Research Topics
Genomes and Genes
| Matthew A BrownSummaryAffiliation: University of Queensland Country: Australia Publications
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Detail Information
Publications
Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitisMatthew A Brown
Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Brisbane 4102, Australia
Arthritis Res Ther 11:254. 2009..The current studies in AS remain underpowered, and no full genomewide association study has yet been reported in AS; such studies are likely to add to the significant advances that have already been made...
Genomewide screens in ankylosing spondylitisMatthew A Brown
Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Woolloongabba, QLD, Australia
Adv Exp Med Biol 649:148-58. 2009..In this chapter the genetic epidemiology of AS and the gene-mapping studies performed to date will be reviewed and the future direction of research in this field discussed...
Progress in the genetics of ankylosing spondylitisMatthew A Brown
Human Genetics Group, University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba
Brief Funct Genomics 10:249-57. 2011..These advances point to several potential novel therapeutic approaches in AS...
Genetics and the pathogenesis of ankylosing spondylitisMatthew A Brown
Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia
Curr Opin Rheumatol 21:318-23. 2009....
Re: Zhu et al, "A novel gene variation of TNF alpha associated with ankylosing spondylitis: a reconfirmed study"M A Brown
University of Queensland, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Brisbane 4102, Australia
Ann Rheum Dis 67:434; discussion 434-6. 2008
Breakthroughs in genetic studies of ankylosing spondylitisM A Brown
Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD, 4102, Australia
Rheumatology (Oxford) 47:132-7. 2008....
Genetics of ankylosing spondylitisMatthew A Brown
Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
Curr Opin Rheumatol 22:126-32. 2010..The purpose of this review is to discuss the major findings of these studies, and the answers they provide and questions they raise about the pathogenesis of this common condition...
Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han ChineseStuart I Davidson
The University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
Ann Rheum Dis 70:289-92. 2011..A candidate gene study in a Han Chinese population was performed based on these findings to identify associated genes in this population...
Enrichment of circulating interleukin-17-secreting interleukin-23 receptor-positive γ/δ T cells in patients with active ankylosing spondylitisTony J Kenna
University of Queensland, Brisbane, Queensland, Australia
Arthritis Rheum 64:1420-9. 2012..IL23R is genetically associated with AS. This study was undertaken to investigate and characterize the role of interleukin-23 (IL-23) signaling in AS pathogenesis...
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFBAndreas Zankl
The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD, Australia
Am J Hum Genet 90:494-501. 2012..Identification of this gene paves the way for development of novel therapeutic approaches for this crippling disease and provides insight into normal bone and kidney development...
Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese populationStuart I Davidson
Princess Alexandra Hospital, University of Queensland, Brisbane, Queensland, Australia
Arthritis Rheum 60:3263-8. 2009..Based on these findings, we undertook the current study to investigate whether single-nucleotide polymorphisms (SNPs) covering the genes ERAP1 and IL23R are associated with AS in a Han Chinese population...
Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese populationPatrick Danoy
Human Genetics Group, The University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland, Australia
Ann Rheum Dis 70:1793-7. 2011..However, few studies have tried to dissect disease aetiopathogenesis in other ethnic populations...
Gene expression profiling reveals a downregulation in immune-associated genes in patients with ASRan Duan
Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD 4102, Australia
Ann Rheum Dis 69:1724-9. 2010..To identify differentially expressed genes in peripheral blood mononuclear cells (PBMCs) from patients with ankylosing spondylitis (AS) compared with healthy individuals...
Mapping genes for osteoporosis--old dogs and new tricksEmma L Duncan
Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD 4102, Australia
Bone 46:1219-25. 2010....
The genetics of ankylosing spondylitis and axial spondyloarthritisPhilip C Robinson
University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, Woolloongabba, Queensland 4102, Australia
Rheum Dis Clin North Am 38:539-53. 2012..Studies with larger samples and including non-European ethnic groups are likely to further advance the understanding of the genetics of AS and spondyloarthritis...
