Genomes and Genes
Stephen C L Gough
Affiliation: University of Birmingham
- CTLA4 gene polymorphism and autoimmunityStephen C L Gough
Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, Birmingham B9 5SS, UK
Immunol Rev 204:102-15. 2005..In this review, we discuss recent progress in relating CTLA4 polymorphisms to disease susceptibility and consider the putative mechanisms by which CTLA4 may act to inhibit autoimmunity...
- A review of human and analogue insulin trialsStephen C L Gough
Institute of Biomedical Research, The Medical School, University of Birmingham, Birmingham, UK
Diabetes Res Clin Pract 77:1-15. 2007..Significant benefits, including PPG lowering with the rapid-acting analogues and the potential for reduction in cardiovascular risk, should be investigated further...
- Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetesJohn A Todd
Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, University of Cambridge, Addenbrooke s Hospital, Cambridge CB2 0XY, UK
Nat Genet 39:857-64. 2007..Several regions, including 18q22 and 18p11, showed association with autoimmune thyroid disease. This study increases the number of T1D loci with compelling evidence from six to at least ten...
- The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiencyAlice M Wood
Division of Medical Sciences, The Medical School, University of Birmingham, Birmingham, B15 2TT, UK
Respir Res 9:52. 2008..This study investigated subjects with AATD to determine the relationship between specific phenotypes and TNFalpha polymorphisms...
- The genetics of Graves' diseaseS C Gough
Division of Medical Sciences, University of Birmingham, United Kingdom
Endocrinol Metab Clin North Am 29:255-66. 2000..Additional loci are likely to be identified via a combination of genome-wide linkage analysis and allelic association analysis of candidate genes...
- Diabetes and its prevention: pragmatic solutions for people with schizophreniaStephen Gough
Division of Medical Sciences, University of Birmingham and Birmingham Heartlands Hospital, Birmingham, UK
Br J Psychiatry Suppl 47:S106-11. 2004..Patients with schizophrenia have an increased risk of developing diabetes. However, no pragmatic pathway of care has ever been proposed in order to identify individuals at risk and manage that risk effectively...
- Post-marketing surveillance: a UK/European perspectiveStephen Gough
Division of Medical Sciences, University of Birmingham, Birmingham, UK
Curr Med Res Opin 21:565-70. 2005..This article discusses post-marketing pharmacovigilance and the role of PMS studies in the context of current UK and European legislation...
- Clustering of metabolic comorbidity in schizophrenia: a genetic contribution?Stephen C L Gough
Institute of Biomedical Research, University of Birmingham, Birmingham, UK
J Psychopharmacol 19:47-55. 2005..This article reviews the genetic basis to schizophrenia and type 2 diabetes and discusses the potential for shared loci between both conditions...
- The thyroglobulin gene: the third locus for autoimmune thyroid disease or a false dawn?Stephen Gough
Division of Medical Sciences, University of Birmingham, Birmingham Heartlands Hospital, Bordesley Green East, Birmingham, B9 5SS, UK
Trends Mol Med 10:302-5. 2004..Although these preliminary data are potentially exciting, caution needs to be exercised, and replication of the data sought before Tg can be designated as the third locus for AITD...
- Association of the interleukin-2 receptor alpha (IL-2Ralpha)/CD25 gene region with Graves' disease using a multilocus test and tag SNPsOliver J Brand
Department of Medicine, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK
Clin Endocrinol (Oxf) 66:508-12. 2007....
- Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progressionKadija Yesmin
Centre for Endocrinology, Diabetes and Metabolism, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, UK
Clin Endocrinol (Oxf) 73:119-25. 2010..This study aimed to determine whether FcGRIIa is associated with Graves' disease (GD) in the UK Caucasian population by Tag SNP screening common polymorphisms within the FcGRIIa region...
- A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effectMatthew J Simmonds
Division of Medical Sciences, University of Birmingham, UK
Hum Mol Genet 16:2149-53. 2007..Our results point to a primary role for class I-mediated responses in GD, a condition classically assumed to be a straightforward HLA-class II-restricted autoantibody response to the thyroid stimulating hormone receptor...
- Confirmation of association of chromosome 5q31-33 with United Kingdom Caucasian Graves' diseaseMatthew J Simmonds
Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, UK
Thyroid 20:413-7. 2010..We sought to confirm this association in a large Caucasian U.K. GD cohort...
- CT60 and +49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitisLavanya Kamesh
Renal Unit, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Rheumatology (Oxford) 48:1502-5. 2009..To investigate whether single nucleotide polymorphisms (SNPs) within cytotoxic T-lymphocyte antigen-4 (CTLA-4) are associated with ANCA-associated small vessel vasculitis (SVV)...
- Regression mapping of association between the human leukocyte antigen region and Graves diseaseMatthew J Simmonds
Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, and Birmingham Heartlands Hospital, Birmingham B9 5SS, United Kingdom
Am J Hum Genet 76:157-63. 2005..However, we cannot yet exclude a primary role for DQA1 or for other polymorphisms that affect DRB1 function or expression...
- Polymorphisms of interleukin 4 receptor gene and interleukin 10 gene are not associated with Graves' disease in the UKKaren F Tait
Division of Medical Sciences, University of Birmingham, Birmingham B15 2TH, UK
Autoimmunity 37:189-94. 2004..We conclude these polymorphisms of IL-10 and IL-4R previously associated with other immune mediated diseases, do not confer susceptibility to GD in white Caucasians in the United Kingdom...
- Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' diseaseOliver J Brand
Institute of Biomedical Research, University of Birmingham, Edgbaston, West Midlands, UK
Hum Mol Genet 18:1704-13. 2009..8 x 10(-4)). In addition, we provide preliminary evidence that the disease-associated genotypes of rs179247 (AA) and rs12101255 (TT) show reduced mRNA expression ratios of flTSHR relative to two alternate TSHR mRNA splice variants...
