A Prevalent Amino Acid Polymorphism at Codon 98 in the Hepatocyte Nuclear Factor-1α Gene Is Associated With Reduced Serum C-Peptide and Insulin Responses to an Oral Glucose Challenge

Abstract excerpt

Mutations in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene cause the type 3 form of maturity-onset diabetes of the young (MODY3), which is characterized by a severe impairment of insulin secretion. In addition to disease-associated mutations, three common amino acid polymorphisms have been identified in the HNF-1alpha gene: Ile/Leu27, Ala/Val 98, and Ser/Asn487. We have addressed the question of whether...

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