Linked Life Data

18945287

Source:http://linkedlifedata.com/resource/pubmed/id/18945287

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-1-9
pubmed:abstractText
This study represents a new approach to characterising patients at risk of malignant hyperthermia (MH) through the use of a recently published method for identifying high-risk haplotypes in candidate genes. We present analysis based upon the largest standardised and genotyped database of MH patients worldwide. We used unphased RYR1 SNP data directly to (1) assess RYR1 haplotype frequency differences between susceptible cases and control groups and (2) analyse population-based association via clustering of RYR1 haplotypes based on disease risk. Our results show a significant difference in RYR1 haplotype frequency between susceptible cases and UK Caucasian population controls. Furthermore we identify a high-risk cluster of haplotypes that is associated with the commonest UK MH mutation p.G2434R/c.7300G>A. These results demonstrate the applicability of this new and practical method for population based association analysis.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1469-1809
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
73
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
10-8
pubmed:dateRevised
2010-4-27
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Analysis of RYR1 haplotype profile in patients with malignant hyperthermia.
pubmed:affiliation
MH Investigation Unit, Academic Unit Anaesthesia, Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds LS97TF. danielle.carpenter@nottingham.ac.uk
pubmed:publicationType
Journal Article