title: C1q but not mannose-binding lectin (Mbl-2) gene polymorphisms are associated with type 2 diabetes in the genetically homogeneous population of the island of Crete in Greece.
abstract: OBJECTIVE
  To investigate the role of mannose-binding lectin 2 (MBL2) and C1q gene polymorphisms on the susceptibility to type 2 diabetes (T2D), that may contribute to increased risk of infections in the genetically homogeneous Greek population of the island of Crete.
  
  
  METHODS
  Ninety five patients with T2D and 333 healthy controls, all local Cretans were genotyped for the MBL-2 rs11003125 (C>G) and C1q rs292001 (G>A) single-nucleotide polymorphisms (SNPs) by the restriction fragment length polymorphism approach.
  
  
  RESULTS
  The A/A genotype and the minor allele A of C1q SNP (P=0.0001 in both cases) were observed more frequently in T2D than in healthy controls. In contrast, the minor allele G of the rs11003125 MBL2 gene did not show any statistically significant difference between T2D patients and controls. The present study represents the first attempt to implicate the role of MBL2 and C1q gene polymorphisms in the susceptibility to T2D.
  
  
  CONCLUSIONS
  The study has shown that the rs292001 C1q but not the rs11003125 MBL2 SNP are associated with increased risk for T2D susceptibility in the Cretan population.
authors.affiliation: Laboratory of Molecular Medicine and Human Genetics, Department of Internal Medicine, Medical School, University of Crete, Heraklion, Crete, Greece.
authors.forename: George N
authors.initials: GN
authors.lastname: Goulielmos
authors.forename: George
authors.initials: G
authors.lastname: Samonis
authors.forename: Marina
authors.initials: M
authors.lastname: Apergi
authors.forename: Maria
authors.initials: M
authors.lastname: Christofaki
authors.forename: Antonis
authors.initials: A
authors.lastname: Valachis
authors.forename: Maria I
authors.initials: MI
authors.lastname: Zervou
authors.forename: Diamantis P
authors.initials: DP
authors.lastname: Kofteridis
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D015922:Complement C1q / Q000235:genetics* / Q000276:immunology; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006115:Greece; D006801:Humans; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D044382:Population Groups
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin; D015922:Complement C1q