作者
Donna M Lehman, Dong-Jing Fu, Angela B Freeman, Kelly J Hunt, Robin J Leach, Teresa Johnson-Pais, Jeanette Hamlington, Thomas D Dyer, Rector Arya, Hanna Abboud, Harald HH Goring, Ravindranath Duggirala, John Blangero, Robert J Konrad, Michael P Stern
发表日期
2005/4/1
期刊
Diabetes
卷号
54
期号
4
页码范围
1214-1221
出版商
American Diabetes Association
简介
Excess O-glycosylation of proteins by O-linked β-N-acetylglucosamine (O-GlcNAc) may be involved in the pathogenesis of type 2 diabetes. The enzyme O-GlcNAc–selective N-acetyl-β-d glucosaminidase (O-GlcNAcase) encoded by MGEA5 on 10q24.1-q24.3 reverses this modification by catalyzing the removal of O-GlcNAc. We have previously reported the linkage of type 2 diabetes and age at diabetes onset to an overlapping region on chromosome 10q in the San Antonio Family Diabetes Study (SAFADS). In this study, we investigated menangioma-expressed antigen-5 (MGEA5) as a positional candidate gene. Twenty-four single nucleotide polymorphisms (SNPs), identified by sequencing 44 SAFADS subjects, were genotyped in 436 individuals from 27 families whose data were used in the original linkage report. Association tests indicated significant association of a novel SNP with the traits diabetes (P = 0 …
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