Publication describing the cohort:

1. Theodoraki EV, Nikopensius T, Suhorutsenko J, Peppes V, Fili P, Kolovou G, Papamikos V, Richter D, Zakopoulos N, Krjutskov K, Metspalu A, Dedoussis GV. Fibrinogen beta variants confer protection against coronary artery disease in a Greek case-control study. BMC Med Genet. 2010 Feb 18;11:28. doi: 10.1186/1471-2350-11-28.

Description:
The THISEAS study participants were recruited from 3 hospitals found in the area of Athens. Cases were subjects with a first-ever MI before age of 70 years presenting with either ACS or stable CAD defined as >50% stenosis in at least one of the three main coronary vessels assessed by coronary angiography. ACS was defined as acute MI or unstable angina corresponding to class III of the Braunwald classification. ACS patients have also undergone coronary angiography examination that verified the presence of significant stenosis. Controls were subjects age matched without MI/CAD history with negative coronary angiography findings (<30% stenosis), or negative stress test, or subjects without symptoms of disease that were admitted at the same hospitals as cases and were free of any cardiovascular disease, cancer, or inflammatory diseases. Subjects with renal or hepatic disease were excluded from both study groups.

Types of tissue available:
Blood for biochemical measurements as well as DNA and RNA isolation

Publications describing the cohort:

1. Visvikis-Siest S, Siest G. The STANISLAS Cohort: a 10-year follow-up of supposed healthy families. Gene-environment interactions, reference values and evaluation of biomarkers in prevention of cardiovascular diseases. Clin Chem Lab Med. 2008; 46(6):733–47.
2. Siest G, Visvikis S, Herbeth B, Gueguen R, Vincent-Viry M, Sass C, Beaud B, Lecomte E, Steinmetz J, Locuty J, Chevrier P. Objectives, design and recruitment of a familial and longitudinal cohort for studying gene-environment interactions in the field of cardiovascular risk: the Stanislas cohort. Clin Chem Lab Med. 1998 Jan;36(1):35-42.

Description:
Community-based population recruited in 1993-1995 (baseline, T0): 1006 families, supposed healthy and free from any declared acute and/or chronic disease. Inclusion criteria – Parents and grandparents of French origin – Residence in the Lorraine region (north-east of France) – Nuclear families comprising two parents and at least two biological children over 6 years old. Exclusion criteria – Chronic or acute disorders – Previous personal history of cardiovascular diseases. Data collected during medical visits every 5-years.

Types of tissue available:

• • EDTA plasma samples stored at -80°C
  • Extracted DNA stored at -80°C
  • Buffy coat stored at -80°C – PAXGENE blood and mRNA stored at -80°C
  • EDTA isolated Peripheral blood mononuclear cells (PBMCs) and corresponding mRNA stored at -80°C
  • Sodium heparinate isolated PBMCs extracts stored at -80°C

Publication describing the cohort:

1. Lind L, Fors N, Hall J, Marttala K, Stenborg A. A Comparison of Three Different Methods to Evaluate Endothelium- Dependent Vasodilation in the Elderly. The Prospective Investigation of the Vasculature in Uppsala Seniors (PIVUS) Study. Arterioscler Thromb Vasc Biol. 2005; 25:2368-75.

Description:

Community-based population randomly selected from the general population in the town of Uppsala, Sweden between April 2001 and June 2004: letter invitation in a randomised order (from the register of community living) within 2 months of their 70th birthday. Of the 2,025 subjects invited, 1,016 participated giving a participation rate of 50.1%. The primary aim of the PIVUS Study was to investigate the predictive power of different measurements of endothelial function and arterial compliance in subjects aged 70 living in the community of Uppsala. As secondary aims, the study also included measurements of cardiac function and structure by ultrasound and MRI, evaluation of atherosclerosis by ultrasound and MRI, 7 day food intake recordings, detailed ECG analysis, cardiovascular autonomic function, body composition by DXA, DNA analysis and lung function, as well as a number of biochemical markers.

