RAPGEF1 gene variants associated with type 2 diabetes in the Korean population

Kyung Won Hong; Hyun Seok Jin; Ji Eun Lim; Ha Jung Ryu; Min Jin Go; Jong Young Lee; Jeong Taek Woo; Hun Kuk Park; Bermseok Oh

doi:10.1016/j.diabres.2009.02.019

RAPGEF1 gene variants associated with type 2 diabetes in the Korean population

Kyung Won Hong, Hyun Seok Jin, Ji Eun Lim, Ha Jung Ryu, Min Jin Go, Jong Young Lee, Jeong Taek Woo, Hun Kuk Park, Bermseok Oh

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

Abstract

Under the activation of insulin receptors, glucose transporter 4 (Glut4) translocation is regulated by two signal transduction pathways. These pathways are the PI 3-kinase-dependent pathway and the CAP/TC10 pathway. The adaptor protein Rap guanine exchange factor 1 (RAPGEF1) also known as C3G is a component of the CAP/TC10 pathway. Defects in the RAPGEF1 protein may contribute to insulin resistance and type 2 diabetes. Recently, the RAPGEF1 gene was suggested to be involved in the development of type 2 diabetes by FUSION study. To investigate this association in the Korean population, we sequenced the RAPGEF1 gene in 24 unrelated individuals and identified 39 sequence variants. Eleven single nucleotide polymorphisms (SNPs) were selected and genotyped in 1122 Korean patients with type 2 diabetes. There were 1138 non-diabetic controls. Using a logistic regression analysis, a significant association was found between SNP rs11243444 in the RAPGEF1 gene and type 2 diabetes [OR = 0.490 (95% CI 0.296-0.813), p = 0.006] in the recessive model, leading the protective effect of the GG genotype on the disease development. The present study examines genetic polymorphisms in the RAPGEF1 gene, and the positive association between one polymorphism and type 2 diabetes in the Korean population.

Original language	English
Pages (from-to)	117-122
Number of pages	6
Journal	Diabetes Research and Clinical Practice
Volume	84
Issue number	2
DOIs	https://doi.org/10.1016/j.diabres.2009.02.019
Publication status	Published - May 2009

Bibliographical note

Funding Information:
This research was supported by the Kyung Hee University Research Fund in 2008 (KHU-20080553).

Keywords

C3G
Glut4
RAPGEF1
SNPs
Type 2 diabetes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.diabres.2009.02.019

Cite this

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title = "RAPGEF1 gene variants associated with type 2 diabetes in the Korean population",

abstract = "Under the activation of insulin receptors, glucose transporter 4 (Glut4) translocation is regulated by two signal transduction pathways. These pathways are the PI 3-kinase-dependent pathway and the CAP/TC10 pathway. The adaptor protein Rap guanine exchange factor 1 (RAPGEF1) also known as C3G is a component of the CAP/TC10 pathway. Defects in the RAPGEF1 protein may contribute to insulin resistance and type 2 diabetes. Recently, the RAPGEF1 gene was suggested to be involved in the development of type 2 diabetes by FUSION study. To investigate this association in the Korean population, we sequenced the RAPGEF1 gene in 24 unrelated individuals and identified 39 sequence variants. Eleven single nucleotide polymorphisms (SNPs) were selected and genotyped in 1122 Korean patients with type 2 diabetes. There were 1138 non-diabetic controls. Using a logistic regression analysis, a significant association was found between SNP rs11243444 in the RAPGEF1 gene and type 2 diabetes [OR = 0.490 (95% CI 0.296-0.813), p = 0.006] in the recessive model, leading the protective effect of the GG genotype on the disease development. The present study examines genetic polymorphisms in the RAPGEF1 gene, and the positive association between one polymorphism and type 2 diabetes in the Korean population.",

keywords = "C3G, Glut4, RAPGEF1, SNPs, Type 2 diabetes",

author = "Hong, {Kyung Won} and Jin, {Hyun Seok} and Lim, {Ji Eun} and Ryu, {Ha Jung} and Go, {Min Jin} and Lee, {Jong Young} and Woo, {Jeong Taek} and Park, {Hun Kuk} and Bermseok Oh",

note = "Funding Information: This research was supported by the Kyung Hee University Research Fund in 2008 (KHU-20080553). ",

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AU - Hong, Kyung Won

AU - Jin, Hyun Seok

AU - Lim, Ji Eun

AU - Ryu, Ha Jung

AU - Go, Min Jin

AU - Lee, Jong Young

AU - Woo, Jeong Taek

AU - Park, Hun Kuk

AU - Oh, Bermseok

N1 - Funding Information: This research was supported by the Kyung Hee University Research Fund in 2008 (KHU-20080553).

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N2 - Under the activation of insulin receptors, glucose transporter 4 (Glut4) translocation is regulated by two signal transduction pathways. These pathways are the PI 3-kinase-dependent pathway and the CAP/TC10 pathway. The adaptor protein Rap guanine exchange factor 1 (RAPGEF1) also known as C3G is a component of the CAP/TC10 pathway. Defects in the RAPGEF1 protein may contribute to insulin resistance and type 2 diabetes. Recently, the RAPGEF1 gene was suggested to be involved in the development of type 2 diabetes by FUSION study. To investigate this association in the Korean population, we sequenced the RAPGEF1 gene in 24 unrelated individuals and identified 39 sequence variants. Eleven single nucleotide polymorphisms (SNPs) were selected and genotyped in 1122 Korean patients with type 2 diabetes. There were 1138 non-diabetic controls. Using a logistic regression analysis, a significant association was found between SNP rs11243444 in the RAPGEF1 gene and type 2 diabetes [OR = 0.490 (95% CI 0.296-0.813), p = 0.006] in the recessive model, leading the protective effect of the GG genotype on the disease development. The present study examines genetic polymorphisms in the RAPGEF1 gene, and the positive association between one polymorphism and type 2 diabetes in the Korean population.

AB - Under the activation of insulin receptors, glucose transporter 4 (Glut4) translocation is regulated by two signal transduction pathways. These pathways are the PI 3-kinase-dependent pathway and the CAP/TC10 pathway. The adaptor protein Rap guanine exchange factor 1 (RAPGEF1) also known as C3G is a component of the CAP/TC10 pathway. Defects in the RAPGEF1 protein may contribute to insulin resistance and type 2 diabetes. Recently, the RAPGEF1 gene was suggested to be involved in the development of type 2 diabetes by FUSION study. To investigate this association in the Korean population, we sequenced the RAPGEF1 gene in 24 unrelated individuals and identified 39 sequence variants. Eleven single nucleotide polymorphisms (SNPs) were selected and genotyped in 1122 Korean patients with type 2 diabetes. There were 1138 non-diabetic controls. Using a logistic regression analysis, a significant association was found between SNP rs11243444 in the RAPGEF1 gene and type 2 diabetes [OR = 0.490 (95% CI 0.296-0.813), p = 0.006] in the recessive model, leading the protective effect of the GG genotype on the disease development. The present study examines genetic polymorphisms in the RAPGEF1 gene, and the positive association between one polymorphism and type 2 diabetes in the Korean population.

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RAPGEF1 gene variants associated with type 2 diabetes in the Korean population

Abstract

Bibliographical note

Keywords

UN SDGs

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