SLC26 Anion Transporter Gene Variants to Idiopathic Calcium Oxalate Urolithiasis
The goal of the study is to pilot test the collection of blood samples for DNA isolation from 100 patients presenting with idiopathic calcium urolithiasis (cases) and 100 patients with negative history and radiographically-confirmed absence of urolithiasis (controls).
Calcium Oxalate Urolithiasis
|Study Design:||Observational Model: Case Control
Time Perspective: Cross-Sectional
|Official Title:||Pilot Study to Evaluate the Contribution SLC26 Anion Transporter Gene Variants to Idiopathic Calcium Oxalate Urolithiasis in Humans|
|Study Start Date:||December 2009|
|Estimated Study Completion Date:||October 2014|
|Estimated Primary Completion Date:||October 2014 (Final data collection date for primary outcome measure)|
Idiopathic calcium oxalate urolithiasis affects 12% of men and 5% of women in the industrialized world. Familial aggregation patterns, and more recently, twin studies, have suggested a strong genetic basis. Recently, there has been an increasing appreciation of a family of anion transporters (Solute-Linked Carrier Family 26 or SLC26) with a capacity to transport oxalate. Indeed, published results from lab-based investigations support a role for variability in the activity of this family of anion transporters and level of oxalate in urine. The intriguing results from laboratory-based physiologic experiments not withstanding, to date there has been no attempt to directly evaluate the role of genetic variation in the SLC26 gene and risk of calcium oxalate urolithiasis. Motivated by this gap in the science, we ultimately seek to conduct a large, candidate gene case-control association study across two Mayo sites (Mayo Florida and Mayo Rochester).
|United States, Florida|
|Jacksonville, Florida, United States, 32224|
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|Principal Investigator:||William E Haley, MD||Mayo Clinic|