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
Genomics & Informatics
; : 53-56, 2009.
Article
在 En
| WPRIM
| ID: wpr-190154
Responsible library:
WPRO
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.
Key words
全文:
1
索引:
WPRIM
主要主题:
Genetic Variation
/
Signal Transduction
/
Logistic Models
/
Cell Membrane
/
Polymorphism, Single Nucleotide
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Diabetes Mellitus, Type 2
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Glucose Transport Proteins, Facilitative
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Insulin
研究类型:
Diagnostic_studies
/
Risk_factors_studies
限制:
Humans
语言:
En
期刊:
Genomics & Informatics
年:
2009
类型:
Article