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http://dx.doi.org/10.5808/GI.2009.7.2.053

Identification of Genetic Variations in CBL, SORBS1, CRK, and RHOQ, Key Modulators in the CAP/TC10 Pathway of Insulin Signal Transduction, and Their Association with Type 2 Diabetes Mellitus in the Korean Population  

Hong, Kyung-Won (Department of Biomedical Engineering, School of Medicine, Kyung Hee University)
Jin, Hyun-Seok (Department of Biomedical Engineering, School of Medicine, Kyung Hee University)
Lim, Ji-Eun (Department of Biomedical Engineering, School of Medicine, Kyung Hee University)
Go, Min-Jin (Center for Genome Science, National Institute of Health)
Lee, Jong-Young (Center for Genome Science, National Institute of Health)
Hwang, Sue-Yun (Graduate School of Informatics and Biotechnology, Hankyung National University)
Park, Hun-Kuk (Department of Biomedical Engineering, School of Medicine, Kyung Hee University)
Oh, Berm-Seok (Department of Biomedical Engineering, School of Medicine, Kyung Hee University)
Publication Information
Genomics & Informatics / v.7, no.2, 2009 , pp. 53-56 More about this Journal
Abstract
Recent evidence has strongly suggested that the CAP/TC10 pathway is involved in the trafficking, docking, and fusion of vesicles containing the insulin-responsive glucose transporter Glut4 to the plasma membrane. However, little is known about how the genes employed in the CAP/TC10 pathway are associated with the development of type 2 diabetes mellitus. In this study, we sequenced 4 genes of the CAP/TC10 pathway [SORBS1, CBL, CRK, and RHOQ] in 24 individuals to identify genetic variations in these loci. A total of 48 sequence variants were identified, including 23 novel variations. To investigate the possible association with type 2 diabetes mellitus, 3 single nucleotide polymorphisms from SORBS1, 3 from CBL, and 4 from RHOQ were genotyped in 1122 Korean type 2 diabetic patients and 1138 nondiabetic controls. Using logistic regression analysis, 1 significant association between SNP rs1376405 in RHOQ and type 2 diabetes mellitus [OR = 8.714 (C.I. 1.714-44.29), p = 0.009] was found in the recessive model. Our data demonstrate a positive association of the RHOQ gene in the CAP/TC10 pathway with T2DM in the Korean population.
Keywords
CAP/TC10; Glut 4; insulin; SNP; type 2 diabetes mellitus;
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