title: The Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-γ coactivator-1α (PGC-1α) is associated with type 2 diabetes in Tunisian population.
abstract: OBJECTIVE
  Peroxisome proliferator-activated receptor-γ co-activator-1α (PGC-1α) is a transcriptional co-activator involved in adaptive thermogenesis, skeletal muscle metabolism, fatty acid oxidation, and gluconeogenesis. Several studies have suggested that the common PGC-1α polymorphism Gly482Ser (rs8192678) may be associated with risk of type 2 diabetes (T2D), with conflicting results. The aim of this study was to analyze whether the Gly482Ser variant is a risk factor for development of T2D in Tunisian population.
  
  
  METHODS
  In a case-control study 487 unrelated patients with type 2 diabetes and 402 apparently healthy controls were recruited from January 2008 to August 2010. The Gly482Ser polymorphism was determined by PCR-RFLP analysis.
  
  
  RESULTS
  A significant difference in genotypes distribution was observed between patients (Gly/Gly: 34.1%; Gly/Ser: 47.1%; Ser/Ser: 18.5%) and controls (Gly/Gly: 43.8%; Gly/Ser: 42.3%; Ser/Ser: 13.9%) (χ(2)=9.44, p=0.009). The T2D patient group showed a significant higher frequency of the Ser allele compared to the controls (43% vs. 34%; OR: 1.35, 95% [CI]: 1.11-1.65, p=0.002). The association between the Gly482Ser polymorphism and T2D remained significant after adjustment for other well-established cardiovascular risk factors.
  
  
  CONCLUSIONS
  In the current study, a significant and independent association between the Gly482Ser polymorphism (rs8192678) of the PGC-1α gene and T2D in the Tunisian population was found.
authors.affiliation: LR99ES11 Research Laboratory, Department of Biochemistry, Rabta Hospital, University of Tunis El Manar, Tunis, Tunisia.
authors.forename: Zeineb
authors.initials: Z
authors.lastname: Jemaa
authors.affiliation: LR99ES11 Research Laboratory, Department of Biochemistry, Rabta Hospital, University of Tunis El Manar, Tunis, Tunisia.
authors.forename: Amani
authors.initials: A
authors.lastname: Kallel
authors.affiliation: LR99ES11 Research Laboratory, Department of Biochemistry, Rabta Hospital, University of Tunis El Manar, Tunis, Tunisia.
authors.forename: Chaker
authors.initials: C
authors.lastname: Sleimi
authors.affiliation: LR99ES11 Research Laboratory, Department of Biochemistry, Rabta Hospital, University of Tunis El Manar, Tunis, Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Mahjoubi
authors.affiliation: LR99ES11 Research Laboratory, Department of Biochemistry, Rabta Hospital, University of Tunis El Manar, Tunis, Tunisia.
authors.forename: Moncef
authors.initials: M
authors.lastname: Feki
authors.affiliation: Department of Endocrinology, Rabta Hospital, Tunis, Tunisia.
authors.forename: Bochra
authors.initials: B
authors.lastname: Ftouhi
authors.affiliation: Department of Endocrinology, Rabta Hospital, Tunis, Tunisia.
authors.forename: Hedia
authors.initials: H
authors.lastname: Slimane
authors.affiliation: LR99ES11 Research Laboratory, Department of Biochemistry, Rabta Hospital, University of Tunis El Manar, Tunis, Tunisia. Electronic address: jemaa_riadh@yahoo.fr.
authors.forename: Riadh
authors.initials: R
authors.lastname: Jemaa
authors.affiliation: LR99ES11 Research Laboratory, Department of Biochemistry, Rabta Hospital, University of Tunis El Manar, Tunis, Tunisia.
authors.forename: Naziha
authors.initials: N
authors.lastname: Kaabachi
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000378:metabolism*; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*; D014416:Tunisia / Q000453:epidemiology
chemical_list: D015415:Biomarkers; C486497:PPARGC1A protein, human; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D014157:Transcription Factors
keywords: Diabetes; PCR-RFLP; PPARGC1A; Polymorphism