一个国际研究小组２１日在《自然·遗传学》杂志网络版上发表论文指出，在对人体基因组的分析中，他们发现了两个与强直性脊柱炎相关的基因。
强直性脊柱炎相关新闻 >>领导此项研究的美国弗雷德·哈钦森癌症研究中心发表公报指出，研究小组选取了数千名患有一些常见疾病的患者和数量相当的健康人群，然后对他们进行人体全基因组“扫描”对比分析。结果发现，ＡＲＴＳ１和ＩＬ２３Ｒ两个基因与强直性脊柱炎的发病有关。
之前的研究曾发现基因ＨＬＡ－Ｂ２７与强直性脊柱炎有关。因此，目前科学家已知的与强直性脊柱炎发病相关的基因已有３个。研究小组在论文中指出，如果一个人携带了这三种基因的变异版本，他患这种病的可能性就很高。
强直性脊柱炎是一种可以致残的关节炎。发病后患者脊柱疼痛，病情会越来越严重，最后患者脊柱的部分甚至全部椎骨间隙消失，从而使脊柱僵硬。除脊柱外，这种病还会对其他关节以及心脏、肺、眼睛等器官造成损害。
研究小组介绍说，此前研究还发现ＩＬ２３Ｒ基因与炎性肠道疾病和牛皮癣的发病有关。临床研究也发现，炎性肠道疾病患者同时患上强直性脊柱炎和牛皮癣的可能性很高。因此，这一新研究成果提供了有力的遗传学证据，解释这几种疾病易同时发病的原因。
借助新的基因分析结果，研究人员下一步打算研究这些基因致病的具体机理，从而最终改善对这几种疾病的诊断方法以及开发新型药物。（环球财经新闻）
原始出处:
Nature Genetics
Published online: 21 October 2007 | doi:10.1038/ng.2007.17
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
Wellcome Trust Case Control ConsortiumThe Australo-Anglo-American Spondylitis Consortium (TASC)
Abstract
We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.
Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK.
Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC Building, Cambridge CB2 0XY, UK.
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
Department of Psychological Medicine, Henry Wellcome Building, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
The Wellcome Trust, Gibbs Building, 215 Euston Road, London NW1 2BE, UK.
Oxford Centre for Diabetes, Endocrinology and Medicine, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK.
Department of Haematology, University of Cambridge, Long Road, Cambridge CB2 2PT, UK.
National Health Service Blood and Transplant, Cambridge Centre, Long Road, Cambridge CB2 2PT, UK.
Department of Cardiovascular Sciences, University of Leicester, Glenfield Hospital, Groby Road, Leicester LE3 9QP, UK.
Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK.
Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK.
National Health Service Blood and Transplant, Sheffield Centre, Longley Lane, Sheffield S5 7JN, UK.
National Health Service Blood and Transplant, Brentwood Centre, Crescent Drive, Brentwood CM15 8DP, UK.
The Welsh Blood Service, Ely Valley Road, Talbot Green, Pontyclun CF72 9WB, UK.
The Scottish National Blood Transfusion Service, Ellen's Glen Road, Edinburgh EH17 7QT, UK.
National Health Service Blood and Transplant, Southampton Centre, Coxford Road, Southampton SO16 5AF, UK.
Avon Longitudinal Study of Parents and Children, University of Bristol, 24 Tyndall Avenue, Bristol BS8 1TQ, UK.
Division of Community Health Services, St. George's University of London, Crammer Terrace, London SW17 0RE, UK.
Institute of Child Health, University College London, 30 Guilford St., London WC1N 1EH, UK.
University of Aberdeen, Institute of Medical Sciences, Foresterhill, Aberdeen AB25 2ZD, UK.
Department of Psychiatry, Division of Neuroscience, Birmingham University, Birmingham B15 2QZ, UK.
Department of Psychological Medicine, Henry Wellcome Building, School of Medicine, Cardiff Univeristy, Heath Park, Cardiff CF14 4XN, UK.
SGDP, The Institute of Psychiatry, King's College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK.
School of Neurology, Neurobiology and Psychiatry, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK.
LIGHT and LIMM Research Institutes, Faculty of Medicine and Health, University of Leeds, Leeds LS1 3EX, UK.
IBD Research Group, Addenbrooke's Hospital, University of Cambridge, Cambridge CB2 2QQ, UK.
Gastrointestinal Unit, School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU UK.
Department of Medical & Molecular Genetics, King's College London School of Medicine, 8th Floor Guy's Hospital, London SE1 9RT, UK.
Institute for Digestive Diseases, University College London Hospitals Trust, London NW1 2BU, UK.
Department of Gastroenterology, Guy's and St. Thomas' NHS Foundation Trust, London SE1 7EH, UK.
Department of Gastroenterology & Hepatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK.
Gastroenterology Unit, Radcliffe Infirmary, University of Oxford, Oxford OX2 6HE, UK.
Medicine and Therapeutics, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, Grampian AB9 2ZB, UK.
Clinical Pharmacology Unit and the Diabetes and Inflammation Laboratory, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK.
Centre National de Genotypage, 2 Rue Gaston Cremieux, Evry, Paris 91057, France.
BHF Glasgow Cardiovascular Research Centre, University of Glasgow, 126 University Place, Glasgow G12 8TA, UK.
Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and The London, Queen Mary's School of Medicine, Charterhouse Square, London EC1M 6BQ, UK.
Cardiovascular Medicine, University of Oxford, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.
arc Epidemiology Research Unit, University of Manchester, Stopford Building, Oxford Rd, Manchester M13 9PT, UK.
Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge, CB2 2QQ, UK.
Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter EX1 2LU, UK.
Diabetes Genetics, Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DU UK.
Centre for Diabetes and Metabolic Medicine, Barts and The London, Royal London Hospital, Whitechapel, London E1 1BB, UK.
Diabetes Research Group, School of Clinical Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.
The MRC Centre for Causal Analyses in Translational Epidemiology, Bristol University, Canynge Hall, Whiteladies Rd., Bristol BS2 8PR, UK.
MRC Laboratories, Fajara, The Gambia.
Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, University of Queensland, Woolloongabba, Queensland 4102, Australia.
Botnar Research Centre, University of Oxford, Headington, Oxford OX3 7BN, UK.
Department of Medicine, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton SM2 5NG, UK.
Cancer Genome Project, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK.
Illumina Cambridge, Chesterford Research Park, Little Chesterford, NR Saffron Walden, Essex CB10 1XL, UK.
Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, Washington 98109, USA.
University of Newcastle, Institute for Human Genetics, Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Rheumatology and Clinical Immunogenetics, University of Texas-Houston Medical School, Houston, Texas 77030, USA.
Diamantina Institute for Cancer, Immunology and Metabolic Medicine, University of Queensland, Brisbane 4072, Australia.
Statistical Genetics, Wellcome Trust Centre for Human Genetics, Oxford OX37BN, UK.
Department of Rheumatology, University of California, San Francisco, California 94143, USA.
Botnar Research Centre, University of Oxford, Oxford OX37BN, UK.
The Spondylitis Association of America, Sherman Oaks, California 91403, USA.
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.
Department of Radiology, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
Department of Medicine/Rheumatology, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
Correspondence to: e-mail: lcardon@fhcrc.org
Correspondence to: e-mail: davide@well.ox.ac.uk
