Adams J D, Vella Adrian
Endocrine Research Unit, Department of Endocrinology, Diabetes and Nutrition, Mayo Clinic College of Medicine , Rochester, Minnesota.
Metab Syndr Relat Disord. 2018 Oct;16(8):383-389. doi: 10.1089/met.2018.0024. Epub 2018 Jul 11.
Type 2 diabetes mellitus (T2DM) is a polygenic metabolic disorder characterized by hyperglycemia occurring as a result of impaired insulin secretion and/or insulin resistance. Among the various genetic factors associated with T2DM, a common genetic variant within the transcription factor 7-like 2 locus (TCF7L2) confers the greatest genetic risk for development of the disease. However, the mechanism(s) by which TCF7L2 predisposes to diabetes remain uncertain. Here we review the current literature pertaining to the potential mechanisms by which TCF7L2 confers risk of T2DM, using genetic variation as a probe to understand the pathogenesis of the disease.
2型糖尿病（T2DM）是一种多基因代谢紊乱疾病，其特征为由于胰岛素分泌受损和/或胰岛素抵抗导致的高血糖。在与T2DM相关的各种遗传因素中，转录因子7样2基因座（TCF7L2）内的一种常见遗传变异赋予了该疾病发生的最大遗传风险。然而，TCF7L2导致糖尿病的机制仍不确定。在此，我们回顾了当前有关TCF7L2赋予T2DM风险的潜在机制的文献，利用基因变异作为探针来了解该疾病的发病机制。
