engleski

ENDEMIC (BALKAN) NEPHROPATHY: GENE-ENVIRONMENT INTERACTIONS?

Endemic (Balkan) Nephropathy (EN) is a rare, chronic tubulointerstitial nephritis that gradually progresses to end stage renal disease. EN was first described 50 years ago in several small, discrete farming communities along the Danube River and it’ s major tributaries. The underlying etiology of EN is unknown, however, it is likely that interactions between genes and environmental factors are involved. Studies are currently underway in Croatia in collaboration with U.S. investigators to evaluate this hypothesis. Data for the study comes from a population-based survey conducted in 2005 that includes 1081 subjects from 3 endemic and 1 nonendemic village. Preliminary results show that exposure to Aristolochic Acid (AA) from dietary sources is associated with a nearly 2 fold increase in risk of EN (OR=1.79, p<0.05) and growing wheat is associated with a 3 fold risk (OR=3.58, p<0.05). Understanding the etiology of this chronic and debilitating disease is the first step in developing an effective prevention strategy. Power calculations indicate that a large sample will be required to evaluate specific candidate genes and interactions with exposure to AA. A multi-national collaboration and pooling of EN cases will be required to achieve an adequate sample size. However, a standard case definition of EN is also needed to facilitate genetic epidemiologic studies of EN. Discussion of case definition and impact on genetic epidemiologic studies are also discussed.

endemic nephropathy; genetics; environment; epidemiology

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