GENETICS OF CARDIOVASCULAR DISEASE RISK PHENOTYPES AND METABOLIC DISEASE TRAITS IN PARSIS IN
Description of the study:
The proposed study is a population-based genetic epidemiological study aimed at identifying genes that are influencing complex diseases such a cardiovascular disease (CVD), obesity, diabetes, etc., in the Parsi community in Western India. The study will also help identify some of the other genes that are influencing diseases that are common in this community. Localizing the specific genes can help identify the relevant functional mutations and their contribution towards the disease prevalence in family members.
Background and Rationale:
Several studies in recent years have identified numerous risk factors for CVD. Such risk factors include complex diseases such as obesity, diabetes, hypertension, etc. These studies have shown the important role that genes play in the development and progression of CVD. With the latest technological advances in both statistical and molecular genetics, it is possible to estimate to detect and localize genes that influence disease risk.
Purpose of the study:
To investigate phenotypic traits related to cardiovascular disease from a genetic perspective, using techniques in molecular and statistical genetics, in the Parsi community residing in states of Maharashtra and Gujarat, India. The specific aims would be a) to obtain an anthropometric, biochemical, hemodynamic, metabolic and genetic database on 2,000 individuals aggregated in families; b) to identify potential susceptible chromosomal loci which predispose the development of complex diseases; c) to determine what gene(s) are harbored by such loci that exert predisposition to the appearance of complex diseases and its metabolic abnormalities.
About Southwest Foundation for Biomedical Research
The Southwest Foundation for Biomedical Research (SFBR) is one of the leading independent biomedical research institutions in the United States. It is recognized within scientific and academic communities worldwide for the quality of its basic research into the nature, causes, prevention and eradication of disease. SFBR's staff of more than 65 doctoral-level scientists conducts nearly 180 research projects, with marked success in the areas of genetics, neonatal development, and infectious and metabolic diseases.
The proposed study will be conducted under the direction and overall supervision of Dr. Anthony Comuzzie, Scientist, in the Department of Genetics at SFBR. A research team at SFBR will conduct data base management, genotyping, sequencing, gene expression, and statistical genetic analyses and will serve as the overall project coordinating center.
SFBR experience with similar studies
The San Antonio Family Heart Study (SAFHS): SAFHS is an ongoing research project being conducted in collaboration with the University of Texas Heath Science Center at San Antonio (UTHSCSA): SAFHS is the first and the largest extended family based genetic study focusing on identifying the genes related to risk of complex diseases in Mexican- Americans. The primary aim of this study is to identify and map the genes that influence the traits related to the risk of CVD. This ongoing study was started in 1991 and more than 2000 individuals from the Mexican-American population have been recruited since then. Advanced molecular and statistical techniques have been used to identify the relevant chromsomal regions Several significant chromosomal regions influencing the CVD risk gave been identified and the findings have been published in well known peer reviewed scientific journals.
Genetics of Coronary Artery Disease in Alaska Natives (GOCADAN): GOCADAN study is being conducted in colloboration with Norton Sound Health Corporation, Nome, Alaska, USA. It an ongoing study of genetics of CVD in Eskimos from the Norton Sound region in Western part of Alaska, USA. It aims to localize genes influencing CVD and its risk factors and identify the functional mutations that might be responsable for the disease risk. Data from phase1 have shown all the cardiovascular risk factors to be heritable and pointed to some interesting chromosomal regions affecting the CVD phenotypes. Phase 2 will proceed further and identify the mutations.
Viva La Familia Study: Viva La Familia Study is an ongoing study be conducted in colloboration with Baylor College of Medicine, Houston, Texas, USA. This study is designed to map and identify genes influencing obesity among obese and overweight Hispanic children living in and around Houston, Texas, USA. This ongoing study has already shown signficiant genetic component in several obesity related traits.
Hypertension and Metabolic Syndrome Study in Oman: This ongoing study is being conducted in collaboration Sultan Qaboos University, Oman. This study aims to identify the genes influencing hypertension and metabolic syndrome in the Omani community of Nizwa, Oman.
Benefits of the proposed study:
The primary benefit of the proposed study is the evaluation and understanding of the various patterns and age-related changes over generations (at least three generations) of the risk of CVD, diabetes, obesity and other complex diseases. Identification of genes related to these complex diseases will help in identifying the relevant functional mutations and ultimately help in understanding the contribution of these genes to susceptibility towards a particular disease in family members.
In addition, the study will help assess and evaluate the influence of regional environments, life style and admixture (if any) on the genetic component of the phenotypes related to complex diseases.
This study will also help create a comprehensive genomic database of the Parsi community that will include information related to various traits, socio-demographics, dietary intakes, health history, and genetic background.
Individuals participating in this study will receive free medical and physical examinations.
For more information, please contact:
V. Saroja Voruganti, Ph.D
Department of Genetics
Southwest Foundation for Biomedical Research
Mail: P.O. Box 760549
San Antonio, TX, 78245-0549
Phone: (210) 258-9795;
