Abstract: IgA nephropathy (IgAN) or Bergers disease is the most common glomerulonephritis in the world diagnosed in patients undergoing renal biopsy. The involvement of genetic factors on the pathogenesis of the IgAN is evidenced by ethnic and geographic variation in prevalence, familial clustering in isolated populations, familial aggregation and more recently by the identification of a genetic linkage to one locus (IGAN1) mapped on 6q22-23. Although such a study seems to imply a single major locus, the hypothesis of multiple interacting loci or genetic heterogeneity cannot be ruled out.
A group of European scientists, specialists in this disease, constituted an IgAN Consortium and organized a DNA Biobank through the recruitment of IgAN patients and family members following a common protocol. The main aim of the project was to constitute a genomic DNA bank of well-characterized IgAN patients and their family members belonging to three different geographic areas of Europe (Germany, Greece and Italy) to be used for genetic studies. A web-site (http://www.igan.net) was organized to collect personal data and clinical findings of all subjects enrolled in the study. Data collected were available by appropriate passwords to all partners respecting the subjects privacy. DNA samples of IgAN patients and family members belonging to 71 multiplex extended pedigrees were collected. Thirty-five families with <10 members, 21 with 10-20 members and 15 families with >20 members were enrolled. For each family, all the first-degree relatives were enrolled. Moreover, 158 trios (sons /daughters affected and healthy parents), 1028 sporadic IgAN patients, and 1040 healthy subjects were included in the IgAN Consortium Biobank.
The strategy used by the IgAN Consortium is to perform genetic studies separately in an homogeneous population belonging to a restricted area and only in case of interesting results to offer the possibility to check for the same data in the others. DNA samples from patients, family members and an adequate number of healthy subjects of different European geographic areas have been collected. This organization could be highly representative of the IgAN genetic background. The focus of the IgAN Biobank is molecular genetics research and identification of disease susceptibility genes. The knowledge gained from the study of Mendelian diseases has shown that the genetic dissection of complex trait is more powerful when combined linkage-based, association-based, and sequence-based approaches are performed.
This is the first and unique DNA bank of IgA Nephropathy in the world. The policy of the IgAN Consortium which is responsable of the Biobank is to offer different chances of collaboration as follows:
- To be member of the IgAN Consortium by collecting DNA samples of the IgAN patients and families members in according to estabilished protocol which is available in the Consortium website (http://www.igan.net);
- To be a researcher of the Consortium after submission of a designed scientific project which will be analysed by the partners of the Consortium;
- To collaborate with other scientists in multi-centres genetic or clinical studies.
The genomic DNA bank is based on an electronic database (IgAN Registry-database), which contains the images of the familial IgAN pedigrees, clinical findings and laboratory data of patients and family members enrolled in the studies and the continuous updating of clinical patient status.
Subject Descriptors: Anatomy; Genetics; Medicine; Occupational health
Subject Index Codes: Medicine, Health; Life Sciences
Market Applications: Health monitoring, care
Stage Description: Development of IgA Nephropathy (IgAN) Biobank.
Collaboration Sought: Further research or development support; Joint venture agreement; Information exchange/Training; Venture capital/spin-off funding; Private-public partnership; Available for consultancy
Collaboration Detail: Additional partners involved in the genetic studies of IgA Nephropathy are welcome. They should contribute to the collection of other DNA samples from patients and family members.