title: Polymorphisms in the interleukin-6 receptor gene are associated with body mass index and with characteristics of the metabolic syndrome.
abstract: OBJECTIVE
  Low-grade inflammation has been related to obesity, insulin resistance and the metabolic syndrome. The Asp358Ala variant and the CA-repeat polymorphism in the interleukin-6 receptor (IL-6R) gene have been reported to be associated with obesity in Pima Indians and Spanish women, respectively. The aim of this study was to investigate the association between these polymorphisms and obesity in a Mediterranean-Caucasian population, and to determine whether this polymorphism was related to the metabolic syndrome as defined by the National Cholesterol Education Program - Adult Treatment Panel III (NCEP/ATP-III) criteria.
  
  
  METHODS
  Cross-sectional.
  
  
  METHODS
  Three hundred and ninety subjects from the general population.
  
  
  METHODS
  The Asp358Ala and CA-repeat polymorphisms were analysed by polymerase chain reaction (PCR) amplification, followed by restriction fragment length polymorphism or capillary electrophoresis, respectively.
  
  
  RESULTS
  Both polymorphisms were in strong linkage disequilibrium, Asp358 alleles being associated with 149 CA-repeat alleles (chi2 = 76.275, P < 0.0001). Therefore, only the association of the Asp358Ala variant with obesity and the metabolic syndrome was assessed in the whole series of subjects. Subjects homozygous for Asp358 alleles had statistically higher body mass index (BMI) compared with Ala358 carriers (27.7 +/- 5.41 vs. 26.6 +/- 4.96 kg/m2; P < 0.05). Moreover, the prevalence of the metabolic syndrome was significantly higher in carriers of the Asp358 allele compared with Ala358 homozygotes (12.7%vs. 0.0%; P = 0.01). This relationship remained significant after adjusting for age, insulin resistance, sex and BMI.
  
  
  CONCLUSIONS
  The Asp358Ala and CA-repeat polymorphisms in the IL-6R gene are associated with obesity and characteristics of the metabolic syndrome in our population of Mediterranean subjects.
authors.affiliation: Department of Endocrinology, University Hospital of Girona Dr Josep Trueta, Girona, Spain.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Esteve
authors.forename: Gemma
authors.initials: G
authors.lastname: Villuendas
authors.forename: Judith
authors.initials: J
authors.lastname: Mallolas
authors.forename: Joan
authors.initials: J
authors.lastname: Vendrell
authors.forename: Abel
authors.initials: A
authors.lastname: López-Bermejo
authors.forename: Matilde
authors.initials: M
authors.lastname: Rodríguez
authors.forename: Mónica
authors.initials: M
authors.lastname: Recasens
authors.forename: Wifredo
authors.initials: W
authors.lastname: Ricart
authors.forename: José L
authors.initials: JL
authors.lastname: San Millán
authors.forename: Héctor
authors.initials: H
authors.lastname: Escobar-Morreale
authors.forename: Cristóbal
authors.initials: C
authors.lastname: Richart
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Fernández-Real
mesh_terms: D000328:Adult; D015992:Body Mass Index; D019075:Electrophoresis, Capillary; D005260:Female; D020022:Genetic Predisposition to Disease; D006706:Homeostasis; D006720:Homozygote; D006801:Humans; D007333:Insulin Resistance; D015810:Linkage Disequilibrium; D008297:Male; D024821:Metabolic Syndrome / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D009765:Obesity / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D019947:Receptors, Interleukin-6 / Q000235:genetics*; D012044:Regression Analysis; D013030:Spain; D044465:White People
chemical_list: D019947:Receptors, Interleukin-6