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Genetics of kidney disease
1Department of Biochemistry, and Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157, USA. dbowden@wfubmc.edu
Kidney International. Supplement
|July 17, 2003
Summary
Genetic factors significantly influence end-stage renal disease (ESRD) susceptibility. Genome scans offer a promising approach to identify novel genes contributing to ESRD, overcoming limitations of candidate gene studies.
Area of Science:
- Nephrology
- Genetics
- Genomics
Background:
- Familial aggregation, population incidence rates, and segregation analysis indicate a substantial genetic contribution to end-stage renal disease (ESRD) susceptibility.
- Previous research focused on "candidate genes" with functions related to kidney disease, but yielded frequently contradictory results, likely due to modest individual gene effects.
Purpose of the Study:
- To explore novel genetic factors contributing to end-stage renal disease (ESRD) susceptibility.
- To evaluate the utility of genome-wide approaches in identifying previously unrecognized genes involved in renal pathogenesis.
Main Methods:
- Review of evidence from familial aggregation, population comparisons, and segregation analyses.
- Assessment of candidate gene studies and their limitations.
- Introduction of the genome scan approach for comprehensive genomic evaluation.
Main Results:
- Candidate gene studies have produced inconsistent findings regarding their contribution to ESRD genetic susceptibility.
- Genome scans provide a powerful tool to identify chromosomal regions containing novel genes implicated in renal disease.
Conclusions:
- Genome-wide scans hold significant promise for a more comprehensive understanding of the genetic architecture of end-stage renal disease.
- Emerging results from whole genome scans in family collections suggest a future with abundant data for evaluating genetic contributions to ESRD.