MS functional genomics

Summary

Associate Professor David Booth is co-chair of the MS Research Australia-funded research platform - The ANZgene Consortium for MS genetics - and is a pivotal member of the International MS Genetics Consortium. Over the last few years he has contributed enormously to our understanding of the genetic basis for susceptibility to MS. In recognition of this, and to support his continued contribution to this field of research, he was awarded the inaugural Senior Research Fellowship from MS Research Australia and was appointed as an Associate Professor of the University of Sydney in January 2010.

David gained his PhD from Imperial College London, in 1992. He then studied the genetic basis of Amyloidoisis and Familial Mediterranean Fever at The Royal Free Hospital in London, before returning to Australia in 2001 to investigate which genes cause susceptibility to Multiple Sclerosis and why.

Associate Professor Booth’s group were the first to identify that variations in the gene that codes for the Interleukin-7 Receptor (IL7R) are associated with MS, and to identify the possible mechanisms. He has made significant contributions to the International Multiple Sclerosis Genetics Consortium (IMSGC) and the Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene). These large-scale collaborations have together identified the genes conferring the largest effect on susceptibility to MS. His main task is now to determine why these genes contribute to MS disease. Associate Professor Booth is also working to identify biomarkers - molecules that can easily be screened for in blood or cerebrospinal fluid for clinical use in MS diagnosis and prognosis.

Associate Professor Booth’s other research interests also include studies into the genetic basis for differing responses to treatment for other immune conditions, notably hepatitis C and HIV.

Project Outcomes

Over the course of his Senior Research Fellowship, Associate Professor Booth has published over 60 papers in prestigious medical journals, including Nature, Nature Genetics, Nature Communications, Journal of Immunology, and Multiple Sclerosis Journal. Associate Professor Booth has 3 patent family applications in process, on genetic variants to predict treatment response, and on fibrosis rate.

During this time he has won 5 NHMRC grants worth more than $2.5 million: on the genes IFNL3, IL7R, CYP27B1, CD40 and the PHOCIS clinical trial. Associate Professor Booth has used preliminary data obtained from my work in 3 more applications for NHMRC project grant funding, with a further value over $2.5 million. He been involved in successful grants from MS Research Australia worth $400,000 genetics, immunity and the Epstein Barr Virus and MS. Associate Professor Booth has also been awarded an NHMRC Senior Research Fellowship for 2015-2019, and funding from the Ainsworth Foundation.

The Senior Research Fellowship has also allowed Associate Professor Booth to mentor a number of junior researchers. This includes supervision of four successful PhD students since 2010 and he is currently supervising an M.Phil student and an MD honours student. Associate Professor Booth’s team also includes postdoctoral scientists and research scientists. These scientists are all authors on publications and are developing their careers partially as a direct result of this fellowship.

Associate Professor Booth also holds an MS Research Australia project grant on MS genes and function, which commenced in 2011. Read more about the project grant here.

Publications

2015

Resistance to hepatitis C virus: potential genetic and immunological determinants. Mina MM, Luciani F, Cameron B, Bull RA, Beard MR, Booth D, Lloyd AR. Lancet Infect Dis. 2015 Feb 18. pii: S1473-3099(14)70965-X. doi: 10.1016/S1473-3099(14)70965-X. [Epub ahead of print] Review.
Interferon-λ rs12979860 genotype and liver fibrosis in viral and non-viral chronic liver disease. Eslam M, et al, Booth DR, George J, Ahlenstiel G; International Hepatitis C Genetics Consortium (IHCGC); International Hepatitis C Genetics Consortium IHCGC. Nat Commun. 2015 Mar 5;6:6422.

