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 journalArticlepeer-review

3 Scopus citations


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
Issue number10
StatePublished - Oct 2006
Externally publishedYes

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism


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