From genotype to human β cell phenotype and beyond.
Polygenic type 2 diabetes mellitus (T2DM) is a multi-factorial disease due to the interplay between genes and the environment. Over the years, several genes/loci have been associated with this type of diabetes, with the majority of them being related to β cell dysfunction. In this review, the available information on how polymorphisms in T2DM-associated genes/loci do directly affect the properties of human islet cells are presented and discussed, including some clinical implications and the role of epigenetic mechanisms.
Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy. piero.marchetti@med.unipi.it
Piero
P
Marchetti
Farooq
F
Syed
Mara
M
Suleiman
Marco
M
Bugliani
Lorella
L
Marselli
D018797:Cell Cycle Proteins / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D044127:Epigenesis, Genetic; D005838:Genotype; D006801:Humans; D050417:Insulin-Secreting Cells / Q000378:metabolism*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000037:antagonists & inhibitors / Q000235:genetics; D044122:Receptor, Melatonin, MT1 / Q000235:genetics; D044123:Receptor, Melatonin, MT2; D012097:Repressor Proteins / Q000235:genetics; D058118:Transcription Factor 7-Like 2 Protein / Q000235:genetics
D018797:Cell Cycle Proteins; C573871:MTNR1B protein, human; D044122:Receptor, Melatonin, MT1; D044123:Receptor, Melatonin, MT2; D012097:Repressor Proteins; C544894:TCF7L2 protein, human; C474831:TRIB3 protein, human; D058118:Transcription Factor 7-Like 2 Protein; D017346:Protein Serine-Threonine Kinases