Genome wide screen in Sardinian genetic isolates identifies two genomic regions linked to androgenetic alopecia (Abstract/Poster in atti di convegno)

Type
Label
  • Genome wide screen in Sardinian genetic isolates identifies two genomic regions linked to androgenetic alopecia (Abstract/Poster in atti di convegno) (literal)
Anno
  • 2004-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1111/j.1468-3083.2004.01152.x (literal)
Alternative label
  • MA Palmas, M Adamo, A Sassu, G Biino, R Piras, G Mancosu, P Ledda, L Atzori, A Angius, M Pirastu. (2004)
    Genome wide screen in Sardinian genetic isolates identifies two genomic regions linked to androgenetic alopecia
    in 13th Congress of The European Academy of Dermatology and Venerology, Firenze, 17-21 Novembre 2004
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • MA Palmas, M Adamo, A Sassu, G Biino, R Piras, G Mancosu, P Ledda, L Atzori, A Angius, M Pirastu. (literal)
Pagina inizio
  • 323 (literal)
Pagina fine
  • 323 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://onlinelibrary.wiley.com/doi/10.1111/j.1468-3083.2004.01152.x/pdf (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 18 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 1 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • s2 (literal)
Note
  • Abstract (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Shardna LifeSciences, Cagliari; Inst. of Population Genetics, CNR, Alghero (SS); Dermatology Department., Univ. of Cagliari, Italy (literal)
Titolo
  • Genome wide screen in Sardinian genetic isolates identifies two genomic regions linked to androgenetic alopecia (literal)
Abstract
  • Androgenetic alopecia (AGA), the most common form of alopecia in men, is a complex disorder with a strong genetic component. The most probable hypothesis is that polygenic AGA predisposition is modulated by hormonal factors, but the underlying genetic variants are unknown. The aim of this study was to find AGA susceptibility genomic regions by a linkage analysis. Our study was conducted in two villages, Talana and Perdasdefogu, of the Ogliastra, a remote region in eastern Sardinia. These villages have undergone a distinct demographic history, with high endogamy and low immigration, and manifest different genetic pools due to a distinctive founder effect, as revealed by mitochondrial and Y chromosome analysis. For these reasons these populations are ideal to facilitate gene mapping of complex disease such as AGA. Based on church archival records, we could reconstruct the entire genealogy of the villages for the last four hundred years. A clinical survey conducted on these communities showed an high prevalence of AGA cases clustered in families. All volunteers underwent a dermatologic examination, with diagnosis according to the Norwood-Hamilton and Ludwig scales. Using genealogical information and starting to Talana, we reconstructed extended pedigrees for linkage analysis. We performed a genome-wide search (GWS) of 300 individuals including 86 affecteds and their relatives, using 650 multi-allelic genetic markers, spanning the genome at an average interval of about 7 centimorgan (cM). Parametric and non parametric linkage analysis were calculated by LINKAGE and SIMWALK using an affected-only approach. We found two loci in linkage with the disease (p<0.05). To confirm these positive results we added additional markers in the genomic regions of interest. Further statistical analysis confirmed the original results. To replicate these data in a different genetic isolate, we selected affected individuals in a multigeneration extended pedigree from Perdasdefogu containing 66 affecteds and their relatives with several markers located in one of the loci previously found in Talana. Linkage analysis confirmed in this population the presence of this locus (p<0.05). The replication of the second locus is in progress. (literal)
Editore
Prodotto di
Autore CNR

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
Editore di
data.CNR.it