title: Variant screening of PRKAB2, a type 2 diabetes mellitus susceptibility candidate gene on 1q in Pima Indians.
abstract: The AMP-activated protein kinase (AMPK) is a key enzyme involved in the regulation of lipid and glucose metabolism. There are multiple isoforms of the three subunits of this enzymatic complex, each encoded by a different gene in humans. We have investigated the PRKAB2 gene encoding the beta2 subunit, which is located on chromosome 1q within a region linked with type 2 diabetes mellitus (T2DM) in the Pima Indians and four different Caucasian populations. The gene consists of eight exons spanning about 15 kb, and we detected nine variants in the introns and 3' UTR, including eight informative single nucleotide polymorphisms (SNPs) and one rare 4 bp insertion/deletion. In an analysis of representative markers in selected Pima Indians including 149 diabetic cases (onset age < 25 years) and 150 controls (at least 45 years old, with normal glucose tolerance), we found no evidence for association of this locus with T2DM. We conclude that variants in PRKAB2 are unlikely to contribute to the disease susceptibility in Pima Indians.
authors.affiliation: Clinical Diabetes and Nutrition Section, Phoenix Epidemiology and Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 N 16th Street, Phoenix, AZ 85016, USA. mprochazka@phx.niddk.nih.gov
authors.forename: M
authors.initials: M
authors.lastname: Prochazka
authors.forename: V S
authors.initials: VS
authors.lastname: Farook
authors.forename: V
authors.initials: V
authors.lastname: Ossowski
authors.forename: J K
authors.initials: JK
authors.lastname: Wolford
authors.forename: C
authors.initials: C
authors.lastname: Bogardus
mesh_terms: D055372:AMP-Activated Protein Kinases; D000328:Adult; D001130:Arizona; D016022:Case-Control Studies; D002878:Chromosomes, Human, Pair 1; D004252:DNA Mutational Analysis; D017931:DNA Primers; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D014644:Genetic Variation; D006801:Humans; D007198:Indians, North American / Q000235:genetics*; D008875:Middle Aged; D009097:Multienzyme Complexes; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D021122:Protein Subunits / Q000235:genetics
chemical_list: D017931:DNA Primers; D009097:Multienzyme Complexes; D021122:Protein Subunits; D011494:Protein Kinases; C526183:PRKAB2 protein, human; D017346:Protein Serine-Threonine Kinases; D055372:AMP-Activated Protein Kinases