Analysis of the Type 2 Diabetes-Associated Single Nucleotide Polymorphisms in the Genes IRS1, KCNJ11, and PPARG2 in Type 1 Diabetes

Christina Eftychi; Joanna M.M. Howson; Bryan J. Barratt; Adrian Vella; Felicity Payne; Deborah J. Smyth; Rebecca C.J. Twells; Neil M. Walker; Helen E. Rance; Eva Tuomilehto-Wolf; Jaakko Tuomilehto; Dag E. Undlien; Kjersti S. Rønningen; Cristian Guja; Constantin Ionescu-Tîrgovişte; David A. Savage; John A. Todd

doi:10.2337/diabetes.53.3.870

Analysis of the Type 2 Diabetes-Associated Single Nucleotide Polymorphisms in the Genes IRS1, KCNJ11, and PPARG2 in Type 1 Diabetes

Christina Eftychi, Joanna M.M. Howson, Bryan J. Barratt, Adrian Vella, Felicity Payne, Deborah J. Smyth, Rebecca C.J. Twells, Neil M. Walker, Helen E. Rance, Eva Tuomilehto-Wolf, Jaakko Tuomilehto, Dag E. Undlien, Kjersti S. Rønningen, Cristian Guja, Constantin Ionescu-Tîrgovişte, David A. Savage, John A. Todd

Endocrinology, Diabetes, Metabolism, and Nutrition

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37 Scopus citations

Abstract

It has been proposed that type 1 and 2 diabetes might share common pathophysiological pathways and, to some extent, genetic background. However, to date there has been no convincing data to establish a molecular genetic link between them. We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large type 1 diabetic family collection of European descent: Gly972Arg in the insulin receptor substrate 1 (IRS1) gene, Glu23Lys in the potassium inwardly-rectifying channel gene (KCNJ11), and Pro12Ala in the peroxisome proliferative-activated receptor γ2 gene (PPARG2). We were unable to confirm a recently published association of the IRS1 Gly972Arg variant with type 1 diabetes. Moreover, KCNJ11 Glu23Lys showed no association with type 1 diabetes (P > 0.05). However, the PPARG2 Pro12Ala variant showed evidence of association (RR 1.15, 95% CI 1.04-1.28, P = 0.008). Additional studies need to be conducted to confirm this result.

Original language	English (US)
Pages (from-to)	870-873
Number of pages	4
Journal	Diabetes
Volume	53
Issue number	3
DOIs	https://doi.org/10.2337/diabetes.53.3.870
State	Published - Mar 2004

ASJC Scopus subject areas

Internal Medicine
Endocrinology, Diabetes and Metabolism

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Eftychi, C., Howson, J. M. M., Barratt, B. J., Vella, A., Payne, F., Smyth, D. J., Twells, R. C. J., Walker, N. M., Rance, H. E., Tuomilehto-Wolf, E., Tuomilehto, J., Undlien, D. E., Rønningen, K. S., Guja, C., Ionescu-Tîrgovişte, C., Savage, D. A., & Todd, J. A. (2004). Analysis of the Type 2 Diabetes-Associated Single Nucleotide Polymorphisms in the Genes IRS1, KCNJ11, and PPARG2 in Type 1 Diabetes. Diabetes, 53(3), 870-873. https://doi.org/10.2337/diabetes.53.3.870

Eftychi, C, Howson, JMM, Barratt, BJ, Vella, A, Payne, F, Smyth, DJ, Twells, RCJ, Walker, NM, Rance, HE, Tuomilehto-Wolf, E, Tuomilehto, J, Undlien, DE, Rønningen, KS, Guja, C, Ionescu-Tîrgovişte, C, Savage, DA & Todd, JA 2004, 'Analysis of the Type 2 Diabetes-Associated Single Nucleotide Polymorphisms in the Genes IRS1, KCNJ11, and PPARG2 in Type 1 Diabetes', Diabetes, vol. 53, no. 3, pp. 870-873. https://doi.org/10.2337/diabetes.53.3.870

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abstract = "It has been proposed that type 1 and 2 diabetes might share common pathophysiological pathways and, to some extent, genetic background. However, to date there has been no convincing data to establish a molecular genetic link between them. We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large type 1 diabetic family collection of European descent: Gly972Arg in the insulin receptor substrate 1 (IRS1) gene, Glu23Lys in the potassium inwardly-rectifying channel gene (KCNJ11), and Pro12Ala in the peroxisome proliferative-activated receptor γ2 gene (PPARG2). We were unable to confirm a recently published association of the IRS1 Gly972Arg variant with type 1 diabetes. Moreover, KCNJ11 Glu23Lys showed no association with type 1 diabetes (P > 0.05). However, the PPARG2 Pro12Ala variant showed evidence of association (RR 1.15, 95% CI 1.04-1.28, P = 0.008). Additional studies need to be conducted to confirm this result.",

author = "Christina Eftychi and Howson, {Joanna M.M.} and Barratt, {Bryan J.} and Adrian Vella and Felicity Payne and Smyth, {Deborah J.} and Twells, {Rebecca C.J.} and Walker, {Neil M.} and Rance, {Helen E.} and Eva Tuomilehto-Wolf and Jaakko Tuomilehto and Undlien, {Dag E.} and R{\o}nningen, {Kjersti S.} and Cristian Guja and Constantin Ionescu-T{\^i}rgovi{\c s}te and Savage, {David A.} and Todd, {John A.}",

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AU - Tuomilehto, Jaakko

AU - Undlien, Dag E.

AU - Rønningen, Kjersti S.

AU - Guja, Cristian

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AU - Savage, David A.

AU - Todd, John A.

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N2 - It has been proposed that type 1 and 2 diabetes might share common pathophysiological pathways and, to some extent, genetic background. However, to date there has been no convincing data to establish a molecular genetic link between them. We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large type 1 diabetic family collection of European descent: Gly972Arg in the insulin receptor substrate 1 (IRS1) gene, Glu23Lys in the potassium inwardly-rectifying channel gene (KCNJ11), and Pro12Ala in the peroxisome proliferative-activated receptor γ2 gene (PPARG2). We were unable to confirm a recently published association of the IRS1 Gly972Arg variant with type 1 diabetes. Moreover, KCNJ11 Glu23Lys showed no association with type 1 diabetes (P > 0.05). However, the PPARG2 Pro12Ala variant showed evidence of association (RR 1.15, 95% CI 1.04-1.28, P = 0.008). Additional studies need to be conducted to confirm this result.

AB - It has been proposed that type 1 and 2 diabetes might share common pathophysiological pathways and, to some extent, genetic background. However, to date there has been no convincing data to establish a molecular genetic link between them. We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large type 1 diabetic family collection of European descent: Gly972Arg in the insulin receptor substrate 1 (IRS1) gene, Glu23Lys in the potassium inwardly-rectifying channel gene (KCNJ11), and Pro12Ala in the peroxisome proliferative-activated receptor γ2 gene (PPARG2). We were unable to confirm a recently published association of the IRS1 Gly972Arg variant with type 1 diabetes. Moreover, KCNJ11 Glu23Lys showed no association with type 1 diabetes (P > 0.05). However, the PPARG2 Pro12Ala variant showed evidence of association (RR 1.15, 95% CI 1.04-1.28, P = 0.008). Additional studies need to be conducted to confirm this result.

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Analysis of the Type 2 Diabetes-Associated Single Nucleotide Polymorphisms in the Genes IRS1, KCNJ11, and PPARG2 in Type 1 Diabetes

Abstract

ASJC Scopus subject areas

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