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

被引：5

作者：

Eller, E

Vardi, P

Daly, MJ

Babu, S

Roberts, C

Yang, F

Eisenbarth, GS

Fain, PR

机构：

[1] Univ Colorado, Hlth Sci Ctr, Barbara Davis Ctr Childhood Diabet, Denver, CO 80262 USA

[2] Tel Aviv Univ, Felsenstein Med Res Ctr, IL-49100 Petah Tiqwa, Israel

[3] MIT, Whitehead Inst, Ctr Genome Res, Cambridge, MA 02142 USA

来源：

IMMUNOLOGY OF DIABETES III | 2004年 / 1037卷

关键词：

type; 1; diabetes; IDDM17; AMACO; linkage disequilibrium; haplotype block;

D O I：

10.1196/annals.1337.024

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：145 / 149

页数：5

共 4 条

[1] Single nucleotide polymorphism study of IDDM 17 in a Bedouin Arab family [J].