Section on Genetics and Epidemiology, Research Division, Joslin Diabetes Center, Boston, MA 02215, USA.
Med Clin North Am. 2013 Jan;97(1):91-107. doi: 10.1016/j.mcna.2012.10.005. Epub 2012 Dec 7.
For more than 20 years, evidence in favor of a genetic basis for the susceptibility of DN in T2D has provided a foundation for studies aimed at identifying the causal genes responsible for its development. During this period, strategies used to map genes for DN have been driven by our understanding of variation across our genome and the technologies available to interrogate it; as both have evolved, so to have our approaches. The advent of next-generation sequencing technology and increased interest in the search for rare variants has begun to swing the pendulum of these efforts away from population-based studies and back to studies of pedigrees. As the field moves forward, family based approaches should greatly facilitate efforts to identify variants in genes that have a major affect on the risk of DN in T2D. To be successful, the ascertainment and comprehensive study of families with multiple affected members is critical.
二十多年来，支持 T2D 患者 DN 易感性存在遗传基础的证据为旨在识别导致其发生发展的因果基因的研究提供了基础。在此期间，用于定位 DN 相关基因的策略受到我们对基因组变异以及可用于研究这些变异的技术的理解的推动；随着这两方面的发展，我们的方法也在不断发展。新一代测序技术的出现以及对稀有变异搜索的日益增加的兴趣，已经开始使这些努力从基于人群的研究转向对家系的研究。随着该领域的发展，基于家族的方法应该极大地促进鉴定对 T2D 患者 DN 风险有重大影响的基因中的变异。为了取得成功，对具有多个受影响成员的家族进行确定和全面研究至关重要。
