The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait

Jürgen Floege,Antonio Amoroso,Klaus Zerres,Gian M Ghiggeri,Doroti Pirulli,Efstathios Alexopoulos,Luigi Bisceglia,Giovanni M Frascà,Dimitrios Kirmizis,Francesco Scolari,Giuseppina Cerullo,Diletta D Torres,Peter R Mertens,Marina Foramitti,Francesco P Schena,Leopoldo Zelante

doi:10.1186/1471-2369-6-14

Abstract

BackgroundIgA nephropathy (IgAN) or Berger's disease, is the most common glomerulonephritis in the world diagnosed in renal biopsied patients. The involvement of genetic factors in the pathogenesis of the IgAN is evidenced by ethnic and geographic variations in prevalence, familial clustering in isolated populations, familial aggregation and by the identification of a genetic linkage to locus IGAN1 mapped on 6q22–23. This study seems to imply a single major locus, but the hypothesis of multiple interacting loci or genetic heterogeneity cannot be ruled out. The organization of a multi-centre Biobank for the collection of biological samples and clinical data from IgAN patients and relatives is an important starting point for the identification of the disease susceptibility genes.DescriptionThe IgAN Consortium organized a Biobank, recruiting IgAN patients and relatives following a common protocol. A website was constructed to allow scientific information to be shared between partners and to divulge obtained data (URL: ). The electronic database, the core of the website includes data concerning the subjects enrolled. A search page gives open access to the database and allows groups of patients to be selected according to their clinical characteristics. DNA samples of IgAN patients and relatives belonging to 72 multiplex extended pedigrees were collected. Moreover, 159 trios (sons/daughters affected and healthy parents), 1068 patients with biopsy-proven IgAN and 1040 healthy subjects were included in the IgAN Consortium Biobank. Some valuable and statistically productive genetic studies have been launched within the 5th Framework Programme 1998–2002 of the European project No. QLG1-2000-00464 and preliminary data have been published in "Technology Marketplace" website: .ConclusionThe first world IgAN Biobank with a readily accessible database has been constituted. The knowledge gained from the study of Mendelian diseases has shown that the genetic dissection of a complex trait is more powerful when combined linkage-based, association-based, and sequence-based approaches are performed. This Biobank continuously expanded contains a sample size of adequately matched IgAN patients and healthy subjects, extended multiplex pedigrees, parent-child trios, thus permitting the combined genetic approaches with collaborative studies.

Highlights

IgA nephropathy (IgAN) or Berger's disease, is the most common glomerulonephritis in the world diagnosed in renal biopsied patients
IgAN may occur in a sporadic or a familial form according to the clinical evidence that one or more subjects belonging to the same family are affected by biopsy-proven IgAN [10,11,12]
The IgAN Consortium has set up a website to allow the partners to share the scientific information and for public dissemination of all the information related to the disease and new achieved data [17]

Summary

Introduction

IgA nephropathy (IgAN) or Berger's disease, is the most common glomerulonephritis in the world diagnosed in renal biopsied patients. The organization of a multi-centre Biobank for the collection of biological samples and clinical data from IgAN patients and relatives is an important starting point for the identification of the disease susceptibility genes. IgA nephropathy (IgAN) or Berger's disease is the most common glomerulonephritis worldwide in patients undergoing renal biopsy. Diagnosis is based on the occurrence of mesangial deposits of IgA in the glomeruli in the presence of recurrent episodes of intra-infectious macroscopic hematuria or persistent microscopic hematuria and/or proteinuria. The frequency of this disease is renal biopsy policy-dependent [1]. In Eastern countries, many young subjects with persistent microscopic hematuria and mild proteinuria often receive renal biopsy. Sub-clinical renal abnormalities are often evidenced among relatives of IgAN patients [9,11,13]

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