Table 1.
Characteristics of the SNPs included in the analyses
| SNPa (dbSNP name) | Function/region of SNP | Genotype | Frequency (%) [frequency among MetS probands (%)] |
HWE, p value | ||
|---|---|---|---|---|---|---|
| major allele homozygous | heterozygous | minor allele homozygous | ||||
| USF1 | ||||||
| rs2774279 | synonymousb/exon 12 of ARHGAP30 | C>T | 675 (42.19) [381 (40.92)] | 733 (45.81) [441 (47.37)] | 192 (12.00) [109 (11.71)] | 0.75 |
| rs10908821 | intron 1/3'UTR | C>G | 1216 (75.91) [708 (75.97)] | 358 (22.35) [207 (22.21)] | 28 (1.75) [17 (11)] | 0.78 |
| rs2073658 | intron 7 | G>A | 814 (50.75) [461 (49.36)] | 666 (41.52) [397 (42.51)] | 124 (7.73) [76 (8.14)] | 0.45 |
| rs2774276 | intron 5 | G>C | 944 (58.89) [556 (59.53)] | 572 (35.68) [325 (34.8)] | 87 (5.43) [53 (5.67)] | 0.98 |
| rs2516839 | 5' UTR/ exon 2 | A>G | 652 (40.78) [393 (42.3)] | 737 (46.09) [424 (45.64)] | 210 (13.13) [112 (12.06)] | 0.94 |
| rs1556259 | 3' near gene of USF1 / intron 1 | T>C | 1217 (75.92) [721 (77.28)] | 356 (22.21) [197 (21.11)] | 30 (1.87) [15 (1.61)] | 0.51 |
| APOA5 | ||||||
| rs2542061 | intergenic region | A>G | 398 (25.17) [223 (24.32)] | 795 (50.28) [469 (317)] | 388 (24.54) [225 (24.54)] | 0.82 |
| rs633867 | 3'UTR | C>T | 1,493 (95.77) [877 (96.37)] | 65 (4.17) [32 (3.52)] | 1 (0.06) [1 (0.11)] | 0.74 |
| rs1729411 | promoter region | G>A | 1,188 (74.76) [688 (74.38)] | 379 (23.85) [223 (24.11)] | 22 (1.38) [14 (1.51)] | 0.18 |
| rs662799 | promoter | A>G | 1,376 (85.63) [817 (87.38)] | 218 (13.57) [113 (12.09)] | 13 (0.81) [5 (0.53)] | 0.18 |
| rs619054 | 3' UTR in exon 3 | G>A | 872 (54.23) [499 (53.31)] | 627 (38.99) [372 (39.74)] | 109 (6.78) [65 (6.94)] | 0.80 |
| rs3135507 | missenseb (Met>Val)/ exon 3 | C>T | 1,500 (94.04) [876 (94.4)] | 94 (5.89) [51 (5.5)] | 1 (0.06) [1 (0.11)] | 0.70 |
| rs3135506 | missenseb (Trp>Ser)/ exon 2 signal peptide | G>C | 1,360 (88.71) [809 (89.89)] | 165 (10.76) [89 (9.89)] | 8 (0.52) [2 (0.22)] | 0.22 |
a
Bold SNPs are enclosed in the significant combinations in the overall study population.
b
Amino acid change due to SNP.