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Abstract Title: Frequency Distribution of Polymorphisms in Genes Related to Hg Kinetics and Dynamics across Europe
Presenter Name: Anja Stajnko
Company/Institution: Jožef Stefan Institute
Session: Progress in understanding Hg and human health impacts
Co-Authors: Anja Stajnko,Janja Snoj Tratnik,Milena Horvat

Abstract Information :

Mercury (Hg) is a ubiquitous pollutant, which has been associated with adverse effects on humans? health, particularly neurodevelopment. Based on the studies investigating the underlying molecular mechanism of Hg toxicity, various single nucleotide polymorphisms (SNPs) in genes involved in the kinetics and dynamics of Hg have been identified as possible significant modifiers of an individual?s response to Hg exposure. Moreover, possible differences in the prevalence of such SNPs between countries ? as observed for SNPs of Apolipoprotein E gene ? might influence susceptibility towards Hg also on the populational level. The aim of the present study was to assess differences in the frequency distribution of 41 selected SNPs between European countries. SNPs were selected based on the current literature on gene-Hg interactions and covered genes coding for: the metallothioneins superfamily (MT1M, MT1A, MT2A, and MT4), glutathione system (GSTM1, GSTT1, GSTA1, GSTP1, GCLC, GCLM, and GSS), selenoproteins (GPX1 & 4, and SELENOP), xenobiotic transporter proteins (ABCC1 & 2, ABCB1 and ATP7B) and genes associated with Hg neurotoxicity (BDNF, COMT, CPOX, PON1, and TF). A literature search for each SNP was conducted using the reference SNP number assigned by dbSNP (e.g. rs10636). Collected data were obtained from open-source databases dbSNP, Ensembl, and ALFRED and from existing literature. We excluded data for which country of residence was not stated and cases in case-control studies. When multiple studies for the SNP-country combination were obtained, the frequencies were averaged for that country. For some SNPs, we observed up to 20% differences in prevalence between certain European countries. Moreover, in some cases, variability was observed also between studies from the same country, which most probably reflects the mixed origin of the individuals within the studied populations. As such, we propose a re-evaluation of the observed results on populations with confirmed country origin.

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