The genetics of HIV resistance in exposed uninfected Haemophilia A patients: an update on the CHAVI 014 protocol
Details
Serval ID
serval:BIB_AA3291010694
Type
Inproceedings: an article in a conference proceedings.
Publication sub-type
Abstract (Abstract): shot summary in a article that contain essentials elements presented during a scientific conference, lecture or from a poster.
Collection
Publications
Institution
Title
The genetics of HIV resistance in exposed uninfected Haemophilia A patients: an update on the CHAVI 014 protocol
Title of the conference
EAHAD 2010, 3rd Annual Congress of the European Association for Haemophilia and Allied Disorders
Address
Edinburgh, Scotland, February 3-5, 2010
ISSN-L
1351-8216
Publication state
Published
Issued date
2010
Volume
16
Series
Haemophilia
Pages
404
Language
english
Notes
Publication type : Meeting Abstract
Abstract
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.
Keywords
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Web of science
Create date
01/03/2012 16:14
Last modification date
20/08/2019 16:14
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