title: Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population.
abstract: OBJECTIVE
  To investigate the relationship between MKKS gene variations, obesity-related traits and features of the metabolic syndrome (MS) in the Greek population.
  
  
  METHODS
  Genotype and haplotype analysis was carried out for six known MKKS gene polymorphisms (534C>T, 985+16T>G, 985+33C>G, 986-29A>T, 1161+58A>G and 1595G>T) in 220 obese subjects (body mass index > or =30 kg/m(2)) and 330 non-obese controls.
  
  
  RESULTS
  Genotype frequencies of the 985+16T>G, 986-29A>T and 1595G>T SNPs were significantly different between obese and non-obese individuals (P=0.0016, 0.0196 and 0.0069, respectively). Obese carriers of the risk alleles of the above three polymorphisms had a significantly increased prevalence of arterial hypertension. Furthermore, obese carriers of the G allele for the 985+16T>G polymorphism had an increased prevalence of type 2 diabetes mellitus and of MS component traits. A new polymorphism was detected, namely a C to T substitution at position 1129 (1129C>T or N377N). Frequency of the T allele for the 1129C>T polymorphism was significantly higher in control individuals than in obese subjects (P=0.0253). Haplotype TGTGT was more prevalent in obese than in controls (P=0.0002) and was associated with increased prevalence of the MS in obese subjects (P<0.0001).
  
  
  CONCLUSIONS
  Our results suggest that genetic variation in the MKKS gene may play a role in the development of obesity and the metabolic syndrome.
authors.affiliation: Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: K
authors.initials: K
authors.lastname: Rouskas
authors.forename: K
authors.initials: K
authors.lastname: Paletas
authors.forename: A
authors.initials: A
authors.lastname: Kalogeridis
authors.forename: M
authors.initials: M
authors.lastname: Sarigianni
authors.forename: E
authors.initials: E
authors.lastname: Ioannidou-Papagiannaki
authors.forename: A
authors.initials: A
authors.lastname: Tsapas
authors.forename: A
authors.initials: A
authors.lastname: Kouvatsi
mesh_terms: D000704:Analysis of Variance; D000886:Anthropometry; D015992:Body Mass Index; D005260:Female; D014644:Genetic Variation; D006115:Greece; D056385:Group II Chaperonins; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D024821:Metabolic Syndrome / Q000235:genetics*; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: C414726:MKKS protein, human; D018832:Molecular Chaperones; D056385:Group II Chaperonins