Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Bishop, Matthew T ^a   Sanchez Juan, Pascual ^b   Knight, Richard S G ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

Author keywords

Infection; Neurodegeneration; Phospholipase; Prion disease; Susceptibility

Indexed keywords

PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE PHOSPHODIESTERASE; PHOSPHATIDYLINOSITOL-SPECIFIC PHOSPHOLIPASE C X DOMAIN CONTAINING 3; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC VARIABILITY; GENOTYPE; HUMAN; LIPOLYSIS; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SPORADIC CREUTZFELDT JAKOB DISEASE; VARIANT CREUTZFELDT JAKOB DISEASE;

BASE SEQUENCE; CREUTZFELDT-JAKOB SYNDROME; GENE FREQUENCY; GENOTYPE; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; TYPE C PHOSPHOLIPASES;

BOVINAE;

EID: 84883704908     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-91     Document Type: Article

References (20)

1. Will RG, Ironside JW, Zeidler M, Cousens SN, Estibeiro K, Alperovitch A, Poser S, Pocchiari M, Hofman A, Smith PG. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet 1996, 347:921-925.
2. Ironside JW, Head MW, Bell JE, McCardle L, Will RG. Laboratory diagnosis of variant Creutzfeldt-Jakob disease. Histopathology 2000, 37:1-9.
3. Bishop MT, Pennington C, Heath CA, Will RG, Knight RS. PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism. BMC Med Genet 2009, 10:146.
4. Garske T, Ghani AC. Uncertainty in the tail of the variant Creutzfeldt-Jakob disease epidemic in the UK. PLoS One 2010, 5:e15626.
5. Hilton DA, Fathers E, Edwards P, Ironside JW, Zajicek J. Prion immunoreactivity in appendix before clinical onset of variant Creutzfeldt-Jakob disease. Lancet 1998, 352:703-704.
6. Hilton DA, Ghani AC, Conyers L, Edwards P, McCardle L, Ritchie D, Penney M, Hegazy D, Ironside JW. Prevalence of lymphoreticular prion protein accumulation in UK tissue samples. J Pathol 2004, 203:733-739.
7. HPA Summary results of the second national survey of abnormal prion prevalence in archived appendix specimens. Health Protection Report 2012, 6:17-22. HPA.
8. Cooper JD, Bird SM. UK dietary exposure to BSE in beef mechanically recovered meat: by birth cohort and gender. J Cancer Epidemiol Prev 2002, 7:59-70.
9. Bishop MT, Kovacs GG, Sanchez-Juan P, Knight RS. Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease. BMC Med Genet 2008, 9:31.
10. Sanchez-Juan P, Bishop MT, Aulchenko YS, Brandel JP, Rivadeneira F, Struchalin M, Lambert JC, Amouyel P, Combarros O, Sainz J. Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. Neurobiol Aging 2011, 33:e1421-e1428. 1487.
11. Mead S, Poulter M, Uphill J, Beck J, Whitfield J, Webb TE, Campbell T, Adamson G, Deriziotis P, Tabrizi SJ, et al. Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. Lancet Neurol 2009, 8:57-66.
12. Aulchenko YS, Ripke S, Isaacs A, Van Duijn CM. GenABEL: an R library for genome-wide association analysis. Bioinformatics (Oxford, England) 2007, 23:1294-1296.
13. Li Y, Willer C, Sanna S, Abecasis G. Genotype imputation. Annu Rev Genomics Hum Genet 2009, 10:387-406.
14. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010, 34:816-834.
15. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, De Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81:559-575.
16. Anderson CA, Pettersson FH, Clarke GM, Cardon LR, Morris AP, Zondervan KT. Data quality control in genetic case-control association studies. Nat Protoc 2010, 5:1564-1573.
17. Suh PG, Park JI, Manzoli L, Cocco L, Peak JC, Katan M, Fukami K, Kataoka T, Yun S, Ryu SH. Multiple roles of phosphoinositide-specific phospholipase C isozymes. BMB Rep 2008, 41:415-434.
18. Heinz DW, Essen LO, Williams RL. Structural and mechanistic comparison of prokaryotic and eukaryotic phosphoinositide-specific phospholipases C. J Mol Biol 1998, 275:635-650.
19. Gellatly SA, Kalujnaia S, Cramb G. Cloning, tissue distribution and sub-cellular localisation of phospholipase C X-domain containing protein (PLCXD) isoforms. Biochem Biophys Res Commun 2012, 424:651-656.
20. Torres M, Encina G, Soto C, Hetz C. Abnormal calcium homeostasis and protein folding stress at the ER: a common factor in familial and infectious prion disorders. Commun Integr Biol 2011, 4:258-261.