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Development of a genomic dna bank of iga nephropathy (igan) patients and family members. new trends in genetics for the early diagnosis of familial igan

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Offering new tools against Berger's disease

Berger's disease or IgA nephropathy (IgAN) is the most common form of glomerulonephritis worldwide, based on an auto-immune response facilitated by the expression of T helper (Th) lymphocytes and increased cytokine levels. Mapping the possible genetic loci linked to this form of kidney disease is expected to aid early diagnosis and improve the prognosis for IgAN patients.

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The role of genetic factors in the onset of pathogenesis has not been fully determined, however, there are indications of strong genetic involvement. The IGAN Consortium project created the first and only DNA biobank of IgAN based on samples from patients and their families in three EU regions, namely Germany, Greece and Italy.The Consortium created a website (www.igan.net) to aid data collection and dissemination across its members. Over 35 families were included in the process as well as 1028 sporadic IgAN patients and 1040 healthy subjects. The collected data were then used for further genetic studies and analysis.Researchers concentrated on specific gene polymorphisms (variations) involved in the production of cytokines. A number of polymorphisms were analysed and multi-allelic analysis revealed a link between the IFNg polymorphisms and susceptibility to IgAN. Out of the seven potential variations of the gene, one (the 13-CA repeat allele) was thought to be implicated in IgAN pathogenesis.The creation of IgAN DNA biobank has provided researchers with new tools for the study into the genetic factors implicated in IgAN. The emerging knowledge could be use to develop accurate diagnostic kits and could have implications for the long-term management of the condition.

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