Research Article

Genetic Polymorphisms in Glutathione (GSH-) Related Genes Affect the Plasmatic Hg/Whole Blood Hg Partitioning and the Distribution between Inorganic and Methylmercury Levels in Plasma Collected from a Fish-Eating Population

Table 2

Genotype, allele frequencies of GSTM1, GSTT1, GSTP1, GCLM, and GCLC polymorphisms of riverside persons living in the Amazonian region of the Tapajós River, Brazil.

GenotypesGenotype frequenciesMAFaReference MAF
EuropeanAfrican

GSTM1 PresentNull
 Deletion0.660.340.13–0.540.47
GSTT1 PresentNull
 Deletion0.600.400.11–0.280.37
GSTP1 ( Val)Ile/IleIle/Val + Val/ValVal (G) Val Val
 rs16950.370.630.40Yes 0.420.39
GCLM-588 (C/T)CCCT + TTTHWE
 rs413039700.480.520.33Yes 0.100.25
GCLC-128 (C/T)CCCT + TTTHWETfTf
 rs178839010.950.0500.030Yes 0.0600.010

Minor allele frequency.
HWE: Hardy-Weinberg equilibrium. For the GSTM1 and GSTT1 deletions it was not possible to calculate HWE, because the methodology used does not distinguish between hetero- and homozygous genotypes.
Reference values from Mo et al. [32].
Reference values for ss1390210 from HapMap-CEU.
Reference values for ss230641266 from pilot_1_CEU_low_coverage_panel.
Reference values for ss66860389 from CEU_GENO_PANEL; YRI_GENO_PANEL.
Reference values for ss1390210 from HapMap-YRI.
Reference values for ss218528824 from pilot_1_YRI_low_coverage_panel.