title: Analysis of MGEA5 on 10q24.1-q24.3 encoding the beta-O-linked N-acetylglucosaminidase as a candidate gene for type 2 diabetes mellitus in Pima Indians.
abstract: Several diseases including type 2 diabetes mellitus (T2DM) are associated with abnormal O-glycosylation of proteins. beta-O-linked N-acetylglucosaminidase (O-GlcNAcase) encoded by MGEA5 on 10g24.1-q24.3 removes N-acetylglucosamine (O-GlcNAc), and we investigated this locus in Pima Indians who have the world's highest prevalence of T2DM. We detected two variants but there was no association with parameters of insulin resistance or diabetes in approximately 1300 Pimas. We conclude that mutations in MGEA5 are unlikely to contribute to T2DM in this population.
mesh_terms: D000118:Acetylglucosaminidase / Q000235:genetics*; D000483:Alleles; D001130:Arizona; D001483:Base Sequence; D016022:Case-Control Studies; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology* / Q000209:etiology / Q000235:genetics*; D005787:Gene Frequency; D051548:Histone Acetyltransferases; D006801:Humans; D007198:Indians, North American / Q000235:genetics*; D008954:Models, Biological; D009097:Multienzyme Complexes; D020641:Polymorphism, Single Nucleotide; D001619:beta-N-Acetylhexosaminidases
chemical_list: D017931:DNA Primers; D009097:Multienzyme Complexes; D051548:Histone Acetyltransferases; C110628:hexosaminidase C; D000118:Acetylglucosaminidase; D001619:beta-N-Acetylhexosaminidases