The Ogliastra Project is a large genetic and epidemiologic population-based study aiming at dissecting complex diseases and carried out in ten isolated villages of Ogliastra region, in eastern Sardinia. Ogliastra consists of 23 small villages with a mean number of inhabitants of about 1500, and with characteristics of genetic isolates. Key features of its population are ancient origins, few founders, a centenarian geographical isolation, a slow demographical growth with scarce immigration, high endogamy and consanguinity[1]. Study design has started as cross-sectional, but thanks to the great enthusiasm and collaboration of the population it evolved in a longitudinal one. Phase I of the epidemiological survey took place between December 2001 and October 2008, collecting data on 11189 people. Cohort recruitment was accomplished through information campaigns and letters sent to every family. Enrolled people, ranging in age from 2 to 104 years, first gave their informed consent and a blood sample for DNA extraction and determination of about 50 serological and haematological parameters. Subsequently, they underwent an extensive evaluation comprehensive of anthropometrical and blood pressure measurements, bioelectrical impedance for body composition assessment, and quantitative ultrasonography for bone mass screening. A structured interview was administered by trained physicians in order to collect socio-demographic data, living habits, exposure to most common risk factors, medical and medication history, information about familial disorders and a physical examination. Here we present results of prevalence studies on some of the pathologies investigated in the Ogliastra Project. Androgenetic alopecia was diagnosed taking grade II vertex of Norwood scale in men and grade III of Ludwig scale in women as cut-offs. Hypertensive status was determined applying the guidelines of European Society of Hypertension (systolic BP>140 mmHg, diastolic BP> 90 mmHg or antihypertensive treatment). The T-score threshold for Amplitude Dependent Speed of Sound of -3.2 SD was used to diagnose osteoporosis. Metabolic syndrome was defined in accordance with the National Cholesterol Education Program Adult Treatment Panel III criteria, while obesity was based on the World Health Organization definition (BMI ?30 kg/m2). In Ogliastra as a whole prevalence of androgenetic alopecia is 44.4% in men (I.C. 95%: 42.9% - 45.7%) and 1% in women (0.0% - 2.1%); hypertension prevalence is 43.5% in men (42.1% - 44.8%) and 34.3% in women (33.3% - 35.4%); osteoporosis prevalence is 17.1% in women (14.9% - 18.8%) and 5.5% in men (3.6% - 7.4%); finally metabolic syndrome prevalence is 19.6% (18.8% - 20.4%) and obesity prevalence is 16.4% (15.7% - 17.2%) in both men and women. Significant differences observed among some of the villages (fig. 1) may reflect different genetic background we intend to investigate.

The Ogliastra project: study design and epidemiological survey progression

G Biino;S Vaccargiu;
2009

Abstract

The Ogliastra Project is a large genetic and epidemiologic population-based study aiming at dissecting complex diseases and carried out in ten isolated villages of Ogliastra region, in eastern Sardinia. Ogliastra consists of 23 small villages with a mean number of inhabitants of about 1500, and with characteristics of genetic isolates. Key features of its population are ancient origins, few founders, a centenarian geographical isolation, a slow demographical growth with scarce immigration, high endogamy and consanguinity[1]. Study design has started as cross-sectional, but thanks to the great enthusiasm and collaboration of the population it evolved in a longitudinal one. Phase I of the epidemiological survey took place between December 2001 and October 2008, collecting data on 11189 people. Cohort recruitment was accomplished through information campaigns and letters sent to every family. Enrolled people, ranging in age from 2 to 104 years, first gave their informed consent and a blood sample for DNA extraction and determination of about 50 serological and haematological parameters. Subsequently, they underwent an extensive evaluation comprehensive of anthropometrical and blood pressure measurements, bioelectrical impedance for body composition assessment, and quantitative ultrasonography for bone mass screening. A structured interview was administered by trained physicians in order to collect socio-demographic data, living habits, exposure to most common risk factors, medical and medication history, information about familial disorders and a physical examination. Here we present results of prevalence studies on some of the pathologies investigated in the Ogliastra Project. Androgenetic alopecia was diagnosed taking grade II vertex of Norwood scale in men and grade III of Ludwig scale in women as cut-offs. Hypertensive status was determined applying the guidelines of European Society of Hypertension (systolic BP>140 mmHg, diastolic BP> 90 mmHg or antihypertensive treatment). The T-score threshold for Amplitude Dependent Speed of Sound of -3.2 SD was used to diagnose osteoporosis. Metabolic syndrome was defined in accordance with the National Cholesterol Education Program Adult Treatment Panel III criteria, while obesity was based on the World Health Organization definition (BMI ?30 kg/m2). In Ogliastra as a whole prevalence of androgenetic alopecia is 44.4% in men (I.C. 95%: 42.9% - 45.7%) and 1% in women (0.0% - 2.1%); hypertension prevalence is 43.5% in men (42.1% - 44.8%) and 34.3% in women (33.3% - 35.4%); osteoporosis prevalence is 17.1% in women (14.9% - 18.8%) and 5.5% in men (3.6% - 7.4%); finally metabolic syndrome prevalence is 19.6% (18.8% - 20.4%) and obesity prevalence is 16.4% (15.7% - 17.2%) in both men and women. Significant differences observed among some of the villages (fig. 1) may reflect different genetic background we intend to investigate.
2009
GENETICA DELLE POPOLAZIONI
Epidemiological survey
population-based
prevalence
complex diseases
genetic isolate
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/107420
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