2014

Ribosomal protein S6 mRNA is a biomarker upregulated in multiple sclerosis, downregulated by interferon treatment, and affected by season. Parnell GP, Gatt PN, McKay FC, Schibeci S, Krupa M, Powell JE, Visscher PM, Montgomery GW, Lechner-Scott J, Broadley S, Liddle C, Slee M, Vucic S, Stewart GJ, Booth DR. Mult Scler. 2014 May;20(6):675-85.
A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility. Damotte V, et al (incl Booth DR) Genes Immun. 2014 Mar;15(2):126-32.
The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells. Shahijanian F, Parnell GP, McKay FC, Gatt PN, Shojoei M, O'Connor KS, Schibeci SD, Brilot F, Liddle C, Batten M; ANZgene Multiple Sclerosis Genetics Consortium, Stewart GJ, Booth DR. Hum Mol Genet. 2014 Mar 15;23(6):1425-34.
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Goris A, et al (incl Booth DR) Hum Mol Genet. 2014 Apr 1;23(7):1916-22.
Hepatic metallothionein expression in chronic hepatitis C virus infection is IFNL3 genotype-dependent. O'Connor KS, Parnell G, Patrick E, Ahlenstiel G, Suppiah V, van der Poorten D, Read SA, Leung R, Douglas MW, Yang JY, Stewart GJ, Liddle C, George J, Booth DR. Genes Immun. 2014 Mar;15(2):88-94
The autoimmune disease-associated transcription factors EOMES and TBX21 are dysregulated in multiple sclerosis and define a molecular subtype of disease. Parnell GP, Gatt PN, Krupa M, Nickles D, McKay FC, Schibeci SD, Batten M, Baranzini S, Henderson A, Barnett M, Slee M, Vucic S, Stewart GJ, Booth DR. Clin Immunol. 2014 Mar;151(1):16-24.
IFNL3 polymorphisms predict response to therapy in chronic hepatitis C genotype 2/3 infection. Eslam M, et al (incl Booth DR) J Hepatol. 2014 Aug;61(2):235-41.
Whole blood transcriptomic analysis to identify clinical biomarkers of drug response. Parnell GP, Booth DR. Methods Mol Biol. 2014;1175:35-43.
JC polyomavirus infection is strongly controlled by human leucocyte antigen class II variants. Sundqvist E, et al (incl Booth DR) PLoS Pathog. 2014 Apr 24;10(4):e1004084.
Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci. Andreassen OA, et al (incl Booth DR) Mol Psychiatry. 2014 Jan 28. doi: 10.1038/mp.2013.195.
Antibodies to MOG have a demyelination phenotype and affect oligodendrocyte cytoskeleton. Dale RC, et al (incl Booth DR) Neurol Neuroimmunol Neuroinflamm. 2014 May 22;1(1):e12.
Antibodies to myelin oligodendrocyte glycoprotein in bilateral and recurrent optic neuritis. Ramanathan S, et al (incl Booth DR) Neurol Neuroimmunol Neuroinflamm. 2014 Oct 29;1(4):e40.
Impact of common risk factors of fibrosis progression in chronic hepatitis C. Rüeger S, et al (incl Booth DR) Gut. 2014 Sep 11.
Dendritic cells in hepatitis C virus infection: key players in the IFNL3-genotype response. O'Connor KS, George J, Booth D, Ahlenstiel G. World J Gastroenterol. 2014 Dec 21;20(47):17830-8.