Integrated genome-wide chromatin occupancy and expression analyses identify key myeloid pro-differentiation transcription factors repressed by MybLiang Zhao
The University of Queensland Diamantina Institute, Brisbane, Queensland 4102, Australia
Nucleic Acids Res 39:4664-79. 2011....
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture riskEmma L Duncan
University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
PLoS Genet 7:e1001372. 2011..In addition to identifying further genes associated with BMD, this study confirms the efficiency of extreme-truncate selection designs for quantitative trait association studies...
Genetics and genomics of ankylosing spondylitisGethin P Thomas
Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, QLD, Australia
Immunol Rev 233:162-80. 2010..Given the slow progress in studying the mechanism of association of HLA-B27 with AS, these may prove to be more fruitful approaches to investigating the pathogenesis of the disease...
Non-major-histocompatibility-complex genetics of ankylosing spondylitisMatthew A Brown
Centre for Immunology and Cancer Research, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD 4102, Australia
Best Pract Res Clin Rheumatol 20:611-21. 2006..Nonetheless, it is appropriate for the field to be cautiously optimistic that the next few years will bring great advances in our understanding of the genetics of this condition...
Clinical review 2: Genetic determinants of bone density and fracture risk--state of the art and future directionsEmma L Duncan
University of Queensland Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Queensland 4102, Australia
J Clin Endocrinol Metab 95:2576-87. 2010..Only a small proportion of the total genetic variation involved in osteoporosis has been identified, and new approaches will be required to identify most of the remaining genes...
Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritisS M J Harney
Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Queensland 4102, Australia
Rheumatology (Oxford) 47:1761-7. 2008..In the present study, we aimed to refine these associations further using a combination of genotyping and gene expression studies...
Axial spondyloarthritis: a new disease entity, not necessarily early ankylosing spondylitisPhilip Cameron Robinson
University of Queensland Diamantina Institute, Princess Alexandra Hospital, Level 4, R Wing, Building 1, Woolloongabba, Brisbane, QLD 4102, Australia
Ann Rheum Dis 72:162-4. 2013..In the meantime the modified New York criteria for ankylosing spondylitis remain a very useful classification criteria set, defining a relatively homogenous group of cases for clinical use and research studies...
Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's diseasePatrick Danoy
The University of Queensland Diamantina Institute, Brisbane, Australia
PLoS Genet 6:e1001195. 2010..Finally these findings suggest common aetiopathogenic pathways for AS and Crohn's disease and further highlight the involvement of common risk variants across multiple diseases...
Five years of GWAS discoveryPeter M Visscher
University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia
Am J Hum Genet 90:7-24. 2012..We return to the perceived failure or disappointment about GWASs in the concluding section...
Promise and pitfalls of the ImmunochipAdrian Cortes
University of Queensland Diamantina Institute, Brisbane, Queensland, Australia
Arthritis Res Ther 13:101. 2011..This chip provides a powerful tool for immunogenetics gene mapping...
Identification of IL6R and chromosome 11q13.5 as risk loci for asthmaManuel A R Ferreira
The Queensland Institute of Medical Research, Brisbane, QLD, Australia
Lancet 378:1006-14. 2011..We aimed to identify novel genetic variants affecting asthma risk, since these might provide novel insights into molecular mechanisms underlying the disease...
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasiaEvgeny A Glazov
University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia
PLoS Genet 7:e1002027. 2011....
Genomics of ankylosing spondylitisGethin P Thomas
University of Queensland Diamantina Institute, Woolloongabba, Queensland, 4102, Australia
Discov Med 10:263-71. 2010..Future studies will require collaborative approaches to target specific disease stages and sites with larger numbers of samples...
Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitisA M Sims
Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Brisbane, Quensland, Australia
Ann Rheum Dis 67:1305-9. 2008..The aim of the current study was to determine the contribution of interleukin (IL)1 gene cluster polymorphisms previously implicated in susceptibility for ankylosing spondylitis (AS) to AS susceptibility in different populations worldwide...
