title: The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population.
abstract: OBJECTIVE
  The transcription factor upstream stimulatory factor 1 (USF1) regulates the expression of genes involved in glucose and lipid metabolism and has been associated with familial combined hyperlipidaemia. USF1 is located on chromosome 1q22-23, a region with evidence for linkage to type 2 diabetes and various traits of the metabolic syndrome in Chinese and other populations. The aim of this study was to investigate the linkage and association of USF1 with type 2 diabetes and the metabolic syndrome in Chinese individuals.
  
  
  METHODS
  We genotyped three haplotype-tagging single nucleotide polymorphisms (SNPs) (rs3737787, rs2516841 and rs2516839) at USF1 in three samples of the Hong Kong Chinese population, including members of 179 families from the Hong Kong Family Diabetes Study, 1,383 hospital cases with type 2 diabetes and/or the metabolic syndrome and 454 normal control subjects.
  
  
  RESULTS
  We found significant association of individual polymorphisms and haplotypes with type 2 diabetes and/or metabolic syndrome-related traits in the family samples using either family-based or unrelated normal control subjects. However, these variants could not explain much of the evidence for linkage in this region. Moreover, they were not associated with type 2 diabetes and/or the metabolic syndrome in the hospital cases.
  
  
  CONCLUSIONS
  The results are consistent with the hypothesis that variation at USF1 contributes to the risk of type 2 diabetes and the metabolic syndrome in families with strong evidence for linkage in the chromosome 1q region. However, they provide little support for USF1 as the susceptibility locus that generates the observed evidence for linkage at 1q21-25 for type 2 diabetes and/or the metabolic syndrome, and USF1 does not appear to have a major contribution to these phenotypes in the general Chinese population.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Chicago, Chicago, IL, USA. maggieng@uchicago.edu
authors.forename: M C Y
authors.initials: MC
authors.lastname: Ng
authors.forename: K
authors.initials: K
authors.lastname: Miyake
authors.forename: W Y
authors.initials: WY
authors.lastname: So
authors.forename: E W M
authors.initials: EW
authors.lastname: Poon
authors.forename: V K L
authors.initials: VK
authors.lastname: Lam
authors.forename: J K Y
authors.initials: JK
authors.lastname: Li
authors.forename: N J
authors.initials: NJ
authors.lastname: Cox
authors.forename: G I
authors.initials: GI
authors.lastname: Bell
authors.forename: J C N
authors.initials: JC
authors.lastname: Chan
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D003627:Data Interpretation, Statistical; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D024821:Metabolic Syndrome / Q000453:epidemiology / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D051720:Upstream Stimulatory Factors / Q000235:genetics*
chemical_list: C497181:USF1 protein, human; D051720:Upstream Stimulatory Factors