Volume 47, Number 3, 559-565, DOI: 10.1007/s00125-003-1319-x

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European Association for the Study of Diabetes

Common genetic polymorphisms in the promoter of resistin gene are major determinants of plasma resistin concentrations in humans

Y. M. Cho, B.-S. Youn, S. S. Chung, K. W. Kim, H. K. Lee, K.-Y. Yu, H. J. Park, H. D. Shin and K. S. Park

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Abstract

Aims/hypothesis  

Resistin is thought to be an important link between obesity and insulin resistance. It has been suggested that genetic polymorphism in the promoter of resistin gene is a determinant of resistin mRNA expression and possibly associated with obesity and insulin resistance. In this study, we investigated the association between the genotype of resistin promoter and its plasma concentrations.

Methods  

We examined g.-537A>C and g.-420C>G polymorphisms in the resistin promoter and measured plasma resistin concentrations in Korean subjects with or without Type 2 diabetes. We also did haplotype-based promoter activity assays and the gel electrophoretic mobility shift assay.

Results  

The –420G and the –537A alleles, which were in linkage disequilibrium, were associated with higher plasma resistin concentrations. Individuals with haplotype A-G (–537A and –420G) had significantly higher plasma resistin concentrations than the others. Haplotype A-G had modestly increased promoter activity compared to the other haplotypes. Electrophoretic mobility shift assay showed that the –420G allele is specific for binding of nuclear proteins from adipocytes and monocytes. However, none of the two polymorphisms were associated with Type 2 diabetes or obesity in our study subjects.

Conclusions/interpretation  

Polymorphisms in the promoter of resistin gene are major determinants of plasma resistin concentrations in humans.

Keywords  Resistin - plasma concentrations - promoter - genotype - diabetes

An erratum to this article can be found at http://dx.doi.org/10.1007/s00125-004-1419-2
Y.M. Cho and B.-S. Youn contributed equally to this work

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