B Zietz1, N Barth, J Schölmerich, G Schmitz, A Schäffler. 1. Department of Internal Medicine I, University of Regensburg, D-93042 Regensburg, Germany. Bettina.Zietz@klinik.uni-regensburg.de
Abstract
UNLABELLED: 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.
UNLABELLED: 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) diabeticpatients. 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 diabeticpatients. 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 diabeticpatients.