Types of tissue collected: Serum stored at -80°C – Plasma stored at -80°C – Extracted DNA stored at -80°C

Web site for the cohort:

Publications describing the cohort:
Osteoporosis: ESTRADA K, MARC J, PREŽELJ J, MENCEJ BEDRAČ _S, et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genetics 2012, 44, 5: 491-501.
Osteoarthritis: ZUPAN J, VAN’T HOF RJ, VINDIŠAR F, HARING G, TREBŠE R, KOMADINA R, MARC J. Osteoarthritic versus osteoporotic bone and intra-skeletal variations in normal bone: Evaluation with [micro] CT and bone histomorphometry. Journal of orthopaedic research 2013, 31, 7: 1059-1066.
Cardio-vascular disease: MIRJANIĆ _AZARIĆ _B, VEKIĆ _J, ZELJKOVIĆ _A, JELIĆ-IVANOVIĆ _Z, DJERIĆ _M, MILIVOJAC T, PEČAR FONOVIĆ _U, MARC J, KOS J, ČERNE D, et al. Interrelated cathepsin S-lowering and LDL subclass profile improvements induced by atorvastatin in the plasma of stable angina patients. Journal of atherosclerosis and thrombosis 2014, 46, 15: 1526-1531.
Diabetes: MLINAR B, FERK P, PFEIFER M, GERŠAK K, MARC J. Lipin 1 gene polymorphisms in polycystic ovary syndrome. Hormone and Metabolic Research 2011, 43, 6: 427-432.

Description:
Healthy donors and 1. Patients with type 2 diabetes, 2. Patients with osteoarthritis, 3. Patients with osteoporosis
Types of tissue collected: 5mL of blood collected with EDTA.

ublications describing the cohort:

1. Siervo M, Ruggiero D, Sorice R, Nutile T, Aversano M, Stephan BC, Ciullo M. Angiogenesis and biomarkers of cardiovascular risk in adults with metabolic syndrome. J Intern Med. 2010 Oct; 268(4): 338-47.
2. Colonna, T. Nutile, M. Astore, O. Guardiola, G. Antoniol, M. Ciullo* and M.G. Persico. Campora: a young genetic isolate in South Italy. Hum Hered. 2007; 64,123-35
3. Colonna, T. Nutile, R.R. Ferrucci, G. Fardella, M. Aversano, G. Barbujani, M. Ciullo. Comparing population structure as inferred from genealogical versus genetic information Eur. J. Hum.Genetics 2009; 17, 1635-41

Description:
Cilento study is a population-based study that aims at identifying genetic risk factors for common diseases and traits. The sample includes isolated populations from three villages (Campora, Gioi and Cardile). These villages underwent a bottleneck due to the plague of the XVII century that reduced to a very few people these populations. We have demonstrated using genealogies and genetic data that these villages have all features of genetic isolates (Colonna et al. 2007; Colonna et al 2009). The overall sample size of individuals participating to the study is 2100. All inhabitants of the selected isolated populations are invited to participate to the study. The decision to participate is voluntary and it is first linked to the desire of the single person to participate to the study and then to the former approval of a parent (or a delegate) if this is needed. In both cases we explain clearly, with dedicated staff, using a clear and comprehensible language (a language that is related to cultural level and age of the individual) the objectives of the study. We do not accept participants that are not able to understand what is written into our “informed consent” form.

Types of tissue collected: Blood, plasma, serum

Publication describing the cohort:

1. Stolk RP, Rosmalen JG, Postma DS, de Boer RA, Navis G, Slaets JP, Ormel J, Wolffenbuttel BH.. Universal risk factors for multifactorial diseases LifeLines: a three-generation population-based study. Eur J Epidemiol. 2008;23(1):67-74.

Description:
Population-Based Healthy Subjects. LifeLines offer a national infrastructural resource, which contributes samples to a increasing number of various research projects. The LifeLines cohort study and Biobank, aims to determine common risk factors in multifactorial diseases. It includes detailed measurements of environmental factors, endophenotypes and genotypes of participants. LifeLines is a large observational study which consists of a three-generation cohort in the northern part of the Netherlands. Furthermore, it contains genetic data on the whole-genome that helps to analyse more advantageously the links between genetic predispositions and common complex diseases. Since Dec 2006, over 167,729 participants 0-93 years old have been included to the LifeLines cohort study. Out of 15,000 participants, whose genome wide genotyping has been performed, 4000 subjects will be included to this study. The outcomes and determinants of LifeLines are measured on face-to-face interview between participant and LifeLines trained assistant or physician. Participants are asked to fill a number of extended questionnaires, which include medical history with information about baseline factors, socioeconomic status, psychological status, environmental factors food frequency questionnaires, social and neuropsychiatric batteries, their medical history including diseases, using specific medication, family status. After that, vast number of different physiological quantitative traits is measured by using standardised protocols, and blood samples are taken to analyse biochemical indicators of different physiological domains.

Types of tissue collected: Blood, Plasma, Serum; Morning and 24h Urine; Feces, Scalp hair

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