β-glucan triggers spondylarthritis and Crohn's disease-like ileitis in SKG miceMerja Ruutu
University of Queensland and Princess Alexandra Hospital, Brisbane, Queensland, Australia
Arthritis Rheum 64:2211-22. 2012..This study was undertaken to determine whether SKG mice injected with 1,3-β-glucan (curdlan) develop evidence of SpA, and the relationship of innate and adaptive autoimmunity to this process...
Genetic studies in osteoporosis--the end of the beginningEmma L Duncan
The University of Queensland, Diamantina Institute for Cancer Immunology and Metabolic Medicine, Princess Alexandra Hospital, Woolloongabba QLD 4102, Australia
Arthritis Res Ther 10:214. 2008..This article outlines what we know about osteoporosis genetics to date and the probable future directions of research in this field...
Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genesAnne Marie Sims
Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Brisbane, Australia
J Bone Miner Res 23:499-506. 2008..This confirms that extreme truncate selection is a powerful design for quantitative trait association studies of bone phenotypes...
Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese ChineseC T Chou
Centre for Immunology and Cancer Research, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Queensland 4102, Australia
Ann Rheum Dis 65:1106-9. 2006..To test the association of interleukin 1 (IL1) gene family members with ankylosing spondylitis (AS), previously reported in Europid subjects, in an ethnically remote population...
Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitisA Milicic
Nuffield Orthopaedic Centre, Windmill Rd, Headington, OX3 7LD, UK
Genes Immun 1:418-22. 2000..More likely, a second, non-HLA-B, MHC locus is involved in susceptibility to AS in these two populations...
A genome-wide screen for susceptibility loci in ankylosing spondylitisM A Brown
Wellcome Trust Centre for Human Genetics, Headington, UK
Arthritis Rheum 41:588-95. 1998..To localize the regions containing genes that determine susceptibility to ankylosing spondylitis (AS)...
Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility lociS H Laval
Spondyloarthritis and Bone Disease Research Group, Wellcome Trust Centre for Human Genetics, Headington, OX3 7BN, United Kingdom
Am J Hum Genet 68:918-26. 2001..6. The strongest non-MHC linkage lies on chromosome 16q (overall LOD score 4.7). These results strongly support the presence of non-MHC genetic-susceptibility factors in AS and point to their likely locations...
Is disease severity in ankylosing spondylitis genetically determined?J Hamersma
University Hospital Vrije Universiteit, Armsterdam, The Netherlands
Arthritis Rheum 44:1396-400. 2001..To assess the role of genes and the environment in determining the severity of ankylosing spondylitis...
Genetics of ankylosing spondylitisM A Brown
Wellcome Trust Centre for Human Genetics, Spondyloarthritis and Bone Disease Research Group, Oxford, United Kingdom
Clin Exp Rheumatol 20:S43-9. 2002..Although some genes, notably HLA-B27, have been implicated in susceptibility to the disease, the genetics of the condition are complex and many more genes involved in the condition await discovery...
The effect of transforming growth factor beta1 gene polymorphisms in ankylosing spondylitisE Jaakkola
Wellcome Trust Centre for Human Genetics, Oxford, UK
Rheumatology (Oxford) 43:32-8. 2004..CONCLUSION: This study suggests that the polymorphisms within the TGFB1 gene play at most a small role in AS and that other genes encoded on chromosome 19 are involved in susceptibility to the disease...
Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patientsP Harrison
Botnar Research Centre, University of Oxford, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK
Rheumatology (Oxford) 45:1009-11. 2006..To confirm the association of a functional single-nucleotide polymorphism (SNP), C1858T (rs2476601), in the PTPN22 gene of British Caucasian rheumatoid arthritis (RA) patients and to evaluate its influence on the RA phenotype...
Non-B27 MHC associations of ankylosing spondylitisA M Sims
Botnar Research Centre, Nuffield Orthopaedic Centre, Oxford, UK
Genes Immun 8:115-23. 2007..Interrogation of the data identified a region of 270 kb, lying from 31 952 649 to 32 221 738 base pairs from the p-telomere of chromosome 6 and containing 23 genes, which is likely to include genes involved with susceptibility to AS...
