生物谷：科學(xué)家新發(fā)現(xiàn)一種與Ⅰ型糖尿病發(fā)病相關(guān)的基因，這一發(fā)現(xiàn)有助于開發(fā)防治糖尿病的新手段,。
美國費(fèi)城兒童醫(yī)院和加拿大麥基爾大學(xué)的科學(xué)家7月15日在英國《自然》雜志網(wǎng)絡(luò)版上報(bào)告說,，他們?cè)趯?duì)500多名Ⅰ型糖尿病患者和1000多名健康人的基因組進(jìn)行分析后發(fā)現(xiàn)，一種名為“KIAA0350”的基因?qū)τ谌嘶饥裥吞悄虿〉娘L(fēng)險(xiǎn)會(huì)產(chǎn)生較大影響,。
研究結(jié)果顯示,，“KIAA0350”基因存在兩個(gè)版本，攜帶某一版本基因的人患Ⅰ型糖尿病的風(fēng)險(xiǎn)會(huì)增加50%,，而攜帶另一版本基因的人則不會(huì)患上Ⅰ型糖尿病,。
此前的研究曾先后發(fā)現(xiàn)過4個(gè)與Ⅰ型糖尿病發(fā)病相關(guān)的基因?？茖W(xué)家稱,，新發(fā)現(xiàn)的“KIAA0350”是已知5個(gè)類似基因中對(duì)人患Ⅰ型糖尿病風(fēng)險(xiǎn)影響最大的。
科學(xué)家認(rèn)為,，進(jìn)一步加深對(duì)“KIAA0350”基因和其他與Ⅰ型糖尿病發(fā)病相關(guān)的遺傳因素的了解,，不僅可幫助醫(yī)務(wù)人員通過普查識(shí)別高危新生兒，也有助于開發(fā)治療糖尿病的新手段,。
Ⅰ型糖尿病又稱胰島素依賴型糖尿病,，通常是由于人體免疫系統(tǒng)失調(diào),，造成胰腺貝塔細(xì)胞受損，不能正常分泌甚至停止分泌胰島素而導(dǎo)致的,。Ⅰ型糖尿病發(fā)病多在青少年,。（新華網(wǎng)）
原始出處:
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: [email protected]) or C.P. (Email: [email protected]).
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.