2013

Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects. Patsopoulos NA, et al (incl Booth DR) PLoS Genet. 2013 Nov;9(11):e1003926.
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles. Mero IL, et al (incl Booth DR) PLoS One. 2013;8(3):e58352
Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls. International Multiple Sclerosis Genetics Consortium.(incl Booth DR) Am J Hum Genet. 2013 Jun 6;92(6):854-65.
Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis. Lee SH, incl Booth DR) Hum Mol Genet. 2013 Feb 15;22(4):832-41.
Loss of function of the new interferon IFN-λ4 may confer protection from hepatitis C. Booth D, George J. Nat Genet. 2013 Feb;45(2):119-20.
Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes. Cortes A, et al (incl Booth DR) Hum Mol Genet. 2013 Jun 1;22(11):2283-92
MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis. IMSGC (incl Booth DR) Brain. 2013 Jun;136(Pt 6):1778-82.
CCR5-Δ32 genotype does not improve predictive value of IL28B polymorphisms for treatment response in chronic HCV infection. Suppiah V, Armstrong NJ, O'Connor KS, Berg T, Weltman M, Abate ML, Spengler U, Bassendine M, Dore GJ, Irving WL, Powell E, Nattermann J, Mueller T, Riordan S, Stewart GJ, George J, Booth DR, Ahlenstiel G; International Hepatitis C Genetics Consortium (IHCGC). Genes Immun. 2013 Jul-Aug;14(5):286-90.
A "candidate-interactome" aggregate analysis of genome-wide association data in multiple sclerosis. Mechelli R, et al (inclBooth DR) PLoS One. 2013 May 16;8(5):e63300.
Identifying key regulatory genes in the whole blood of septic patients to monitor underlying immune dysfunctions. Parnell GP, Tang BM, Nalos M, Armstrong NJ, Huang SJ, Booth DR, McLean AS. Shock. 2013 Sep;40(3):166-74.
IFNL3 mediates interaction between innate immune cells: Implications for hepatitis C virus pathogenesis. O'Connor KS, Ahlenstiel G, Suppiah V, Schibeci S, Ong A, Leung R, van der Poorten D, Douglas MW, Weltman MD, Stewart GJ, Liddle C, George J, Booth DR. Innate Immun. 2013 Sep 17;20(6):598-605.
IL7Rα expression and upregulation by IFNβ in dendritic cell subsets is haplotype-dependent. McKay FC, Hoe E, Parnell G, Gatt P, Schibeci SD, Stewart GJ, Booth DR. PLoS One. 2013 Oct 16;8(10):e77508.
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. International Multiple Sclerosis Genetics Consortium (IMSGC), (incl Booth DR) Nat Genet. 2013 Nov;45(11):1353-60.

2012

Pharmacogenomics of hepatitis C infections: personalizing therapy. Booth DR, Ahlenstiel G, eorge J. Genome Med. 2012 Dec 26;4(12):99.
Interleukin-6 gene promoter-572 C allele may play a role in rate of disease progression in multiple sclerosis. Yan J, et al (inclBooth DR) Int J Mol Sci. 2012 Oct 22;13(10):13667-79.
Will IL28B polymorphisms remain relevant to direct-acting antiviral treatment paradigms? Ahlenstiel G, Booth DR, George J. Antivir Ther. 2012;17(6 Pt B):1163-70.
A distinct influenza infection signature in the blood transcriptome of patients with severe community-acquired pneumonia. Parnell GP, McLean AS, Booth DR, Armstrong NJ, Nalos M, Huang SJ, Manak J, Tang W, Tam OY, Chan S, Tang BM. Crit Care. 2012 Aug 16;16(4):R157.
Suan D, Booth DR, Kennedy IH, Downie J, Earls P, Gottlieb D, Stewart GJ, Lin MW. Vitreal deposits in Val71Ala transthyretin amyloidosis. Intern Med J. 2012 Jan;42(1):106-8.
Martinelli-Boneschi F, Esposito F, Brambilla P, Lindström E, Lavorgna G, Stankovich J, Rodegher M, Capra R, Ghezzi A, Coniglio G, Colombo B, Sorosina M, Martinelli V, Booth D, Bang Oturai A, Stewart G, Harbo HF, Kilpatrick TJ, Hillert J, Rubio JP, Abderrahim H, Wojcik J, Comi G. A genome-wide association study in progressive multiple sclerosis. Mult Scler. 2012 Mar 28.
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection. Patin E, et al (incl Booth DR) Gastroenterology. 2012 Nov;143(5):1244-52.e1-12.
Fischer J, Böhm S, Scholz M, Müller T, Witt H, George J, Sarrazin C, Susser S, Schott E, Suppiah V, Booth DR, Stewart GJ, van Bömmel F, Brodzinski A, Fülöp B, Migaud P, Berg T. Combined effects of different interleukin-28B gene variants on the outcome of dual combination therapy in chronic hepatitis C virus type 1 infection. Hepatology. 2012 Jan 11.
Rajasuriar R, Booth DR, Gouillou M, Spelman T, James I, Solomon A, Chua K, Stewart G, Deeks S, Bangsberg DR, Muzoora C, Cameron PU, Hunt P, Martin J, Lewin SR. The role of SNPs in the α-chain of the IL-7R gene in CD4+ T-cell recovery in HIV-infected African patients receiving suppressive cART. Genes Immun. 2012 Jan;13(1):83-93.