Combined analysis of three whole genome linkage scans for Ankylosing SpondylitisK W Carter
Laboratory for Genetic Epidemiology, Western Australian Institute for Medical Research, UWA Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia
Rheumatology (Oxford) 46:763-71. 2007..One potential solution to these issues is to combine data from multiple studies in a retrospective meta-analysis...
Effect of an estrogen receptor-alpha intron 4 polymorphism on fat mass in 11-year-old childrenJ H Tobias
Rheumatology Unit, Bristol Royal Infirmary, Bristol, UK
J Clin Endocrinol Metab 92:2286-91. 2007..Polymorphisms in the ESR1 gene encoding estrogen receptor (ER)-alpha may be associated with fat mass in adults...
Genetic control of bone density and turnover: role of the collagen 1alpha1, estrogen receptor, and vitamin D receptor genesM A Brown
Bone and Mineral Research Program, Garvan Institute of Medical Research, Sydney, NSW, Australia
J Bone Miner Res 16:758-64. 2001..These data support the involvement of COL1A1 in determination of bone density and the interaction of both COL1A1 and VDR with calcium intake in regulation of change of bone density over time...
Structural organization of the genes for murine and human leukemia inhibitory factor. Evolutionary conservation of coding and non-coding regionsJ Stahl
Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Parkville, Victoria, Australia
J Biol Chem 265:8833-41. 1990..Seven segments displaying greater than 75% homology were identified, with the 5' and 3' ends of the transcription unit revealing the highest degree of homology. These conserved regions represents potential cis-acting control elements...
Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer familiesC F Xu
Somatic Cell Genetics, Imperial Cancer Research Fund, London, United Kingdom
Genes Chromosomes Cancer 18:102-10. 1997..Seven variant BRCA1 transcripts were identified by RT-PCR; all but one maintained the BRCA1 open reading frame. We believe that alternative splicing may play a significant role in modulating the physiological function of BRCA1...
The 5' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21M A Brown
Somatic Cell Genetics Laboratory, Imperial Cancer Research Fund, London, UK
Oncogene 12:2507-13. 1996..We believe that these findings could not only confound BRCA1 mutation analysis, but could have implications for the normal and abnormal regulation of BRCA1 transcription, translation and function...
Leukaemia inhibitory factor and interleukin 6 are expressed at very low levels in the normal adult mouse and are induced by inflammationM A Brown
Walter and Eliza Hall Institute of Medical Research, P O Royal Melbourne Hospital, Parkville, Victoria, Australia
Cytokine 6:300-9. 1994..This induction of LIF and IL-6, by LPS and culturing, may reflect the role of these molecules as mediators of the acute phase response to tissue damage...
Physical mapping, cloning, and identification of genes within a 500-kb region containing BRCA1M A Brown
Somatic Cell Genetics Laboratory, Imperial Cancer Research Fund, London, United Kingdom
Proc Natl Acad Sci U S A 92:4362-6. 1995..Approximately 70 exons were isolated from this region, 11 of which were components of the BRCA1 gene. Analysis of the other exons revealed a rho-related G protein and the interferon-induced leucine-zipper protein IFP-35...
Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipaseS Datta
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030
J Biol Chem 263:1107-10. 1988..Analysis of hybrids containing different translocations of chromosome 15 localized the gene to the region 15q15----q22...
Alternatively spliced RNAs encode several isoforms of CD46 (MCP), a regulator of complement activationD F Purcell
Department of Pathology, University of Melbourne, Parkville, Victoria, Australia
Immunogenetics 33:335-44. 1991..The alternative RNAs for CD46 may correlate to the different isoforms of CD46 found in different tissues, tumors, and in serum...
Estrogen receptor alpha regulates area-adjusted bone mineral content in late pubertal girlsJ H Tobias
Clinical Science at South Bristol, University of Bristol, Bristol, United Kingdom
J Clin Endocrinol Metab 92:641-7. 2007..Whether the action of estrogen in skeletal development depends on estrogen receptor alpha as encoded by the ESR1 gene is unknown...
