CpG number | Region | Gene/ element | Full name | Function |
---|---|---|---|---|
cg14123607 | Intron 1/insulator | APBA1 | Amyloid beta A4 precursor protein-binding family A member 1 | Associated with reduced production of amyloid-β peptide, which is considered a key player in Alzheimer's disease [52] |
cg12170649 | Intron 2/enhancer | APPL2 | Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 | Involved in cell proliferation and embryonic development. Acts as negative controller of adiponectin signaling and SNPs in APPL2 have been associated with obesity [53–55] |
cg26404226 | Enhancer | Chr10q23.3 | ||
cg15487251a | Promoter | IGF2BP2 | Insulin-like growth factor 2 mRNA-binding protein 2 | mRNA binding protein involved in RNA localization, stability and translation. Intronic SNP in IGF2BP2 has been identified as T2D risk factor by several GWAS [56] |
cg10362113a | Intron 1/weak enhancer | PAPOLA | Poly(A) polymerase alpha | Plays a predominant role in addition of the 3'-poly(A) tail to mRNA precursors, which is important for mRNA stability, transport and translation [57] |
cg02409150 | Intron 4 | PHKG2 | Phosphorylase kinase, gamma 2 (testis) | Encodes the gamma subunit of the liver-specific phosphorylase kinase, which activates the enzyme glycogen phosphorylase, resulting in glycogen breakdown [58] |
cg15049370a | Intron 2/enhancer | PPARGC1B | Peroxisome proliferator-activated receptor gamma coactivator 1-beta | Multifunctional transcriptional co-regulator involved in many metabolic processes, including mitochondrial oxidative metabolism and hepatic lipogenesis [59] |
cg22768222 | Intron 1/weak enhancer | RUNX2 | Runt-related transcription factor 2 | Transcription factor essential for osteoblast and chondrocyte differentiation [60] |