2011

Patsopoulos NA; Bayer Pharma MS Genetics Working Group; Steering Committees of Studies Evaluating IFNβ-1b and a CCR1-Antagonist; ANZgene Consortium; GeneMSA; International Multiple Sclerosis Genetics Consortium, Esposito F, Reischl J, Lehr S, Bauer D, Heubach J, Sandbrink R, Pohl C, Edan G, Kappos L, Miller D, Montalbán J, Polman CH, Freedman MS, Hartung HP, Arnason BG, Comi G, Cook S, Filippi M, Goodin DS, Jeffery D, O'Connor P, Ebers GC, Langdon D, Reder AT, Traboulsee A, Zipp F, Schimrigk S, Hillert J, Bahlo M, Booth DR, Broadley S, Brown MA, Browning BL, Browning SR, Butzkueven H, Carroll WM, Chapman C, Foote SJ, Griffiths L, Kermode AG, Kilpatrick TJ, Lechner-Scott J, Marriott M, Mason D, Moscato P, Heard RN, Pender MP, Perreau VM, Perera D, Rubio JP, Scott RJ, Slee M, Stankovich J, Stewart GJ, Taylor BV, Tubridy N, Willoughby E, Wiley J, Matthews P, Boneschi FM, Compston A, Haines J, Hauser SL, McCauley J, Ivinson A, Oksenberg JR, Pericak-Vance M, Sawcer SJ, De Jager PL, Hafler DA, de Bakker PI. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Ann Neurol. 2011 Dec;70(6):897-912.
Afdhal NH, McHutchison JG, Zeuzem S, Mangia A, Pawlotsky JM, Murray JS, Shianna KV, Tanaka Y, Thomas DL, Booth DR, Goldstein DB; Pharmacogenetics and Hepatitis C Meeting Participants. Hepatitis C pharmacogenetics: state of the art in 2010. Hepatology. 2011 Jan;53(1):336-45.
Cunningham AL, Booth D. The first common cold sore susceptibility gene. J Infect Dis. 2011 Dec;204(11):1645-7.
Parnell G, McLean A, Booth D, Huang S, Nalos M, Tang B. Aberrant cell cycle and apoptotic changes characterise severe influenza A infection--a meta-analysis of genomic signatures in circulating leukocytes. PLoS One. 2011 Mar 8;6(3):e17186.
Suppiah V, Gaudieri S, Armstrong NJ, O'Connor KS, Berg T, Weltman M, Abate ML, Spengler U, Bassendine M, Dore GJ, Irving WL, Powell E, Hellard M, Riordan S, Matthews G, Sheridan D, Nattermann J, Smedile A, Müller T, Hammond E, Dunn D, Negro F, Bochud PY, Mallal S, Ahlenstiel G, Stewart GJ, George J, Booth DR; International Hepatitis C Genetics Consortium (IHCGC). IL28B, HLA-C, and KIR variants additively predict response to therapy in chronic hepatitis C virus infection in a European Cohort: a cross-sectional study. PLoS Med. 2011 Sep;8(9):e1001092.
Smith KR, Suppiah V, O'Connor K, Berg T, Weltman M, Abate ML, Spengler U, Bassendine M, Matthews G, Irving WL, Powell E, Riordan S, Ahlenstiel G, Stewart GJ, Bahlo M, George J, Booth DR; the International Hepatitis C Genetics Consortium (IHCGC). Identification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European cohort. Genome Med. 2011 Aug 31;3(8):57.
International Multiple Sclerosis Genetics Consortium (IMSGC incl. Booth DR); Wellcome Trust Case Control Consortium 2.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 2011 Aug 10;476(7359):214-9.
Suan D, O'Connor K, Booth DR, Liddle C, Stewart GJ. Voriconazole toxicity related to polymorphisms in CYP2C19. Intern Med J. 2011 Apr;41(4):364-5.

