The exon 1 Cys7Gly polymorphism within the betacellulin gene is associated with type 2 diabetes in African Americans

Kristi Silver, Magdalena Tolea, Jian Wang, Toni I. Pollin, Flora Yao, Braxton D. Mitchell

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


In vitro and in vivo studies suggest a role for betacellulin in islet neogenesis and regeneration. Since abnormalities in β-cell function play a role in the development of type 2 diabetes, a mutation in the betacellulin gene could potentially contribute to the development of type 2 diabetes. Using RT-PCR, we initially determined that betacellulin was expressed in 9- to 24-week-old human fetal pancreas. We then screened the betacellulin gene for mutations in subjects with type 2 diabetes and identified seven polymorphisms in segments encompassing the 5′ untranslated region (G-233C, A-226G), exon 1 (TGC19GGC, Cys7Gly), exon 2 (CTC130TTC, Leu44Phe), exon 4 (TTG370ATG, Len124Met), intron 2 (T-31C), and intron 4 (C-4T). These polymorphisms were genotyped in an expanded set of diabetic case and control subjects. Among African Americans (n = 334), the frequency of the Gly7 allele in exon 1 was 31.9% in diabetic case subjects compared with 45.1% in nondiabetic control subjects (P = 0.0004). Allele frequencies for the other polymorphisms did not differ significantly between African-American case and control subjects. Additionally, there were no significant differences in allele frequencies between case and control subjects among the Caucasian sample (n = 426) for any of the seven polymorphisms, including the Gly7 variant. Further studies will be needed to understand the different roles that betacellulin polymorphisms play in susceptibility to type 2 diabetes in Caucasians and African Americans.

Original languageEnglish (US)
Pages (from-to)1179-1184
Number of pages6
Issue number4
StatePublished - Apr 2005
Externally publishedYes

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism


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