Going back to the future with Guthrie-powered epigenome-wide association studies

Genome Medicine

Volumn 4, Issue 10, 2012, Pages

  Cruickshank, Mark N ^a   Pitt, James ^b   Craig, Jeffrey M ^c  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

biomarkers; DNA; epigenetics; Guthrie cards; newborn screening

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

COGNITIVE DEFECT; DNA METHYLATION; EPIGENETICS; FRAGILE X SYNDROME; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; HIGH THROUGHPUT SEQUENCING; HUMAN; IMMUNOPRECIPITATION; MONOZYGOTIC TWINS; NOTE; PRIORITY JOURNAL; TWIN DISCORDANCE;

EID: 84867894602     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm384     Document Type: Note

References (10)

1. Gluckman PD, Hanson MA, Buklijas T. A conceptual framework for the developmental origins of health and disease. J Dev Orig Health Dis 2010, 1:6-18.
2. Tobi EW, Lumey LH, Talens RP, Kremer D, Putter H, Stein AD, Slagboom PE, Heijmans BT. DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific. Hum Mol Genet 2009, 18:4046-4053. 10.1093/hmg/ddp353, 2758137, 19656776.
3. Rakyan VK, Beyan H, Down TA, Hawa MI, Maslau S, Aden D, Daunay A, Busato F, Mein CA, Manfras B, Dias KR, Bell CG, Tost J, Boehm BO, Beck S, Leslie RD. Identification of type 1 diabetes-associated DNA methylation variable positions that precede disease diagnosis. PLoS Genet 2011, 7:e1002300. 10.1371/journal.pgen.1002300, 3183089, 21980303.
4. Relton CL, Groom A, St Pourcain B, Sayers AE, Swan DC, Embleton ND, Pearce MS, Ring SM, Northstone K, Tobias JH, Trakalo J, Ness AR, Shaheen SO, Davey Smith G. DNA methylation patterns in cord blood DNA and body size in childhood. PloS One 2012, 7:e31821. 10.1371/journal.pone.0031821, 3303769, 22431966.
5. Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE. Fragile × related element 2 methylation analysis may provide a suitable option for inclusion of fragile × syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. Genet Med 2012, doi: 10.1038/gim.2012.134.
6. Gauffin F, Nordgren A, Barbany G, Gustafsson B, Karlsson H. Quantitation of RNA decay in dried blood spots during 20 years of storage. Clin Chem Lab Med 2009, 47:1467-1469.
7. Wong N, Morley R, Saffery R, Craig J. Archived Guthrie blood spots as a novel source for quantitative DNA methylation analysis. Biotechniques 2008, 45:423-424. 426, 428 passim, 10.2144/000112945, 18855769.
8. Beyan H, Down TA, Ramagopalan SV, Uvebrant K, Nilsson A, Holland ML, Gemma C, Giovannoni G, Boehm BO, Ebers GC, Lernmark A, Cilio CM, Leslie RD, Rakyan VK. Guthrie card methylomics identifies temporally stable epialleles that are present at birth in humans. Genome Res 2012, doi: 10.1101/gr.134304.111.
9. Feinberg AP, Irizarry RA, Fradin D, Aryee MJ, Murakami P, Aspelund T, Eiriksdottir G, Harris TB, Launer L, Gudnason V, Fallin MD. Personalized epigenomic signatures that are stable over time and covary with body mass index. Sci Transl Med 2010, 2:49ra67. 10.1126/scitranslmed.3001262, 3137242, 20844285.
10. Webster D. Optimizing Bob Guthrie's legacy - storage and use of residual newborn screening specimens. Genet Med 2011, 13:617-618. 10.1097/GIM.0b013e3182233fe6, 21681104.