Analysis of RYR1 Haplotype Profile in Patients with Malignant Hyperthermia

Summary 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...

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Bibliographic Details
Published in:Annals of human genetics 2009-01, Vol.73 (1), p.10-18
Main Authors: Carpenter, D., Morris, A., Robinson, R. L., Booms, P., Iles, D., Halsall, P. J., Steele, D., Hopkins, P. M., Shaw, M.‐A.
Format: Article
Language:English
Subjects:
Case-Control Studies
European Continental Ancestry Group - genetics
Gene Frequency
Genetic Predisposition to Disease
Haplotypes
Humans
Malignant Hyperthermia - genetics
Mutation
Polymorphism, Single Nucleotide
Risk Factors
Ryanodine Receptor Calcium Release Channel - genetics
United Kingdom
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Summary:Summary 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.
ISSN:0003-4800
1469-1809
DOI:10.1111/j.1469-1809.2008.00482.x