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Genome-Wide Association Which Do You Want First: the Good News, the Bad News, or the Good News?

机译:全基因组协会您首先想要哪个:好消息,坏消息还是好消息?

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摘要

It has long been appreciated that there is a genetic component to type 2 diabetes, but progress in gene finding has been slow because the genetic component is complex. Accumulating data on various diabetes-related phenotypes suggest that so-called "type 2 diabetes" is likely a collection of many diseases due to varying but often overlapping underlying mechanisms. As such, the search for the once hoped-for simple genetic basis of type 2 diabetes has proved elusive. This year marks the application of the next gene-finding tool to the study of type 2 diabetes, the genome-wide association study (GWA). This type of study is the logical extension of the candidate gene association study, an approach in which a few (1-20 or so) single nucleotide polymorphisms (SNPs) within a single gene are tested for association with the phenotype of interest. By that approach, the candidate gene is chosen based on biochemistry or physiology related to that phenotype. The candidate gene approach has identified some genes but has not yielded the definitive picture of the genetic contribution to type 2 diabetes (Table 1; reviewed in [1]).
机译:长期以来人们一直认为2型糖尿病具有遗传成分,但是由于遗传成分很复杂,因此基因发现的进展缓慢。关于各种与糖尿病相关的表型的累积数据表明,所谓的“ 2型糖尿病”可能是多种疾病的集合,这是由于机制不同但经常相互重叠。因此,寻找曾经希望获得的2型糖尿病的简单遗传基础已变得难以捉摸。今年标志着下一个基因发现工具在2型糖尿病研究中的应用,即全基因组关联研究(GWA)。这种类型的研究是候选基因关联研究的逻辑延伸,该方法是测试单个基因内的几个(1-20个左右)单核苷酸多态性(SNP)与目标表型的关联。通过该方法,基于与该表型有关的生物化学或生理学来选择候选基因。候选基因方法已经鉴定出一些基因,但没有给出对2型糖尿病遗传贡献的确切描述(表1;在[1]中进行了综述)。

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