- A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK CaucasiansJoanne M Heward
Division of Medical Sciences, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, UK, B15 2TT
Clin Endocrinol (Oxf) 61:269-72. 2004..The aim of this study was to determine whether this SNP of the CD40 gene confers susceptibility to GD in UK Caucasians...
- Genetic developments in autoimmune thyroid disease: an evolutionary processAbigail A Zeitlin
Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, Birmingham, B15 2TT, UK
Clin Endocrinol (Oxf) 68:671-82. 2008..Finally, large scale, ongoing genome-wide association studies in multiple autoimmune diseases (AID) states, including AITD seem likely to lead to the identification of additional MHC and non-MHC susceptibility loci...
- Polymorphism of the CTLA-4 gene is associated with autoimmune hypothyroidism in the United KingdomRatnasingam Nithiyananthan
Division of Medical Sciences, University of Birmingham, Birmingham Heartlands Hospital, United Kingdom
Thyroid 12:3-6. 2002..8.8% and 50% vs. 46% respectively; chi2 = 11.7, p = 0.003). These results suggest that the CTLA-4 gene region on chromosome 2q33 is a susceptibility locus for autoimmune hypothyroidism in the United Kingdom...
- Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP studyPaul R Newby
Centre for Endocrinology, Diabetes and Metabolism, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, Institute of Biomedical Research, University of Birmingham, Birmingham, West Midlands, UK
Eur J Hum Genet 18:1021-6. 2010..Our study confirms the need for large data sets and stringent analysis criteria when searching for susceptibility loci in common diseases...
- Exubera inhaled insulin in patients with type 1 and type 2 diabetes: the first 12 monthsVictoria Alabraba
Diabetes Centre, Selly Oak Hospital, University Hospital Birmingham NHS Foundation Trust, University of Birmingham, Birmingham, United Kingdom
Diabetes Technol Ther 11:427-30. 2009..Between January and October 2007, eight patients started Exubera: six because of needle phobia (DSM-IV criteria) and two with injection site problems...
- The genetics of autoimmune endocrine diseaseKaren F Tait
Division of Medical Sciences, University of Birmingham, Edgbaston and Birmingham Heartlands Hospital, Bordesley Green East, Birmingham, UK
Clin Endocrinol (Oxf) 59:1-11. 2003....
- Autoimmunity in thyroid diseaseJoanne Collins
Department of Medicine, University of Birmingham, Birmingham Heartlands Hospital, Bordesley Green East, Birmingham B9 5SS, UK
Eur J Nucl Med Mol Imaging 29:S417-24. 2002..This review will focus on some of the studies designed to identify genes that confer susceptibility to the autoimmune disease process within the thyroid gland...
- HLA , CTLA-4 and PTPN22 : the shared genetic master-key to autoimmunity?Oliver Brand
Department of Medicine, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, Wolfson Drive, Edgbaston, Birmingham, B15 2TT, UK
Expert Rev Mol Med 7:1-15. 2005....
- Donor ABCB1 Variant Associates with Increased Risk for Kidney Allograft FailureJason Moore
Department of Nephrology and Kidney Transplantation, University Hospital Birmingham, Queen Elizabeth Hospital, Birmingham, B15 2WB, United Kingdom
J Am Soc Nephrol 23:1891-9. 2012..84; 95% CI, 1.08-3.13; P=0.006). In conclusion, these data suggest that an ABCB1 variant known to alter protein expression represents an attractive candidate for future study and risk stratification in kidney transplantation...
- Management of peripheral arterial disease in primary carePaul Burns
Department of Vascular Surgery, University of Birmingham, Birmingham B9 5SS
BMJ 326:584-8. 2003
- Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune diseaseHironori Ueda
Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust MRC Building, Cambridge, CB2 2XY, UK
Nature 423:506-11. 2003..Genetic mapping of variants conferring a small disease risk can identify pathways in complex disorders, as exemplified by our discovery of inherited, quantitative alterations of CTLA4 contributing to autoimmune tissue destruction...
- FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunityManuela Fanciulli
Physiological Genomics and Medicine Group, UK Medical Research Council MRC Clinical Sciences Centre, Imperial College, London W12 0NN, UK
Nat Genet 39:721-3. 2007..Our findings suggest that low FCGR3B copy number, and in particular complete FCGR3B deficiency, has a key role in the development of systemic autoimmunity...
- Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locusDeborah Smyth
Juvenile Diabetes Research Foundation JDRF Wellcome Trust WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research CIMR, University of Cambridge, Cambridge, UK
Diabetes 53:3020-3. 2004..24 x 10(-4); OR 1.43 [95% CI 1.17-1.76]). Taken together, these results indicate a more general association of the PTPN22 locus with autoimmune disease...
- Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variantsPaul R Burton
Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK
Nat Genet 39:1329-37. 2007....
- Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetesEleftheria Zeggini
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
Science 316:1336-41. 2007..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
- A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et alMatthew J Simmonds
Arthritis Rheum 46:3109-10. 2002
- Parameters for reliable results in genetic association studies in common diseaseIngrid Dahlman
JDRF/WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 2XY, UK
Nat Genet 30:149-50. 2002..These results emphasize the need for large datasets, small P values and independent replication if results are to be reliable...
- The deleted in colorectal carcinoma (DCC) gene 201 R --> G polymorphism: no evidence for genetic association with autoimmune diseaseRichard J Hall
Department of Biochemistry, University of Otago, Dunedin, New Zealand
Eur J Hum Genet 11:840-4. 2003..Thus, the DCC 201 R --> G polymorphism does not appreciably influence risk of developing the autoimmune diseases tested...