2010

Frydrych AM, Parsons R, Threlfall T, Austin N, Davies GR, Booth D, Slack-Smith LM. Oral cavity squamous cell carcinoma survival by biopsy type: a cancer registry study. Aust Dent J. 2010 Dec;55(4):378-84.
Booth D, Bouquot J. Clinico-pathologic conference: case 6. Glandular odontogenic cyst. Head Neck Pathol. 2010 Dec;4(4):351-5.
Rajasuriar R, Booth D, Solomon A, Chua K, Spelman T, Gouillou M, Schlub TE, Davenport M, Crowe S, Elliott J, Hoy J, Fairley C, Stewart G, Cameron P, Lewin SR. Biological determinants of immune reconstitution in HIV-infected patients receiving antiretroviral therapy: the role of interleukin 7 and interleukin 7 receptor α and microbial translocation. J Infect Dis. 2010 Oct 15;202(8):1254-64.
Grebely J, Petoumenos K, Hellard M, Matthews GV, Suppiah V, Applegate T, Yeung B, Marks P, Rawlinson W, Lloyd AR,Booth D, Kaldor JM, George J, Dore GJ; ATAHC Study Group. Potential role for interleukin-28B genotype in treatment decision-making in recent hepatitis C virus infection. Hepatology. 2010 Oct;52(4):1216-24.
Riveros C, Mellor D, Gandhi KS, McKay FC, Cox MB, Berretta R, Vaezpour SY, Inostroza-Ponta M, Broadley SA, Heard RN, Vucic S, Stewart GJ, Williams DW, Scott RJ, Lechner-Scott J, Booth DR, Moscato P; ANZgene Multiple Sclerosis Genetics Consortium. A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis. PLoS One. 2010 Dec 1;5(12):e14176.
Sander JW, Ryvlin P, Stefan H, Booth DR, Bauer J. Generic substitution of antiepileptic drugs. Expert Rev Neurother. 2010 Dec;10(12):1887-98.
Field J, Browning SR, Johnson LJ, Danoy P, Varney MD, Tait BD, Gandhi KS, Charlesworth JC, Heard RN; Australia and New Zealand Multiple Sclerosis Genetics Consortium, Stewart GJ, Kilpatrick TJ, Foote SJ, Bahlo M, Butzkueven H, Wiley J, Booth DR, Taylor BV, Brown MA, Rubio JP, Stankovich J. A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis. PLoS One. 2010 Oct 26;5(10):e13454.
Cox MB, Cairns MJ, Gandhi KS, Carroll AP, Moscovis S, Stewart GJ, Broadley S, Scott RJ, Booth DR, Lechner-Scott J; ANZgene Multiple Sclerosis Genetics Consortium. MicroRNAs miR-17 and miR-20a inhibit T cell activation genes and are under-expressed in MS whole blood. PLoS One. 2010 Aug 11;5(8):e12132.
Ahlenstiel G, Booth DR, George J. IL28B in hepatitis C virus infection: translating pharmacogenomics into clinical practice. J Gastroenterol. 2010 Sep;45(9):903-10.
International Multiple Sclerosis Genetics Consortium (IMSGC), Booth DR, Heard RN, Stewart GJ, Cox M, Scott RJ, Lechner-Scott J, Goris A, Dobosi R, Dubois B, Saarela J, Leppä V, Peltonen L, Pirttila T, Cournu-Rebeix I, Fontaine B, Bergamaschi L, D'Alfonso S, Leone M, Lorentzen AR, Harbo HF, Celius EG, Spurkland A, Link J, Kockum I, Olsson T, Hillert J, Ban M, Baker A, Kemppinen A, Sawcer S, Compston A, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, McCauley JL, Pericak-Vance MA, Oksenberg JR, Hauser SL, Sexton D, Haines J. Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. Nat Genet. 2010 Jun;42(6):469-70; author reply 470-1.
