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IDDM17: Polymorphisms in the AMACO Gene Are Associated with Dominant Protection against Type 1A Diabetes in a Bedouin Arab Family
Author(s) -
ELLER ELISE,
VARDI PNINA,
DALY MARK J.,
BABU SUNANDA,
ROBERTS CHRISTINE,
YANG FAN,
EISENBARTH GEORGE S.,
FAIN PAMELA R.
Publication year - 2004
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1337.024
Subject(s) - haplotype , single nucleotide polymorphism , genetics , snp , allele , biology , genotype , type 1 diabetes , gene , haplotype estimation , diabetes mellitus , endocrinology
A bstract : 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.