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. 2015 Mar 23;3(1):89–129. doi: 10.3390/toxics3010089

Table 1.

Genetic polymorphisms and Hg exposure in humans.

Single nucleotid polymorphism (SNP) Hg source Size of the study (age) β regression coefficient Ref
ATP Binding Cassette (ABC) transporter genes Environmental exposure (fish diet) 1651 (birth cohort) Interaction Log2 fish intake*genotype on log2 cord blood MeHg [143]
rs2032582: TT vs GG β = −0.49 (CI = −0.71 to −0.26)
rs11075290: TT vs CC β = −0.28 (CI = −0.51 to −0.06)
rs2273697: GA+AA vs GG β = 0.16 (CI = 0.01 to 0.32)
Trasferrin (TF), Brain Derived Neurotrophic Factor (BDNF) Not known (Avon longitudinal study of parents and children) 1135 (0–8y) Log10 cord blood MeHg on WISC-III Performance IQ in selected genotypes [45]
TF rs3811647: AA β = −22.7 (CI = −44.0 to −1.5)
BDNF rs2049046: AA β = −13.7 (CI = −26.9 to −0.4)
Metallothionein (MT1M, MT2A) Dental amalgalm tooth filling 120 boys, 118 girls (8–12y) Loge urinary Hg on RAVLT8 in selected genotypes [139]
MT1M rs2270837: GA+AA β = −2.11 (SE = 0.74)
MT2A rs10636: GC+CC β = −1.96 (SE = 0.86)
Loge urinary Hg on Visual Spatial—Digit Symbol in selected genotypes
MT2A rs10636: GC+CC β = −12.9 (SE = 4.77)
Glutathione related genes: Glutamyl-cysteine-ligases modifier subunit (GCLM) Glutathione-S-transferase μ1 (GSTM1) Environmental exposure (fish diet) 400 (adults) Genotype on Loge blood Hg [156]
GCLM-588: TT β = −0.32 (p = 0.017)
GSTM1*0: Homozygous β = 0.20 (p = 0.017)
Genotype on Loge hair Hg
GCLM-588: TT β = −0.33 (p = 0.009)
GSTM1*0: Homozygous β = 0.20 (p = 0.013)
Apolipoprotein E (APOE) Environmental exposure (fish diet) 180 (0–2y) Loge cord blood MeHg on CDIIT cognition score in selected genotypes [141]
APOE: ε4 carrier β = −8.47 (CI = −16.1 to −0.84)
Loge cord blood MeHg on CDIIT social score in selected genotypes
APOE: ε4 carrier β = −11.02 (CI = −20.85 to −1.19)
Loge cord blood MeHg on CDIIT whole test score in selected genotypes
APOE: ε4 carrier β = −10.45 (CI = −17.36 to −3.54)
Coproporphyrinogen oxidase (CPOX); Metallothionine (MT1M, MT2A); Catechol-O-methyltransferase (COMT); Tryptophan 2,3-dioxygenase (TDO2) Dental amalgalm tooth filling 120 boys, 118 girls (8–12 y) Loge urinary Hg on neurobehavioral tests in selected genotypes (boys) [144]
CPOX rs1131857: AC+CC
Attention: β range = −2.45 (SE = 0.97) to −18.1 (SE = 4.89)
Visual-Spatial: β = −20.7 (SE = 6.08)
Executive function: β = 22.26 (SE = 7.03)
Learning & Memory: β range = −1.78 (SE = 0.80) to −2.24 (SE = 0.82)
Motor: β range = −3.46 (SE = 1.65) to −7.16 (SE = 2.9)
MT1M rs2270837: GA+AA
Learning & Memory: β range = −1.56 (SE = 0.53) to −2.11 (SE = 0.74)
MT2A rs10636: GC+CC
Visual-Spatial: β range = −8.21 (SE = 2.62) to −12.9 (SE = 4.77)
Learning & Memory: β range = −1.96 (SE = 0.86) to −6.49 (SE = 2.72)
COMT rs4680: GA+AA
Attention: β = −5.05 (SE = 1.95)
Visual-Spatial: β range = −16.49 (SE = 5.52) to −32.46 (SE = 11.28)
COMT rs4633: CT+TT
Attention: β range = −4.58 (SE = 1.84) to −13.79 (SE = 6.23)
Visual-Spatial: β range = −16.19 (SE = 5.53) to −35.71 (SE = 10.87)
COMT rs6269: AG+GG
Visual-Spatial: β range = −8.48 (SE = 3.83) to −17.92 (SE = 6.8)
TDO2 rs3755907: GA+AA
Attention: β = −14.66 (SE = 7.12)
Visual-Spatial: β = −0.16 (SE = 0.06)
Motor: β = −9.36 (SE = 3.90)

CI: confidential interval; WISC III: Wechsler Intelligence Scale for Children IIIrd version; RAVLT8: Rey Auditory Verbal Learning Test 8; CDIIT: Comprehensive Developmental Inventory for Infants and Toddlers.