Gandhi KS, McKay FC, Diefenbach E, Crossett B, Schibeci SD, Heard RN, Stewart GJ, Booth DR, Arthur JW. Novel approaches to detect serum biomarkers for clinical response to interferon-beta treatment in multiple sclerosis. PLoS One. 2010 May 5;5(5):e10484.
Gandhi KS, McKay FC, Cox M, Riveros C, Armstrong N, Heard RN, Vucic S, Williams DW, Stankovich J, Brown M, Danoy P, Stewart GJ, Broadley S, Moscato P, Lechner-Scott J, Scott RJ, Booth DR. ANZgene Multiple Sclerosis Genetics Consortium. The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis. Hum Mol Genet. 2010 Jun 1;19(11):2134-43.
Hoe E, McKay FC, Schibeci SD, Gandhi K, Heard RN, Stewart GJ, Booth DR. Functionally significant differences in expression of disease-associated IL-7 receptor alpha haplotypes in CD4 T cells and dendritic cells. J Immunol. 2010 Mar 1;184(5):2512-7.
Wilson SK, Adjeroud M, Bellwood DR, Berumen ML, Booth D, Bozec YM, Chabanet P, Cheal A, Cinner J, Depczynski M, Feary DA, Gagliano M, Graham NA, Halford AR, Halpern BS, Harborne AR, Hoey AS, Holbrook SJ, Jones GP, Kulbiki M, Letourneur Y, De Loma TL, McClanahan T, McCormick MI, Meekan MG, Mumby PJ, Munday PL, Ohman MC, Pratchett MS, Riegl B, Sano M, Schmitt RJ, Syms C. Crucial knowledge gaps in current understanding of climate change impacts on coral reef fishes. J Exp Biol. 2010 Mar 15;213(6):894-900.
Hoe E, McKay F, Schibeci S, Heard R, Stewart G, Booth D. Interleukin 7 receptor alpha chain haplotypes vary in their influence on multiple sclerosis susceptibility and response to interferon Beta. J Interferon Cytokine Res. 2010 May;30(5):291-8.
Publications in 2010
Grebely J, Petoumenos K, Hellard M, Matthews GV, Suppiah V, Applegate T, Yeung B, Marks P, Rawlinson W, Lloyd AR,Booth D, Kaldor JM, George J, Dore GJ; ATAHC Study Group. Potential role for interleukin-28B genotype in treatment decision-making in recent hepatitis C virus infection. Hepatology. 2010 Oct;52(4):1216-24.
Rajasuriar R, Booth D, Solomon A, Chua K, Spelman T, Gouillou M, Schlub TE, Davenport M, Crowe S, Elliott J, Hoy J, Fairley C, Stewart G, Cameron P, Lewin SR. Biological determinants of immune reconstitution in HIV-infected patients receiving antiretroviral therapy: the role of interleukin 7 and interleukin 7 receptor α and microbial translocation. J Infect Dis. 2010 Oct 15;202(8):1254-64.
Riveros C, Mellor D, Gandhi KS, McKay FC, Cox MB, Berretta R, Vaezpour SY, Inostroza-Ponta M, Broadley SA, Heard RN, Vucic S, Stewart GJ, Williams DW, Scott RJ, Lechner-Scott J, Booth DR, Moscato P; ANZgene Multiple Sclerosis Genetics Consortium. A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis. PLoS One. 2010 Dec 1;5(12):e14176.
