The genetics of HIV resistance in exposed uninfected Haemophilia A patients: an update on the CHAVI 014 protocol
Détails
ID Serval
serval:BIB_AA3291010694
Type
Actes de conférence (partie): contribution originale à la littérature scientifique, publiée à l'occasion de conférences scientifiques, dans un ouvrage de compte-rendu (proceedings), ou dans l'édition spéciale d'un journal reconnu (conference proceedings).
Sous-type
Abstract (résumé de présentation): article court qui reprend les éléments essentiels présentés à l'occasion d'une conférence scientifique dans un poster ou lors d'une intervention orale.
Collection
Publications
Institution
Titre
The genetics of HIV resistance in exposed uninfected Haemophilia A patients: an update on the CHAVI 014 protocol
Titre de la conférence
EAHAD 2010, 3rd Annual Congress of the European Association for Haemophilia and Allied Disorders
Adresse
Edinburgh, Scotland, February 3-5, 2010
ISSN-L
1351-8216
Statut éditorial
Publié
Date de publication
2010
Volume
16
Série
Haemophilia
Pages
404
Langue
anglais
Notes
Publication type : Meeting Abstract
Résumé
The CHAVI 014 protocol was established to create a
cohort of 800 moderate to severe haemophilia A
patients that were treated with FVIII concentrate
between 1979 and 1984 and have a documented HIV
negative test. Using this highly HIV exposed cohort,
the genetics of HIV resistance is being studied by
using two genetic approaches 1) a genome-wide
association study (GWAS) and 2) whole-genome
sequencing. Recruitment for this multi-centre GWAS
started in the UK in October 2008 and currently 13
sites across Europe and 17 sites across the USA are
actively recruiting. To date, nearly 300 subjects have
been recruited (Europe 222, USA 70-100). The
GWAS is being performed using the Illumina 1M
duo genotyping BeadChip which interogates over 1
million single nucleotide variants across the genome.
The whole-genome sequencing is being performed
using the Illumina Genome Analyzer. All samples are
assayed for CCR5delta32 status. We have run a
preliminary GWAS consisting of 300 hemophilia
samples compared to 600 HIV positive individuals.
Not surprisingly, this preliminary underpowered
analysis did not result in any variant that was
genome-wide significant. We have also fully sequenced
30 hemophilia A patients. An overview of
our sequencing approach along with preliminary
data will be provided. In addition, a list of identified
FVIII mutations and a breakdown of CCR5delta32
frequencies by country will be presented.
cohort of 800 moderate to severe haemophilia A
patients that were treated with FVIII concentrate
between 1979 and 1984 and have a documented HIV
negative test. Using this highly HIV exposed cohort,
the genetics of HIV resistance is being studied by
using two genetic approaches 1) a genome-wide
association study (GWAS) and 2) whole-genome
sequencing. Recruitment for this multi-centre GWAS
started in the UK in October 2008 and currently 13
sites across Europe and 17 sites across the USA are
actively recruiting. To date, nearly 300 subjects have
been recruited (Europe 222, USA 70-100). The
GWAS is being performed using the Illumina 1M
duo genotyping BeadChip which interogates over 1
million single nucleotide variants across the genome.
The whole-genome sequencing is being performed
using the Illumina Genome Analyzer. All samples are
assayed for CCR5delta32 status. We have run a
preliminary GWAS consisting of 300 hemophilia
samples compared to 600 HIV positive individuals.
Not surprisingly, this preliminary underpowered
analysis did not result in any variant that was
genome-wide significant. We have also fully sequenced
30 hemophilia A patients. An overview of
our sequencing approach along with preliminary
data will be provided. In addition, a list of identified
FVIII mutations and a breakdown of CCR5delta32
frequencies by country will be presented.
Mots-clé
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Web of science
Création de la notice
01/03/2012 16:14
Dernière modification de la notice
20/08/2019 16:14
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