The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results
Author(s)
Type
Journal Article
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.
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.
Date Issued
2015-11-05
Date Acceptance
2015-10-20
Citation
Journal of Translational Medicine, 2015, 13
ISSN
1479-5876
Publisher
BioMed Central
Journal / Book Title
Journal of Translational Medicine
Volume
13
Copyright Statement
© 2015 Pattaro et al. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License
(http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium,
provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/
publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
(http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium,
provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/
publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
License URL
Subjects
Science & Technology
Life Sciences & Biomedicine
Medicine, Research & Experimental
Research & Experimental Medicine
HEART-RATE-VARIABILITY
METABOLIC SYNDROME
CARDIOVASCULAR-DISEASE
ISOLATED POPULATION
BEHAVIOR DISORDER
PREVALENCE
QUESTIONNAIRE
PATTERNS
EUROPE
VALIDATION
Publication Status
Published
Article Number
348