Table 2. Genetic characteristics and cord blood mercury concentrations (geometric means and 95% confidence intervals) according to genotype.
| Italy | Greece | Spain | |||||||||||||||
| SNPs | Gene | Genotypea | N (%) | HWE pc | MAFb | HgGM (95%CI) | p-valued | N (%) | HWE pc | MAFb | HgGM (95%CI) | p-valued | N (%) | HWE pc | MAFb | HgGM (95%CI) | p-dvalue |
| rs3905000 | ABCA1 | GG | 434 (73.4) | 0.272 | 0.15 | 3.9 (3.6, 4.2) | 0.808 | 283 (76.5) | 0.377 | 0.13 | 5.3 (4.8, 5.9) | 0.859 | 475 (69.4) | 0.649 | 0.17 | 8.1 (7.6, 8.7) | 0.550 |
| Intronic (Chr 9) | AG | 141 (23.9) | 3.9 (3.4, 4.4) | 79 (21.4) | 5.6 (4.7, 6.6) | 188 (27.5) | 8.3 (7.3, 9.4) | ||||||||||
| AA | 16 (2.7) | 3.3 (1.9, 5.8) | 8 (2.2) | 6.9 (3.5, 13.8) | 21 (3.1) | 10.1 (6.8, 15.0) | |||||||||||
| rs2032582 | ABCB1 | GG | 155 (26.9) | 0.163 | 0.47 | 3.2 (2.8, 3.7) | 0.018 | 128 (36.0) | 0.783 | 0.40 | 5.4 (4.6, 6.3) | 0.617 | 226 (33.0) | 0.522 | 0.42 | 8.8 (7.9, 9.9) | 0.202 |
| Non-synonymous (Chr 7) | GT | 304 (52.7) | 4.0 (3.7, 4.4) | 173 (48.6) | 5.5 (4.9, 6.3) | 342 (49.9) | 8.1 (7.4, 8.8) | ||||||||||
| TT | 118 (20.5) | 4.2 (3.6, 4.9) | 55 (15.4) | 4.9 (3.9, 6.1) | 117 (17.1) | 7.5 (6.5, 8.7) | |||||||||||
| rs3213619 | ABCB1 | AA | 578 (97.4) | 0.616 | 0.02 | 3.9 (3.6, 4.1) | 0.336 | 347 (93.7) | <0.001 | 0.04 | 5.4 (4.9, 5.9) | 0.728 | 624 (91.0) | 0.663 | 0.05 | 8.2 (7.7, 8.7) | 0.838 |
| 5′ UTR (Chr 7) | AG | 14 (2.3) | 3.1 (1.8, 5.3) | 20 (5.4) | 5.5 (3.8, 7.8) | 60 (8.7) | 8.3 (6.6, 10.4) | ||||||||||
| GG | 0 | 3 (0.8) | 7.0 (0.5, 93.7) | 2 (0.3) | 13.5 (8.4, 21.6) | ||||||||||||
| rs11075290 | ABCC1 | CC | 115 (19.9) | 0.346 | 0.44 | 4.4 (3.8, 5.3) | 0.046 | 94 (25.8) | 0.996 | 0.49 | 5.9 (5.0, 7.0) | 0.571 | 108 (16.0) | 0.908 | 0.40 | 8.0 (6.9, 9.2) | 0.014 |
| Intronic (Chr 16) | TC | 273 (47.2) | 3.5 (3.2, 3.9) | 182 (50.0) | 5.2 (4.6, 5.9) | 325 (48.3) | 8.8 (8.1, 9.7) | ||||||||||
| TT | 190 (32.9) | 3.9 (3.5, 4.4) | 88 (24.2) | 5.4 (4.5, 6.4) | 240 (35.7) | 7.5 (6.8, 8.3) | |||||||||||
| rs2273697 | ABCC2 | GG | 360 (61.3) | 0.618 | 0.21 | 3.9 (3.5, 4.2) | 0.078 | 216 (58.4) | 0.723 | 0.23 | 5.4 (4.8, 6.1) | 0.919 | 446 (65.0) | 0.226 | 0.20 | 8.2 (7.6, 8.8) | 0.292 |
| Non-synonymous (Chr 10) | AG | 202 (34.4) | 3.9 (3.5, 4.5) | 135 (36.5) | 5.4 (4.7, 6.2) | 208 (30.3) | 7.9 (7.1, 8.9) | ||||||||||
| AA | 25 (4.3) | 2.9 (2.2, 3.9) | 19 (5.1) | 5.1 (3.6, 7.2) | 32 (4.7) | 10.3 (7.9, 13.3) | |||||||||||
a
Reference genotype is the homozygote for the ancestral allele.
b
MAF: minor allele frequency.
c
HWE p: p-value for the Chi2-test of Hardy-Weinberg equilibrium.
d
p-value obtained by Kruskal-Wallis test.
GM: geometric mean.