title: Gly15Gly polymorphism within the human adipocyte-specific apM-1gene but not Tyr111His polymorphism is associated with higher levels of cholesterol and LDL-cholesterol in caucasian patients with type 2 diabetes.
abstract: The recently described mutations within the human adipocyte-specific apM-1 gene might play a role in the pathogenesis of obesity, type 2 diabetes and related metabolic disorders.
  
  
  METHODS
  Frequency of apM-1 gene polymorphisms and their association with metabolic parameters was evaluated in a population-based sample of 556 type 2 (316 males / 240 females) diabetic patients. PCR-based RFLP analysis was performed in blood samples. The T --> G transition at nucleotide +45 within exon-2 [Gly15Gly] was detected with an allelic frequency of 0.91 for the wildtype allele and 0.09 for the mutated allele. The missense point mutation (TAC --> CAC) at nucleotide +331 within exon 3 [Tyr111His] was detected with an allelic frequency of 0.97 and 0.03, respectively. These frequencies did not differ from a non-diabetic cohort examined earlier. Concerning the Gly15Gly polymorphism, the TT-genotype was found in 457 (82.2%) and the TG-genotype in 99 (17.8%), concerning the Tyr111His polymorphism, TT-genotype was found in 525 (94.4) and TC-genotype in 31 (5.6%) of type 2 diabetic patients. In TG-genotype as compared to TT-genotype significantly more patients had LDL-serum levels in high LDL-classes (<150 mg/dl: 24.4% (TG) vs. 41.4% (TT), 150mg/dl to 190mg/dl: 40.0% (TG) vs. 33.9% (TT), >190 mg/l: 35.6% (TG) vs. 25.0% (TT); p = 0.010). No differences in serum levels of lipids were found in genotype-subgroups of the Tyr111His polymorphism. Thus, Gly15Gly polymorphism of apM-1 gene might play a role in dyslipidaemia in type 2 diabetic patients.
authors.affiliation: Department of Internal Medicine I, University of Regensburg, D-93042 Regensburg, Germany. Bettina.Zietz@klinik.uni-regensburg.de
authors.forename: B
authors.initials: B
authors.lastname: Zietz
authors.forename: N
authors.initials: N
authors.lastname: Barth
authors.forename: J
authors.initials: J
authors.lastname: Schölmerich
authors.forename: G
authors.initials: G
authors.lastname: Schmitz
authors.forename: A
authors.initials: A
authors.lastname: Schäffler
mesh_terms: D017667:Adipocytes / Q000502:physiology*; D052242:Adiponectin; D000368:Aged; D000595:Amino Acid Sequence / Q000235:genetics; D019943:Amino Acid Substitution; D002784:Cholesterol / Q000097:blood*; D008078:Cholesterol, LDL / Q000097:blood; D015331:Cohort Studies; D003924:Diabetes Mellitus, Type 2 / Q000097:blood* / Q000235:genetics*; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D044465:White People
chemical_list: D052242:Adiponectin; D008078:Cholesterol, LDL; D036341:Intercellular Signaling Peptides and Proteins; D011506:Proteins; D002784:Cholesterol