title: Molecular analysis of the adiponectin gene in severely obese patients from southern Italy.
abstract: BACKGROUND
  Severe obesity is a major worldwide public health concern affecting 0.5-5% of the adult population. Adiponectin (Acpr30), an adipokine secreted from adipocytes, shows pleiotropic beneficial effects on obesity and related disorders. In this study, sequence analysis of Acpr30 gene (ACDC) was performed in a highly selected population of severely obese young adult patients from Southern Italy to investigate the associations between polymorphisms in the ACDC gene and the development of severe obesity concomitantly with other features of the metabolic syndrome.
  
  
  METHODS
  The ACDC gene was analyzed by direct sequencing in the severely obese patients (n=220) and compared to healthy controls (n=116). The associations between the ACDC gene single-nucleotide polymorphisms (SNPs) and the levels of serum Acpr30 as well as the correlation with the presence of severe obesity jointly associated with other features of the metabolic syndrome were also investigated. Total serum Acpr30 concentrations were measured by the ELISA method.
  
  
  RESULTS
  ACDC gene molecular screening revealed the presence of previously described SNPs and a new nucleotide alteration, c.355T>G, leading to a protein variant, p.L119V. Measurement of serum concentration of Acpr30 demonstrated lower levels of Acpr30 in the obese population compared to controls (30.5+/-28.3 vs. 43.9+/-35.7 microg/ml, p<0.01); in particular, significantly lower Acpr30 concentrations were observed in obese patients bearing c.-11377C>G SNP CG+GG genotypes than in those with CC genotype (22.9+/-20.5 vs. 33.1+/-29.4 microg/ml, p<0.05).
  
  
  CONCLUSIONS
  Our results confirmed that low serum levels of Acpr30 are related to severe obesity and a difference in protein expression is associated with variants in ACDC gene promoter region.
authors.affiliation: Dipartimento di Scienze per la Salute, Università del Molise, Campobasso, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Daniele
authors.forename: R
authors.initials: R
authors.lastname: Cammarata
authors.forename: F
authors.initials: F
authors.lastname: Pasanisi
authors.forename: C
authors.initials: C
authors.lastname: Finelli
authors.forename: G
authors.initials: G
authors.lastname: Salvatori
authors.forename: G
authors.initials: G
authors.lastname: Calcagno
authors.forename: R
authors.initials: R
authors.lastname: Bracale
authors.forename: G
authors.initials: G
authors.lastname: Labruna
authors.forename: C
authors.initials: C
authors.lastname: Nardelli
authors.forename: P
authors.initials: P
authors.lastname: Buono
authors.forename: L
authors.initials: L
authors.lastname: Sacchetti
authors.forename: F
authors.initials: F
authors.lastname: Contaldo
authors.forename: G
authors.initials: G
authors.lastname: Oriani
mesh_terms: D052242:Adiponectin / Q000097:blood / Q000235:genetics; D000328:Adult; D015992:Body Mass Index; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D024821:Metabolic Syndrome / Q000097:blood / Q000235:genetics; D009154:Mutation; D009767:Obesity, Morbid / Q000097:blood* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic
chemical_list: C499918:ADIPOQ protein, human; D052242:Adiponectin