Field J, Browning SR, Johnson LJ, Danoy P, Varney MD, Tait BD, Gandhi KS, Charlesworth JC, Heard RN; Australia and New Zealand Multiple Sclerosis Genetics Consortium, Stewart GJ, Kilpatrick TJ, Foote SJ, Bahlo M, Butzkueven H, Wiley J, Booth DR, Taylor BV, Brown MA, Rubio JP, Stankovich J. A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis. PLoS One. 2010 Oct 26;5(10):e13454.
Ahlenstiel G, Booth DR, George J. IL28B in hepatitis C virus infection: translating pharmacogenomics into clinical practice. J Gastroenterol. 2010 Jul 16.
International Multiple Sclerosis Genetics Consortium (IMSGC incl. Booth DR). IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci. Genes Immun. 2010 Jul;11(5):397-405.
Cox MB, Cairns MJ, Gandhi KS, Carroll AP, Moscovis S, Stewart GJ, Broadley S, Scott RJ, Booth DR, Lechner-Scott J; ANZgene Multiple Sclerosis Genetics Consortium. MicroRNAs miR-17 and miR-20a Inhibit T Cell Activation Genes and Are Under-Expressed in MS Whole Blood. PLoS One. 2010 Aug 11;5(8). pii: e12132.
International Multiple Sclerosis Genetics Consortium (IMSGC)*, Booth DR, Heard RN, Stewart GJ, Cox M, Scott RJ, Lechner-Scott J, Goris A, Dobosi R, Dubois B, Saarela J, Leppä V, Peltonen L, Pirttila T, Cournu-Rebeix I, Fontaine B, Bergamaschi L, D'Alfonso S, Leone M, Lorentzen AR, Harbo HF, Celius EG, Spurkland A, Link J, Kockum I, Olsson T, Hillert J, Ban M, Baker A, Kemppinen A, Sawcer S, Compston A, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, McCauley JL, Pericak-Vance MA, Oksenberg JR, Hauser SL, Sexton D, Haines J. Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. Nat Genet. 2010 Jun;42(6):469-70.
Gandhi KS, McKay FC, Diefenbach E, Crossett B, Schibeci SD, Heard RN, Stewart GJ, Booth DR, Arthur JW. Novel approaches to detect serum biomarkers for clinical response to interferon-beta treatment in multiple sclerosis. PLoS One. 2010 May 5;5(5):e10484.
Jensen CJ, Stankovich J, Van der Walt A, Bahlo M, Taylor BV, van der Mei IA, Foote SJ, Kilpatrick TJ, Johnson LJ, Wilkins E, Field J, Danoy P, Brown MA; Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene, incl Booth DR), Rubio JP, Butzkueven H. Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients. PLoS One. 2010 Apr 2;5(4):e10003.
Gandhi KS, McKay FC, Cox M, Riveros C, Armstrong N, Heard RN, Vucic S, Williams DW, Stankovich J, Brown M, Danoy P, Stewart GJ, Broadley S, Moscato P, Lechner-Scott J, Scott RJ, Booth DR, ANZgene Multiple Sclerosis Genetics Consortium The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis. Human Molecular Genetics 2010 Feb 27.
Hoe E., McKay FC , Schibeci SD, Gandhi K, Heard RN, Stewart GJ, Booth DR. Functionally significant differences in expression of disease-associated IL-7Rhaplotypes in CD4 T cells and dendritic cells J Immunol 2010 Mar 1;184(5):2512-7.
Hoe E, McKay FC, Schibeci S, Heard R, Stewart GJ, Booth DR Interleukin 7 receptor alpha chain (IL7R) haplotypes vary in their influence on multiple sclerosis susceptibility and response to interferon beta J Interferon Cytokine Res. 2010 Feb 28.