生物谷综合：乳糜泻是一种自体免疫性疾病，患者对小麦、黑麦和大麦中的麸质蛋白质不耐受，引起小肠黏膜病变，因此也是一种原发性吸收不良综合征。该病在西方人群发病率约0.03%。
如今，研究人员在6月在线出版的《自然—遗传学》（Nature Genetics）上报告说，在4号染色体上含有4个与遗传关联性密切的基因的区域隐藏着一些变异，能够阻止乳糜泻症的发展。
通过对英国两组乳糜泻患者和非患者进行的研究，David van Heel和同事对乳糜泻症进行了全方位的遗传相关性分析。他们在含有IL2、IL21、TENR和KIAA1109基因的区域中鉴别出一种保护型的变异。KIAA1109是一种功能尚不确定的预测基因。这种相关性反复出现在荷兰和爱尔兰人群中。基因IL2和IL21被认为是解释这种相关性的最可能基因，因为它们编码白细胞介素—2和白细胞介素—21的基因，而这两种白细胞介素与其他的肠道炎症有关。
要确定出这种变异如何防止乳糜泻症发生的机制，还需要绘制出这一区域的详细基因图谱。（援引科学时报）
原始出处:
Nature Genetics
Published online: 10 June 2007 | doi:10.1038/ng2058
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
David A van Heel1, Lude Franke2,17, Karen A Hunt1,17, Rhian Gwilliam3,17, Alexandra Zhernakova2, Mike Inouye3, Martin C Wapenaar4, Martin C N M Barnardo5, Graeme Bethel3, Geoffrey K T Holmes6, Con Feighery7, Derek Jewell8, Dermot Kelleher7, Parveen Kumar1, Simon Travis9, Julian RF Walters10, David S Sanders11, Peter Howdle12, Jill Swift13, Raymond J Playford1, William M McLaren3, M Luisa Mearin14,15, Chris J Mulder16, Ross McManus7, Ralph McGinnis3, Lon R Cardon8, Panos Deloukas3 & Cisca Wijmenga2,4
Abstract
We tested 310,605 SNPs for association in 778 individuals with celiac disease and 1,422 controls. Outside the HLA region, the most significant finding (rs13119723; P = 2.0 10-7) was in the KIAA1109-TENR-IL2-IL21 linkage disequilibrium block. We independently confirmed association in two further collections (strongest association at rs6822844, 24 kb 5' of IL21; meta-analysis P = 1.3 10-14, odds ratio = 0.63), suggesting that genetic variation in this region predisposes to celiac disease.
Centre for Gastroenterology, Institute of Cell and Molecular Science, Queen Mary University of London, London E1 2AT, UK.
Complex Genetics Section, Department of Biomedical Genetics, University Medical Center Utrecht, 3584 CG Utrecht, The Netherlands.
Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Genetics Department, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.
Transplant Immunology, Oxford Transplant Centre, Churchill Hospital, Oxford OX3 7LJ, UK.
Department of Gastroenterology, Derbyshire Royal Infirmary, London Road, Derby DE1 2QY, UK.
Departments of Clinical Medicine and Immunology, Institute of Molecular Medicine, Trinity College Dublin, Dublin, Ireland.
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Gastroenterology Unit, University of Oxford, Oxford OX3 7BN, UK.
Gastroenterology Section, Imperial College London, Hammersmith Hospital, London W12 0HS, UK.
Department of Gastroenterology and Liver Unit, Royal Hallamshire Hospital, Sheffield S10 2JF, UK.
Department of Gastroenterology, St. James's University Hospital, Leeds LS9 7TF, UK.
Department of Gastroenterology, Llandough Hospital, Penarth CF64 2XX, UK.
Department of Paediatric Gastroenterology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
Department of Pediatric Gastroenterology, Vrije University Medical Center, 1007 MB Amsterdam, The Netherlands.
Department of Gastroenterology, Vrije University Medical Center, 1007 MB Amsterdam, The Netherlands.
These authors contributed equally to this work.
Correspondence to: David A van Heel1 e-mail: d.vanheel@qmul.ac.uk
