Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate.

ABSTRACT: Uric acid nephrolithiasis (UAN) is a common disease with an established genetic component that presents a complex mode of inheritance. While studying an ancient founder population in Talana, a village in Sardinia, we recently identified a susceptibility locus of approximately 2.5 cM for UAN on 10q21-q22 in a relatively small sample that was carefully selected through genealogical information. To refine the critical region and to identify the susceptibility gene, we extended our analysis to severely affected subjects from the same village. We confirm the involvement of this region in UAN through identical-by-descent sharing and autozygosity mapping, and we refine the critical region to an interval of approximately 67 kb associated with UAN by linkage-disequilibrium mapping. After inspecting

SUBMITTER: Gianfrancesco F 

PROVIDER: S-EPMC1180308 | biostudies-literature | 2003 Jun

REPOSITORIES: biostudies-literature