IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23
End-stage renal disease (ESRD) is a major public health problem, affecting 1 in 1,000 individuals and with an annual death rate of 20% despite dialysis treatment. IgA nephropathy (IgAN) is the most common form of glomerulonephritis, a principal cause of ESRD worldwide; it affects up to 1.3% of the p...
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Veröffentlicht in: | Nature genetics 2000-11, Vol.26 (3), p.354-357 |
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Zusammenfassung: | End-stage renal disease (ESRD) is a major public health problem, affecting
1 in 1,000 individuals and with an annual death rate of 20% despite dialysis
treatment. IgA nephropathy (IgAN) is the most common form
of glomerulonephritis, a principal cause of ESRD worldwide;
it affects up to 1.3% of the population and its pathogenesis
is unknown. Kidneys of people with IgAN show deposits of IgA-containing immune
complexes with proliferation of the glomerular mesangium (Fig. 1). Typical clinical features include onset before age 40 with
haematuria and proteinuria (blood and protein in the urine), and episodes
of gross haematuria following mucosal infections are common; 30% of patients
develop progressive renal failure. Although not generally
considered a hereditary disease, striking ethnic variation in prevalence and familial clustering,
along with subclinical renal abnormalities among relatives of IgAN cases, have suggested a heretofore undefined genetic component.
By genome-wide analysis of linkage in 30 multiplex IgAN kindreds, we demonstrate
linkage of IgAN to 6q22-23 under a dominant model of transmission with
incomplete penetrance, with a lod score of 5.6 and 60% of kindreds linked.
These findings for the first time indicate the existence of a locus with large
effect on development of IgAN and identify the chromosomal location of this
disease gene. |
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ISSN: | 1061-4036 1546-1718 |
DOI: | 10.1038/81677 |