/G | 59 (28.1) | 103 (49.1) | 48 (22.9) | G = 47.4 | ||||||
rs9370194 | GAC[C/T]GTT | Intron | C/T | 104 (49.5) | 96 (45.7) | 10 (4.8) | T = 27.6 | ||||||