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. 2021 Mar 25;29(Suppl 1):351–358. doi: 10.3233/THC-218033

Table 1, continued

Gene name Mutation locus Gene function
GRK5 rs10886471 Protein-coupled receptor kinase 5 (GRK5) rs10886471 belongs to the family of protein kinases and plays a key role in the phosphorylation of various GPCR and non-GPCR matrices, such as the glucagon receptor, the Hsp70-interacting protein, and the nuclear factor kB1/p105, which regulate blood sugar levels.
RASGRP1 rs7403531 This site is located in the second intron of the RASGRP1 gene. The RASGRP1 gene is highly expressed in lymphocytes. The loss of function of this gene in beta-cells leads to islet inflammation and impairs the function of beta cells. These factors are associated with T2DM.
HHEX rs1111875 Hematopoietic stem cell expression homeobox gene (HHEX) rs1111875G/A polymorphism is associated with GDM; G allele may be its risk allele, and HHEX gene may be one of the GDM (gestational diabetes) susceptibility genes in the region.
PTPRD rs17584499 The PTPRD gene is widely expressed in muscle and pancreatic tissues and is highly expressed in the brain. Mice lacking the PTPRD gene also have memory and cognitive disorders. PTPRD belongs to the protein tyrosine phosphorylase subfamily receptor type IIA (R2A), and R2A consists of LAR, PTPRS, and PTPRD.