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

Exp Clin Endocrinol Diabetes. 2001;109(6):320-5. doi: 10.1055/s-2001-17298.

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.

Design: 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.

MeSH terms

  • Adipocytes / physiology*
  • Adiponectin
  • Aged
  • Amino Acid Sequence / genetics
  • Amino Acid Substitution
  • Cholesterol / blood*
  • Cholesterol, LDL / blood
  • Cohort Studies
  • Diabetes Mellitus, Type 2 / blood*
  • Diabetes Mellitus, Type 2 / genetics*
  • European Continental Ancestry Group*
  • Female
  • Humans
  • Intercellular Signaling Peptides and Proteins*
  • Male
  • Middle Aged
  • Polymorphism, Genetic / genetics*
  • Proteins / genetics*

Substances

  • Adiponectin
  • Cholesterol, LDL
  • Intercellular Signaling Peptides and Proteins
  • Proteins
  • Cholesterol