生物谷：科学家新发现一种与Ⅰ型糖尿病发病相关的基因，这一发现有助于开发防治糖尿病的新手段。
美国费城儿童医院和加拿大麦基尔大学的科学家7月15日在英国《自然》杂志网络版上报告说，他们在对500多名Ⅰ型糖尿病患者和1000多名健康人的基因组进行分析后发现，一种名为“KIAA0350”的基因对于人患Ⅰ型糖尿病的风险会产生较大影响。
研究结果显示，“KIAA0350”基因存在两个版本，携带某一版本基因的人患Ⅰ型糖尿病的风险会增加50%，而携带另一版本基因的人则不会患上Ⅰ型糖尿病。
此前的研究曾先后发现过4个与Ⅰ型糖尿病发病相关的基因。科学家称，新发现的“KIAA0350”是已知5个类似基因中对人患Ⅰ型糖尿病风险影响最大的。
科学家认为，进一步加深对“KIAA0350”基因和其他与Ⅰ型糖尿病发病相关的遗传因素的了解，不仅可帮助医务人员通过普查识别高危新生儿，也有助于开发治疗糖尿病的新手段。
Ⅰ型糖尿病又称胰岛素依赖型糖尿病，通常是由于人体免疫系统失调，造成胰腺贝塔细胞受损，不能正常分泌甚至停止分泌胰岛素而导致的。Ⅰ型糖尿病发病多在青少年。（新华网）
原始出处:
Nature advance online publication 15 July 2007 | doi:10.1038/nature06010; Received 30 April 2007; Accepted 11 June 2007; Published online 15 July 2007
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
Hakon Hakonarson1,3,12, Struan F. A. Grant1,3,12, Jonathan P. Bradfield1,12, Luc Marchand5, Cecilia E. Kim1, Joseph T. Glessner1, Rosemarie Grabs5, Tracy Casalunovo1, Shayne P. Taback6, Edward C. Frackelton1, Margaret L. Lawson7, Luke J. Robinson1, Robert Skraban1, Yang Lu5, Rosetta M. Chiavacci1, Charles A. Stanley4, Susan E. Kirsch8, Eric F. Rappaport9, Jordan S. Orange10, Dimitri S. Monos2,10, Marcella Devoto3,11, Hui-Qi Qu5 & Constantin Polychronakos5
Center for Applied Genomics, and,
Department of Pathology and Laboratory Medicine, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Department of Pediatrics and Division of Human Genetics, and,
Division of Endocrinology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Departments of Pediatrics and Human Genetics, McGill University, Montreal H3H 1P3, Québec, Canada
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg R3E 0Z2, Manitoba, Canada
Division of Endocrinology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa K1H 8L1, Ontario, Canada
Markham-Stouffville Hospital, Markham L3P 7P3, Ontario, Canada
The Children's Hospital of Philadelphia Nucleic Acid and Protein Core, Philadelphia, Pennsylvania 19104, USA
Department of Pediatrics, University of Pennsylvania, School of Medicine, Philadelphia, Pennsylvania 19104, USA
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
These authors contributed equally to this work.
Correspondence to: Hakon Hakonarson1,3,12Constantin Polychronakos5 Correspondence and requests for materials should be addressed to H.H. (Email: hakonarson@chop.edu) or C.P. (Email: constantin.polychronakos@mcgill.ca).
Type 1 diabetes (T1D) in children results from autoimmune destruction of pancreatic beta cells, leading to insufficient production of insulin1. A number of genetic determinants of T1D have already been established through candidate gene studies, primarily within the major histocompatibility complex2, 3, 4 but also within other loci5, 6, 7, 8, 9, 10, 11, 12. To identify new genetic factors that increase the risk of T1D, we performed a genome-wide association study in a large paediatric cohort of European descent. In addition to confirming previously identified loci2, 3, 4, 5, 6, 7, 8, 9, we found that T1D was significantly associated with variation within a 233-kb linkage disequilibrium block on chromosome 16p13. This region contains KIAA0350, the gene product of which is predicted to be a sugar-binding, C-type lectin. Three common non-coding variants of the gene (rs2903692, rs725613 and rs17673553) in strong linkage disequilibrium reached genome-wide significance for association with T1D. A subsequent transmission disequilibrium test replication study in an independent cohort confirmed the association. These results indicate that KIAA0350 might be involved in the pathogenesis of T1D and demonstrate the utility of the genome-wide association approach in the identification of previously unsuspected genetic determinants of complex traits.
