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Journal of Translational Medicine
Published in: Journal of Translational Medicine 1/2015

Open Access 01-12-2015 | Protocol

The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results

Authors: Cristian Pattaro, Martin Gögele, Deborah Mascalzoni, Roberto Melotti, Christine Schwienbacher, Alessandro De Grandi, Luisa Foco, Yuri D’Elia, Barbara Linder, Christian Fuchsberger, Cosetta Minelli, Clemens Egger, Lisa S. Kofink, Stefano Zanigni, Torsten Schäfer, Maurizio F. Facheris, Sigurður V. Smárason, Alessandra Rossini, Andrew A. Hicks, Helmuth Weiss, Peter P. Pramstaller

Published in: Journal of Translational Medicine | Issue 1/2015

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Abstract

The Cooperative Health Research In South Tyrol (CHRIS) study is a population-based study with a longitudinal lookout to investigate the genetic and molecular basis of age-related common chronic conditions and their interaction with life style and environment in the general population. All adults of the middle and upper Vinschgau/Val Venosta are invited, while 10,000 participants are anticipated by mid-2017. Family participation is encouraged for complete pedigree reconstruction and disease inheritance mapping. After a pilot study on the compliance with a paperless assessment mode, computer-assisted interviews have been implemented to screen for conditions of the cardiovascular, endocrine, metabolic, genitourinary, nervous, behavioral, and cognitive system. Fat intake, cardiac health, and tremor are assessed instrumentally. Nutrient intake, physical activity, and life-course smoking are measured semi-quantitatively. Participants are phenotyped for 73 blood and urine parameters and 60 aliquots per participant are biobanked (cryo-preserved urine, DNA, and whole and fractionated blood). Through liquid-chromatography mass-spectrometry analysis, metabolite profiling of the mitochondrial function is assessed. Samples are genotyped on 1 million variants with the Illumina HumanOmniExpressExome array and the first data release including 4570 fully phenotyped and genotyped samples is now available for analysis. Participants’ follow-up is foreseen 6 years after the first visit. The target population is characterized by long-term social stability and homogeneous environment which should both favor the identification of enriched genetic variants. The CHRIS cohort is a valuable resource to assess the contribution of genomics, metabolomics, and environmental factors to human health and disease. It is awaited that this will result in the identification of novel molecular targets for disease prevention and treatment.
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Metadata
Title
The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results
Authors
Cristian Pattaro
Martin Gögele
Deborah Mascalzoni
Roberto Melotti
Christine Schwienbacher
Alessandro De Grandi
Luisa Foco
Yuri D’Elia
Barbara Linder
Christian Fuchsberger
Cosetta Minelli
Clemens Egger
Lisa S. Kofink
Stefano Zanigni
Torsten Schäfer
Maurizio F. Facheris
Sigurður V. Smárason
Alessandra Rossini
Andrew A. Hicks
Helmuth Weiss
Peter P. Pramstaller
Publication date
01-12-2015
Publisher
BioMed Central
Published in
Journal of Translational Medicine / Issue 1/2015
Electronic ISSN: 1479-5876
DOI
https://doi.org/10.1186/s12967-015-0704-9

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