title: IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family.
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.
authors.affiliation: Barbara Davis Center for Childhood Diabetes, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, Box B-140, Denver, CO 80262, USA. elise.eller@uchsc.edu
authors.forename: Elise
authors.initials: E
authors.lastname: Eller
authors.forename: Pnina
authors.initials: P
authors.lastname: Vardi
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Daly
authors.forename: Sunanda
authors.initials: S
authors.lastname: Babu
authors.forename: Christine
authors.initials: C
authors.lastname: Roberts
authors.forename: Fan
authors.initials: F
authors.lastname: Yang
authors.forename: George S
authors.initials: GS
authors.lastname: Eisenbarth
authors.forename: Pamela R
authors.initials: PR
authors.lastname: Fain
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D018912:Arabs / Q000235:genetics*; D001483:Base Sequence; D014408:Biomarkers, Tumor; D002135:Calcium-Binding Proteins; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000517:prevention & control*; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics*; D005190:Family; D005787:Gene Frequency; D005998:Glycine / Q000378:metabolism; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors
chemical_list: D014408:Biomarkers, Tumor; D002135:Calcium-Binding Proteins; D016326:Extracellular Matrix Proteins; D014157:Transcription Factors; C496188:VWA2 protein, human; D005998:Glycine