TY - T1 - Human Physiology of Genetic Defects Causing Beta-cell Dysfunction SN - / UR - http://hdl.handle.net/10138/315269 T3 - A1 - Kettunen, Jarno L. T.; Tuomi, Tiinamaija A2 - PB - Y1 - 2020 LA - eng AB - The last decade has revealed hundreds of genetic variants associated with type 2 diabetes, many especially with insulin secretion. However, the evidence for their single or combined effect on beta-cell function relies mostly on genetic association of the variants or genetic risk scores with simple traits, and few have been functionally fully characterized even in cell or animal models. Translating the measured traits into human physiology is not straightforward: none of the various indices for b... VO - IS - SP - OP - KW - genetic defects; type 2 diabetes; human physiology; beta-cell function; GENOME-WIDE ASSOCIATION; GLUCOSE-TOLERANCE TEST; GASTRIC-INHIBITORY POLYPEPTIDE; HOMEOSTASIS MODEL ASSESSMENT; 1ST-PHASE INSULIN-SECRETION; FASTING PLASMA-GLUCOSE; GLYCEMIC TRAITS; NONDIABETIC SUBJECTS; PROINSULIN LEVELS; JUVENILE-ONSET; 3111 Biomedicine; 1182 Biochemistry, cell and molecular biology N1 - PP - ER -