ESRD is a major health problem in the United States with an incidence that has been steadily increasing over the last 10 years. More than 705 of ESRD is associated with either diabetes mellitus and/or hypertension. Community-based epidemiologic studies indicate that there is an increased susceptibility to end-stage renal disease (ESRD) among family members of patients with ESRD, suggesting that either genetic or environmental factors or a combination of both predispose to renal disease in some families. While numerous studies indicate a large familial component in the majority of cases of ESRD, no specific genes have been identified. We propose collecting family history and medical data from affected relative pairs and families with ESRD to identify genetic risk factors for ESRD. The sample in the study area has approximately a 50:50 ratio of African-Americans and Caucasians. We intend to collect data from both groups to evaluate racial differences in susceptibility to ESRD. Patients will be stratified by age-at-onset, comorbid phenotypes and the role of progression from chronic renal failure to end stage renal disease will be examined.
The specific aims of this project entail: 1) screen patients from dialysis and transplant centers and identify patients with a positive family history of ESRD. 2) recruit probands (the patient who brought the family into the study) with a positive family history of ESRD and their relatives into a study for genetic susceptibility to ESRD. 3) collect extensive phenotype data on probands, relative pairs and families with ESRD. 4) apply molecular and statistical genetic methods to identify genomic regions and loci involved in ESRD. Information is collected via questionnaires and review of medical records on how long the subject has progressed over time. A 30 ml blood sample will be drawn.""""""""
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