Genetic variation in RYR1 and malignant hyperthermia phenotypes

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Genetic variation in RYR1 and malignant hyperthermia phenotypes D. Carpenter, R.L. Robinson, R.J. Quinnell, C. Ringrose, M. Hogg, F. Casson, P. Booms, D.E. Iles, P.J. Halsall, D.S. Steele, M.-A. Shaw, P.M. Hopkins British Journal of Anaesthesia Volume 103, Issue 4, Pages 538-548 (October 2009) DOI: 10.1093/bja/aep204 Copyright © 2009 British Journal of Anaesthesia Terms and Conditions

Fig 1 Graphical representation of the differences between the means for each RYR1 variant type for every MH IVCT phenotype. (a) Static caffeine (n=502), (b) static halothane (n=502), (c) dynamic halothane (n=502), (d) static ryanodine response time (n=446), and (e) CK levels (n=463). Values shown are the mean and se of back transformed data for each variant. Asterisks represent significant differences from G2434R; *P<0.05, **P<0.01, and ***P<0.001. British Journal of Anaesthesia 2009 103, 538-548DOI: (10.1093/bja/aep204) Copyright © 2009 British Journal of Anaesthesia Terms and Conditions

Fig 2 The global distribution of RYR1 variants together with the percentage conservation for each exon. The total number of variants per exon was calculated from Robinson and colleagues,5 and divided by the number of amino-acids per exon to give a frequency of variants per exon, and is represented by the grey bars. The percentage of evolutionarily conserved sites within each exon was calculated from the sequence alignment data using all available species alignments [species used were H. sapiens (P21817), S. scrofa (P16960), M. musculus (Q80X16), O. cuniculus (P11716), D. melanogaster (Q24498), C. elegans (P91905), A. gambiae (Q7PJQ9), R. catesbeiana (Q91313), M. nigricans (O13054), and H. pulcherrimus (Q8TA74)], and is shown with the continuous line. British Journal of Anaesthesia 2009 103, 538-548DOI: (10.1093/bja/aep204) Copyright © 2009 British Journal of Anaesthesia Terms and Conditions