University of North Carolina, 5096 Genetic Medicine, 120 Mason Farm Drive, Chapel Hill, NC 27599-7264, USA.
Curr Diab Rep. 2012 Dec;12(6):643-50. doi: 10.1007/s11892-012-0321-4.
A new generation of genetic studies of diabetes is underway. Following from initial genome-wide association (GWA) studies, more recent approaches have used genotyping arrays of more densely spaced markers, imputation of ungenotyped variants based on improved reference haplotype panels, and sequencing of protein-coding exomes and whole genomes. Experimental and statistical advances make possible the identification of novel variants and loci contributing to trait variation and disease risk. Integration of sequence variants with functional analysis is critical to interpreting the consequences of identified variants. We briefly review these methods and technologies and describe how they will continue to expand our understanding of the genetic risk factors and underlying biology of diabetes.
新一代的糖尿病遗传学研究正在进行中。在最初的全基因组关联（GWA）研究之后，最近的方法使用了更密集标记的基因分型阵列，基于改进的参考单倍型面板对未基因分型的变体进行了推测，以及对蛋白质编码外显子组和全基因组进行了测序。实验和统计方法的进步使得鉴定导致性状变异和疾病风险的新型变体和基因座成为可能。将序列变体与功能分析相结合对于解释鉴定出的变体的后果至关重要。我们简要回顾了这些方法和技术，并描述了它们将如何继续扩展我们对糖尿病遗传风险因素和潜在生物学的理解。
