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.
- Author:
Kyung Won HONG
1
;
Hyun Seok JIN
;
Ji Eun LIM
;
Min Jin GO
;
Jong Young LEE
;
Sue Yun HWANG
;
Hun Kuk PARK
;
Bermseok OH
Author Information
1. Department of Biomedical Engineering, School of Medicine,Kyung Hee University, Seoul 130-701, Korea. ohbs@khu.ac.kr
- Publication Type:Original Article
- Keywords:
CAP/TC10;
Glut 4;
insulin;
SNP;
type 2 diabetes mellitus
- MeSH:
Cell Membrane;
Diabetes Mellitus, Type 2;
Genetic Variation;
Glucose Transport Proteins, Facilitative;
Humans;
Insulin;
Logistic Models;
Polymorphism, Single Nucleotide;
Signal Transduction
- From:Genomics & Informatics
2009;7(2):53-56
- CountryRepublic of Korea
- Language:English
-
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.
