Role of a proline insertion in the insulin promoter factor 1 (IPF1) gene in African Americans with type 2 diabetes

Steven C. Elbein, Xiaoqin Wang, Mohammad A. Karim, Barry I. Freedman, Donald W. Bowden, Alan R. Shuldiner, Frederick L. Brancati, Wen Hong Linda Kao

Research output: Contribution to journalArticle

Abstract

African Americans have twice the prevalence of type 2 diabetes as Caucasians and much greater genetic diversity. We identified an inframe insertion of a proline in the insulin promoter factor 1 (IPF1) gene (InsCCG243), which was relatively common (minor allele frequency ∼0.08) in African Americans and showed a trend to association with type 2 diabetes in preliminary studies. An earlier French study identified InsCCG243 as a cause of autosomal dominant diabetes. To determine the role of this variant in African Americans, we examined an additional population from North Carolina (n = 368) and a subset of African-American participants from the Atherosclerosis Risk in Communities (ARIC) study (n = 1,741). We also looked for segregation in 66 African-American families and for a role in insulin secretion in 112 nondiabetic subjects. InsCCG243 did not increase the risk of type 2 diabetes (P = 0.16 in North Carolina; P = 0.97 in the ARIC study) and did not segregate with type 2 diabetes in families. However, we found suggestive evidence for reduced insulin response to glucose (P = 0.05). Neither indirect measures of β-cell mass nor β-cell compensation were altered (P > 0.1). InsCCG243 does not act in a dominant, highly penetrant fashion in African Americans and is not a significant risk factor for type 2 diabetes in this population.

Original languageEnglish (US)
Pages (from-to)2909-2914
Number of pages6
JournalDiabetes
Volume55
Issue number10
DOIs
StatePublished - Oct 2006

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Proline
African Americans
Type 2 Diabetes Mellitus
Genes
Atherosclerosis
Insulin
Gene Frequency
Population
pancreatic and duodenal homeobox 1 protein
Glucose

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Elbein, S. C., Wang, X., Karim, M. A., Freedman, B. I., Bowden, D. W., Shuldiner, A. R., ... Kao, W. H. L. (2006). Role of a proline insertion in the insulin promoter factor 1 (IPF1) gene in African Americans with type 2 diabetes. Diabetes, 55(10), 2909-2914. https://doi.org/10.2337/db06-0434

Role of a proline insertion in the insulin promoter factor 1 (IPF1) gene in African Americans with type 2 diabetes. / Elbein, Steven C.; Wang, Xiaoqin; Karim, Mohammad A.; Freedman, Barry I.; Bowden, Donald W.; Shuldiner, Alan R.; Brancati, Frederick L.; Kao, Wen Hong Linda.

In: Diabetes, Vol. 55, No. 10, 10.2006, p. 2909-2914.

Research output: Contribution to journalArticle

Elbein, SC, Wang, X, Karim, MA, Freedman, BI, Bowden, DW, Shuldiner, AR, Brancati, FL & Kao, WHL 2006, 'Role of a proline insertion in the insulin promoter factor 1 (IPF1) gene in African Americans with type 2 diabetes', Diabetes, vol. 55, no. 10, pp. 2909-2914. https://doi.org/10.2337/db06-0434
Elbein SC, Wang X, Karim MA, Freedman BI, Bowden DW, Shuldiner AR et al. Role of a proline insertion in the insulin promoter factor 1 (IPF1) gene in African Americans with type 2 diabetes. Diabetes. 2006 Oct;55(10):2909-2914. https://doi.org/10.2337/db06-0434
Elbein, Steven C. ; Wang, Xiaoqin ; Karim, Mohammad A. ; Freedman, Barry I. ; Bowden, Donald W. ; Shuldiner, Alan R. ; Brancati, Frederick L. ; Kao, Wen Hong Linda. / Role of a proline insertion in the insulin promoter factor 1 (IPF1) gene in African Americans with type 2 diabetes. In: Diabetes. 2006 ; Vol. 55, No. 10. pp. 2909-2914.
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