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Int J Mol Epidemiol Genet 2011;2(3):207-216

Original Article
Using blood gene signatures for assessing effects of exposure to
perfluoroalkyl acids (PFAAs) in humans: the NOWAC postgenome study

Charlotta Rylander, Vanessa Dumeaux, Karina Standahl Olsen, Marit Waaseth, Torkjel M Sandanger, Eiliv Lund

Department of Community medicine, University of Tromsø, 9037 Tromsø, Norway; Norwegian Institute for Air Research, Fram
Research Centre, 9296 Tromsø, Norway; Department of Pharmacy, University of Tromsø, 9037 Tromsø, Norway.

Received April 15, 2011; accepted May 21, 2011; Epub June 3, 2011; published August 30, 2011

Abstract: Perfluoroalkyl acids (PFAAs) are ubiquitously present in human blood samples and the effects of these compounds
on human health are not fully characterized. This study was conducted in order to investigate the applicability of peripheral
blood gene expressions for exploring the impact of perfluorooctane sulfonate (PFOS), perfluorooctanoate (PFOA) and
perfluorohexane sulfonate (PFHxS) exposure on the general population. PFOS, PFOA and PFHxS were analyzed in blood
samples from a representative group of 270 healthy, postmenopausal Norwegian women (48-62 years). Gene expression was
measured in the same samples using the Applied Biosystems microarray platform. Forty-eight different gene sets, all
previously linked to PFAA exposure were explored in relation to the selected PFAAs. Two gene sets, both related to the citric
acid cycle, were differentially expressed between the “PFOS high” (>30ng/ml, n=42) and the “PFOS low” (<30ng/ml, n=228)
group. Based on the results of this study we believe that blood gene signatures have a large potential for elucidating which
biological pathways are being affected by environmental pollutants. To the best of our knowledge, this study is the first
assessment of the impact of PFAAs on blood gene expressions in humans from the general population. (IJMEG1104001).

Key words: PFOS, gene expression, PFAA, peripheral blood, pollutants

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Address all correspondence to:
Charlotta Rylander, PhD
Department of Community Medicine
University of Tromsø
9037 Tromsø
Phone: +4741643404
Fax: +4777750376
E-mail: charlotta.rylander@uit.no