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combined effect of N6AMT1 (show N6AMT1 Proteins) haplotype 2_GGCCAT and As3MT haplotype 2_GCAC showed consistence with the additive significance of each haplotype on % iAs: the mean was 5.47% and 9.36% for carriers with both and null haplotypes, respectively
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Maternal alleles for five of the seven SNPs (rs7085104, rs3740400, rs3740393, rs3740390, and rs1046778) were associated with urinary concentrations of iAs metabolites, and alleles for one SNP (rs3740393) were associated with birth outcomes/measures. These associations were strongly dependent upon the male sex of the fetus but independent of fetal genotype for AS3MT.
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In this large-scale, Han Chinese population-based genetic association study for genetic susceptibility to schizophrenia of a three-gene cluster region, AS3MT-CNNM2 (show CNNM2 Proteins)-NT5C2 (show NT5C2 Proteins), two SNPs with independent effects, rs11191419 and rs11191514, were identified. Rs11191419 is located on the 5' (potential promoter) region of AS3MT, while rs11191514 is located in one of the introns of CNNM2 (show CNNM2 Proteins).
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The combined analysis confirmed evidence of genome-wide significant associations in the Han Chinese population for three loci, at 2p16.1 (rs1051061, in an exon of VRK2, P=1.14 x 10-12, odds ratio (OR)=1.17), 6p22.1 (rs115070292 in an intron of GABBR1, P=4.96 x 10-10, OR=0.77) and 10q24.32 (rs10883795 in an intron of AS3MT, P=7.94 x 10-10, OR=0.87; rs10883765 at an intron of ARL3, P=3.06 x 10-9, OR=0.87).
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this study implicates altered neural expression of BORCS7, AS3MT, and NT5C2 (show NT5C2 Proteins) in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus
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AS3MT and N6AMT1 (show N6AMT1 Proteins) polymorphisms and urinary arsenic metabolites (%iAs, %MMA (show MMD Proteins), %DMA (show HLA-DMA Proteins)) in 722 subjects from an arsenic-cancer case-control study in a uniquely exposed area in northern Chile, were examined.
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Risk alleles spanning multiple genes across the 10q24.32 schizophrenia-related locus are associated in the human brain selectively with an increase in the expression of both BLOC-1 (show BLOC1S1 Proteins) related complex subunit 7 (show CCT7 Proteins) (BORCS7) and a previously uncharacterized, human-specific arsenite methyltransferase (AS3MT) isoform (AS3MTd2d3).
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A joint dose-response effect was identified for a AS3MT high-risk haplotype and inefficient arsenic methylation capacity on developmental delay.
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genome-wide association study in population in United States (AZ, OK, SD, ND): Data suggest SNPs in AS3MT (rs17878846, rs10509760) partly explain inter-individual variability in susceptibility to arsenic poisoning (and urine arsenic species patterns).
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The present study found that rs3740400 in As3MT and rs156697 in GSTO2 were strongly associated with the arsenic species (%iAs, %MMA and MMA/iAs and DMA/MMA ratios) in urine of the occupationally exposed workers and they may influence methylation capacity.
