IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family

Ann N Y Acad Sci. 2004 Dec:1037:145-9. doi: 10.1196/annals.1337.024.

Abstract

Haplotype blocks characterized from 78 single-nucleotide polymorphisms (SNPs) in a 1- to 2-centiMorgan region in the human diabetes susceptibility gene IDDM17 were tested for association with type 1 diabetes mellitus (T1DM). Two haplotypes in two adjacent blocks in AMACO, a von Willebrand factor homologue, appear to be associated with the absence of T1DM; transmission tests support this hypothesis. Interestingly, in both haplotype blocks, a single SNP distinguishes the protective haplotype from the other haplotypes. One SNP is noncoding, whereas the other SNP causes a change from glutamic acid to glycine. Future work in identifying the protective allele includes association tests of block haplotypes in other populations.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Arabs / genetics*
  • Base Sequence
  • Biomarkers, Tumor
  • Calcium-Binding Proteins
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / prevention & control*
  • Extracellular Matrix Proteins / chemistry
  • Extracellular Matrix Proteins / genetics*
  • Family
  • Gene Frequency
  • Glycine / metabolism
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide*
  • Transcription Factors

Substances

  • Biomarkers, Tumor
  • Calcium-Binding Proteins
  • Extracellular Matrix Proteins
  • Transcription Factors
  • VWA2 protein, human
  • Glycine