Tore, Silvia (2009) Genetica della calcolosi renale: studio multidisciplinare di un isolato genetico dell'Ogliastra. Doctoral Thesis.
Nephrolithiasis is a common multifactorial disorder of complex aetiology, characterized by the presence of stones in the urinary tract. In the socio-economically more advanced nations the prevalence of urinary calculi varies between 4% and 10% of the adult population. In the present study, we performed a genome-wide screen based on a sample of kidney stones formers, from a isolated Sardinian population (Talana village) characterized by an increased prevalence of nephrolithiasis. Complete genealogical information up to the 17th century is available for each extant individual of Talana and is stored in a database framework. 78 patients and 98 control subjects, examined by ultrasonography to exclude asymptomatic cases, were collected. From the initial sample of 78 cases, we extracted, using a maximum-clique based algorithm, 11 pedigrees with 49 affected. We performed a GWS nonparametric linkage analysis for 900 STRs and 16000 SNPs, using Merlin computer program. Moreover association analysis is performed, on the whole sample of related cases and controls, using two set of 50 000 and 500 000 SNPs distributed over the autosomes, with the program CC-QLS, that calculates a quasi-likelihood score taking into account known relationships among cases and controls. Suggestive association with the pathology has been found. Our results show three new genes with possible implication on nephrolithiasis.
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