Polymorphism in codon 17 of the CTLA-4 gene (+49 A/G) is not associated with susceptibility to rheumatoid arthritis in British CaucasiansA Milicic
Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
Tissue Antigens 58:50-4. 2001..We conclude that, although the importance of the B7-CTLA-4 interaction in the development of RA can not be excluded, the CTLA-4 gene is unlikely to be a predisposing factor to this disease...
Genetic studies of disorders of calcium crystal depositionA E Timms
Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
Rheumatology (Oxford) 41:725-9. 2002
Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitisE Jaakkola
Botnar Research Centre, Nuffield Orthopaedic Centre, Oxford, United Kingdom
Ann Rheum Dis 65:775-80. 2006..To determine the influence of HLA-B27 homozygosity and HLA-DRB1 alleles in the susceptibility to, and severity of, ankylosing spondylitis in a Finnish population...
Genetic and genomic studies of PADI4 in rheumatoid arthritisS M J Harney
University of Oxford, Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, Windmill Road, Oxford OX3 7LD, UK
Rheumatology (Oxford) 44:869-72. 2005..We therefore undertook a further study of genetic association between PADI4 and RA in UK Caucasians and also studied expression of PADI4 in the peripheral blood of patients with RA...
HLA-DR-DQ haplotypes and genotypes in Finnish patients with rheumatoid arthritisS Harney
Ann Rheum Dis 64:655; author reply 655. 2005
A novel human leucocyte antigen-DRB1 genotyping method based on multiplex primer extension reactionsE Jaakkola
The Botnar Research Center, Oxford, UK
Tissue Antigens 64:88-95. 2004..In this article, we describe the method and discuss its advantages and limitations...
A review of the MHC genetics of rheumatoid arthritisJ L Newton
Institute of Musculoskeletal Sciences, University of Oxford, The Botnar Research Centre, Nuffield Orthopaedic Centre, Headington, Oxford, UK
Genes Immun 5:151-7. 2004..Investigation of other candidate genes, in particular those that reside within the major histocompatibility complex, are hampered by the presence of strong linkage disequilibrium and problems with study design...
Investigation of the role of ANKH in ankylosing spondylitisA E Timms
Wellcome Trust Centre for Human Genetics, Headington, UK
Arthritis Rheum 48:2898-902. 2003..This study was undertaken to investigate the role of ANKH in susceptibility to and clinical manifestations of AS...
Australian data do not support current Pharmaceutical Benefits Scheme criteria for use of tumour necrosis factor-alpha inhibitors in ankylosing spondylitisL Schachna
Intern Med J 36:755-6. 2006
Interleukin 10 polymorphisms in ankylosing spondylitisV Goedecke
WellcomeTrust Centre for Human Genetics, Roosevelt Drive, Headington, Oxfordm UK
Genes Immun 4:74-6. 2003..03). We conclude that IL10 promoter polymorphisms have no significant effect on susceptibility to AS, but may play a minor role in determining age of disease onset and disease severity...
Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosisY Zhang
Oxford University Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK
Rheumatology (Oxford) 46:586-9. 2007..We have previously showed that genetic variation in ANKH is a cause of autosomal dominant familial CC and also some sporadic cases of CPPD CC. We now investigate the possible role of ENPP1 and TNAP in CPPD CC...
The F158V polymorphism in FcgammaRIIIA shows disparate associations with rheumatoid arthritis in two genetically distinct populationsA Milicic
Wellcome Trust Centre for Human Genetics, Headington, Oxford, UK
Ann Rheum Dis 61:1021-3. 2002..To investigate the association of the FcgammaRIIIA gene with rheumatoid arthritis (RA) in two genetically distinct groups: a white group from the United Kingdom and a northern Indian group...
Human leucocyte antigen-B27 and ankylosing spondylitisM A Brown
Intern Med J 37:739-40. 2007
