Genetic studies of IgA nephropathy: Past, present, and future

Krzysztof Kiryluk, Bruce A. Julian, Robert J. Wyatt, Francesco Scolari, Hong Zhang, Jan Novak, Ali G. Gharavi

Research output: Contribution to journalReview articlepeer-review

74 Scopus citations


Immunoglobulin A nephropathy (IgAN) is the most common form of primary glomerulonephritis worldwide and an important cause of kidney disease in young adults. Highly variable clinical presentation and outcome of IgAN suggest that this diagnosis may encompass multiple subsets of disease that are not distinguishable by currently available clinical tools. Marked differences in disease prevalence between individuals of European, Asian, and African ancestry suggest the existence of susceptibility genes that are present at variable frequencies in these populations. Familial forms of IgAN have also been reported throughout the world but are probably underrecognized because associated urinary abnormalities are often intermittent in affected family members. Of the many pathogenic mechanisms reported, defects in IgA1 glycosylation that lead to formation of immune complexes have been consistently demonstrated. Recent data indicates that these IgA1 glycosylation defects are inherited and constitute a heritable risk factor for IgAN. Because of the complex genetic architecture of IgAN, the efforts to map disease susceptibility genes have been difficult, and no causative mutations have yet been identified. Linkage-based approaches have been hindered by disease heterogeneity and lack of a reliable noninvasive diagnostic test for screening family members at risk of IgAN. Many candidate-gene association studies have been published, but most suffer from small sample size and methodological problems, and none of the results have been convincingly validated. New genomic approaches, including genome-wide association studies currently under way, offer promising tools for elucidating the genetic basis of IgAN.

Original languageEnglish
Pages (from-to)2257-2268
Number of pages12
JournalPediatric Nephrology
Issue number11
StatePublished - Nov 2010
Externally publishedYes


  • Genetics
  • Genome-wide association study
  • Hereditary disease
  • IgA nephropathy
  • IgA1 glycosylation


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