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【medical-news】2型糖尿病又发现新的易感基因
Multiple Susceptibility Variants
The four newly identified genes--CDKN2A, CDKN2B, both lying on chromosome 9; IGF2BP2, which lies on chromosome 3; and CDKAL1--were identified through a genomewide association study, an analysis that allows investigators to scan thousands of individuals' genomes to identify single nucleotide polymorphisms (SNPs). The international team also confirmed previous findings that six other genetic variants--TCF7L2, SLC30A8, HHEX, PPARG, KCNJ11, and FTO--are associated with an increased risk of developing diabetes.
"While large samples and collaboration between three groups were required, we can confidently state that new diabetes risk factors have been identified," write lead author Dr Laura Scott (University of Michigan, Ann Arbor) and colleagues in the in the April 26, 2007 issue of Science. "Each gene discovery points to a pathway that contributes to pathogenesis, and all of these proteins and their relevant pathways represent potential drug targets for the prevention or treatment of diabetes."
The findings emerge from the work of the Diabetes Genetics Initiative (DGI), a public-private partnership established in 2004 between the Broad Institute of Harvard University and Massachusetts Institute of Technology, Lund University in Finland, and Novartis. Investigators from the Wellcome Trust Case Control Consortium/UK Type 2 Diabetes Genetics Consortium and the National Human Genome Research Institute, a branch of the National Institutes of Health, also participated in the study.
Genomewide association study
First-degree relatives of those with diabetes mellitus are at 3.5 times higher risk of developing diabetes than the general population, but to date identifying genetic risk factors in diabetes has met with limited success. To further define the "genetic architecture" of the disease and identify biological pathways involved in disease pathogenesis, the investigators genotyped 1161 Finnish patients with type 2 diabetes mellitus and 1174 Finnish subjects with normal glucose tolerance who participated in the Finland-United States Investigation of NIDDN Genetics (FUSION) and national FINRISK studies.
After carrying out an association analysis of the SNPs, investigators identified and confirmed three novel regions of the genome that influence the risk of type 2 diabetes. The three variations are located near genes believed to regulate insulin and those thought responsible for the growth of cells in the pancreas that produce insulin. In addition to identifying CDKN2A/CDKN2B, IGF2BP2, and CDKAL1, investigators also identified a region of chromosome 11 not previously known to contain any of the annotated genes.
These results were then replicated in two independent samples, first from the Wellcome Case Control Consortium and the second from genome scans of Swedish and Finnish participants in the DGI. The previously identified variants--TCF7L2, SLC30A8, HHEX, PPARG, KCNJ11 and FTO--were also confirmed by investigators, boosting to 10 the number of genetic variants that are believed to play a role in the development of diabetes.
The researchers then scanned the genome of the Finnish participants for all 10 diabetes-associated genetic variants and constructed a logistic regression model to predict diabetes risk for each person. In doing so, they identified a subset of individuals with up to a four-times-higher risk of developing the disease, a finding with "potential interest for a personalized preventive medicine program," the group writes. 本人已认领该文编译，48小时后若未提交译文，请其他战友自由认领 初译：
A Genome-Wide Association Study of Type 2 Diabetes in Finns Detect 一项芬兰人2型糖尿病染色体相关研究
谍影重重 wrote:
《科学》刊物中2007年4月26号的作者Dr Laura Scott（密西根州Ann Arbor大学）报道[标签:content1][标签:content2]阅读本文的人还阅读：
作者:admin@医学,生命科学 2011-03-13 05:12
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