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Genomics Inform > Volume 7(2); 2009 > Article
DOI: https://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.
Kyung Won Hong, Hyun Seok Jin, Ji Eun Lim, Min Jin Go, Jong Young Lee, Sue Yun Hwang, Hun Kuk Park, Bermseok Oh
1Department of Biomedical Engineering, School of Medicine,Kyung Hee University, Seoul 130-701, Korea. ohbs@khu.ac.kr
2Center for Genome Science, National Institute of Health, Seoul 122-701, Korea.
3Graduate School of Informatics and Biotechnology, Hankyung National University, Ansung 456-749, Korea.
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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