Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis. (Articolo in rivista) (literal)

Anno

• 2011-01-01T00:00:00+01:00 (literal)

Alternative label

• Tore S; Casula S; Casu G; Concas MP; Pistidda P; Persico I; Sassu A; Maestrale GB; Mele C; Caruso MR; Bonerba B; Usai P; Deiana I; Thornton T; Pirastu M; Forabosco P (2011)
  Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis.
  in PLOS genetics
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Tore S; Casula S; Casu G; Concas MP; Pistidda P; Persico I; Sassu A; Maestrale GB; Mele C; Caruso MR; Bonerba B; Usai P; Deiana I; Thornton T; Pirastu M; Forabosco P (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 7(1) (literal)

Rivista

• PLOS genetics (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1 Istituto di Genetica delle Popolazioni CNR, Sassari, Italy, 2 Shardna Life Sciences, Pula, Cagliari, Italy, 3 Istituto di Ricerche Farmacologiche Mario Negri, Centro di Ricerche Cliniche per le Malattie Rare 'Aldo e Cele Daccò', Ranica, Bergamo, Italy, 4 Unità Operativa Nefrologia e Dialisi Ospedali Riuniti di Bergamo, Bergamo, Italy, 5 Unità di Nefrologia Dialisi e Trapianto, Dipartimento dell'Emergenza e dei Trapianti d'Organo (DETO), Università degli Studi, Bari, Italy, 6 Clinica Urologica, Ospedale 'Santissima Trinità', Cagliari, Italy, 7 Dipartimento di Urologia, Ospedale Nostra Signora della Mercede, Lanusei, Italy, 8 Department of Biostatistics, University of Washington, Seattle, Washington, United States of America (literal)

Titolo

• Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis. (literal)

Abstract

• In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for uric acid nephrolithiasis. Our cohort of closely related individuals is derived from a small, genetically isolated village in Sardinia, with well-characterized genealogical data linking the extant population up to the 16(th) century. It is expected that the number of risk alleles involved in complex disorders is smaller in isolated founder populations than in more diverse populations, and the power to detect association with complex traits may be increased when related, homogeneous affected individuals are selected, as they are more likely to be enriched with and share specific risk variants than are unrelated, affected individuals from the general population. When related individuals are included in an association study, correlations among relatives must be accurately taken into account to ensure validity of the results. A recently proposed association method uses an empirical genotypic covariance matrix estimated from genome-screen data to allow for additional population structure and cryptic relatedness that may not be captured by the genealogical data. We apply the method to our data, and we also investigate the properties of the method, as well as other association methods, in our highly inbred population, as previous applications were to outbred samples. The more promising regions identified in our initial study in the genetic isolate were then further investigated in an independent sample collected from the Italian population. Among the loci that showed association in this study, we observed evidence of a possible involvement of the region encompassing the gene LRRC16A, already associated to serum uric acid levels in a large meta-analysis of 14 GWAS, suggesting that this locus might lead a pathway for uric acid metabolism that may be involved in gout as well as in nephrolithiasis. (literal)

Prodotto di

• Identificazione di geni-malattia mediante genotipizzazione ad alta densità di popolazioni. (SV.P18.001.002) (Modulo)
• Institute of population genetics (IGP) (Istituto)

Autore CNR

• STEFANIA CASULA (Persona)
• PAOLA MATILDE PISTIDDA (Unità di personale interno)
• MARIO PIRASTU (Unità di personale interno)
• GIUSEPPINA CASU (Persona)
• SILVIA TORE (Unità di personale esterno)
• IVANA PERSICO (Unità di personale interno)
• PAOLA FORABOSCO (Unità di personale interno)
• GIOVANNI BATTISTA MAESTRALE (Unità di personale interno)
• MARIA PINA CONCAS (Unità di personale esterno)

Insieme di parole chiave

• Parole chiave di "Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis." (Insieme di parole chiave)

Incoming links:

Autore CNR di

• MARIO PIRASTU (Unità di personale interno)
• PAOLA MATILDE PISTIDDA (Unità di personale interno)
• STEFANIA CASULA (Persona)
• GIUSEPPINA CASU (Persona)
• IVANA PERSICO (Unità di personale interno)
• PAOLA FORABOSCO (Unità di personale interno)
• GIOVANNI BATTISTA MAESTRALE (Unità di personale interno)
• MARIA PINA CONCAS (Unità di personale esterno)
• SILVIA TORE (Unità di personale esterno)

Prodotto

• Institute of population genetics (IGP) (Istituto)
• Identificazione di geni-malattia mediante genotipizzazione ad alta densità di popolazioni. (SV.P18.001.002) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• PLOS genetics (Rivista)

Insieme di parole chiave di

• Parole chiave di "Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis." (Insieme di parole chiave)