Metallothionein polymorphisms and trace elements in Slovenian mother-child pairs (CROME-LIFE+ and HEALS study)

author: Anja Stajnko, Department of Environmental Sciences, Jožef Stefan Institute
published: May 23, 2017,   recorded: April 2017,   views: 887


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Methallothioneins (MT) are metal(loids) binding proteins characterised by low molecular weight (6-7 kDa), high cysteine content (30%) and high metal affinity [1]. They have several roles in physiological system, especially in metal(loid)s homeostasis and detoxification and cellular oxidative stress protection [1,2]. Human methallothioneins are coded by at least 11 functionally active genes that are located on chromosome 16 and single nucleotide polymorphisms (SNPs) in these genes, could modify proteins functions [3,4]. In present study the data from 178 non-occupationally exposed Slovenian mother-child pairs (mothers: mean age = 38.6 years; child: 7-8 years, 50% females, 2016) was used to estimate possible associations between genotypes of various selected SNPs in MT genes (MT1a, MT1b, MT1e, MT1f, MT1g, MT1x; MT2a; MT3; MT4) and trace elements (Hg, As, Pb, Cd, Zn, Cu, Mn, Se). DNA was extracted from venous blood and used for SNP genotypisation by pre-designed TaqMan® assays (Applied Biosystems, USA) and quantitative real time PCR (qPCR), while the concentrations of trace elements were determined in blood and urine samples using an inductive-coupled plasma mass spectrometry (ICP-MS). Obtained significant associations between genotypes and trace elements were further tested by multiple linear regression models for possible confounders (age, gender, body mass index, education, current or past smoking, food consumption, essential element status etc.).

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