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Functional role of candidate genes emerging from GWAS in diabetic nephropathy
Summary Data Summary
Applicant Godson, Catherine
E-Mail Address catherine.godson@ucd.ie
Project Title Functional role of candidate genes emerging from GWAS in diabetic nephropathy
CBU ID 12GHSU193
External SubContract ID 25034-19
Diabetic Complication Nephropathy
Funding Program Group Pilot & Feasibility [PF2012]
Abstract Diabetic nephropathy (DN) is the leading cause of end-stage renal disease (ESRD)
worldwide. Although tight control of blood sugar can decrease the risk of
diabetic kidney disease, many patients with adequate control develop DN, while
others remain complication-free despite poor glycaemic control. Family studies
point to a strong role for inherited factors in the development of DN, but the
relevant genetic variants remain unknown, limiting our understanding of this
devastating complication. Our long term goal is to discover the genetic factors
that influence the risk of DN, with the hope that improved understanding of the
disease will identify novel biological targets for therapeutic and preventive
intervention. The Genetics of Nephropathy – an International Effort (GENIE)
Consortium have recently completed the largest genome wide association study
(GWAS) to date and meta-analysis of type 1 DN and ESRD. This Pilot application
has two aims: Aim1 - To investigate the functional relevance of candidate genes
from the GENIE GWAS: ERBB4 - encoding an epidermal growth factor receptor
subfamily member; and AFF3 - an AFF transcription factor and type 1 diabetes
candidate gene. Our preliminary data from renal cell models and expression
analysis suggest a potentially important role for both of these genes in DN. We
will investigate the putative role of these genes by either overexpressing or
repressing levels in cell models that we have previously shown to mimic
important aspects of the pathology of DN. These data will inform further
investigations of differential gene expression and regulatory netwoks which may
be awry in DN. Aim 2 – To investigate the FRMD3/rs1888747 variant previously
reported to be associated with DN. Recent data from our collaborators suggest
that FRMD3 gene expression is dysregulated in DN, potentially due to the
rs1888747 promoter variant. We will investigate the impact of this variant on
FRMD3 function in our established cellular models of DN. In summary, we aim to
interrogate the emerging GWAS data, and investigate the underlying biological
signature.
Application PDF Application Research Plan
Status Contract Executed
Key Personnel
Salary Total Costs 0
Supply Total Costs 50700
Equipment Total Costs 0
Travel/Other Total Costs 4500
Direct Costs 55200
Indirect Costs Proposed 4416
Total Costs Proposed 59616
Total Costs Approved 59616
Start Date 1/1/2013
End Date 12/31/2013
IFO Name Doolan, Donal
IFO E-Mail Address donal.doolan@ucd.ie
IACUC/IRB No. 999999
IACUC/IRB Institution
Entity ID No.
Report Request Date 1/1/3000
T1D NO
TypeCount
Invoices 1
Progress Reports 1
Data Submission


Invoices
UrlCBU IDExternal IDInstitutionDateDirectIndirectInvoiceBalancePDF
  View  12GHSU19325034-19 7/31/2015$43,143.70-$43,143.70$16,472.30View PDF


Reports
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