title: Common genetic polymorphisms in the promoter of resistin gene are major determinants of plasma resistin concentrations in humans.
abstract: OBJECTIVE
  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
  Polymorphisms in the promoter of resistin gene are major determinants of plasma resistin concentrations in humans.
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, 28 Yongon-Dong Chongno-Gu, Seoul, 110-744, Korea.|Genome Research Center for Diabetes and Endocrine Disease, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea.
authors.forename: Y M
authors.initials: YM
authors.lastname: Cho
authors.affiliation: KOMED Institute for Life Science, Graduate School of Biotechnology, Korea University, Seoul, Korea.
authors.forename: B-S
authors.initials: BS
authors.lastname: Youn
authors.affiliation: Genome Research Center for Diabetes and Endocrine Disease, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea.
authors.forename: S S
authors.initials: SS
authors.lastname: Chung
authors.affiliation: Genome Research Center for Diabetes and Endocrine Disease, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea.
authors.forename: K W
authors.initials: KW
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, 28 Yongon-Dong Chongno-Gu, Seoul, 110-744, Korea.
authors.forename: H K
authors.initials: HK
authors.lastname: Lee
authors.affiliation: KOMED Institute for Life Science, Graduate School of Biotechnology, Korea University, Seoul, Korea.
authors.forename: K-Y
authors.initials: KY
authors.lastname: Yu
authors.affiliation: KOMED Institute for Life Science, Graduate School of Biotechnology, Korea University, Seoul, Korea.
authors.forename: H J
authors.initials: HJ
authors.lastname: Park
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Seoul, Korea.
authors.forename: H D
authors.initials: HD
authors.lastname: Shin
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, 28 Yongon-Dong Chongno-Gu, Seoul, 110-744, Korea. kspark@snu.ac.kr.|Genome Research Center for Diabetes and Endocrine Disease, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea. kspark@snu.ac.kr.
authors.forename: K S
authors.initials: KS
authors.lastname: Park
mesh_terms: D000368:Aged; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006729:Hormones, Ectopic / Q000097:blood* / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012016:Reference Values; D052243:Resistin
chemical_list: D006729:Hormones, Ectopic; C499624:RETN protein, human; D052243:Resistin