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SLC26 Anion Transporter Gene Variants to Idiopathic Calcium Oxalate Urolithiasis

16:07 EDT 24th April 2014 | BioPortfolio

Summary

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).

Description

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).

Study Design

Observational Model: Case Control, Time Perspective: Cross-Sectional

Conditions

Kidney Stones

Location

Mayo Clinic
Jacksonville
Florida
United States
32224

Status

Enrolling by invitation

Source

Mayo Clinic

Results (where available)

View Results

Links

Medical and Biotech [MESH] Definitions

Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE.

A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES.

Stones in the URETER that are formed in the KIDNEY. They are rarely more than 5 mm in diameter for larger renal stones cannot enter ureters. They are often lodged at the ureteral narrowing and can cause excruciating renal colic.

A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES.

Formation of stones in the KIDNEY.

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