title: C3F gene mutation is involved in the susceptibility to pre-eclampsia.
abstract: OBJECTIVE
  The aim of this study was to analyze the functional polymorphism of exon 3 of the gene of complement component C3 (rs 2230199) to identify the potential involvement of the mutated gene C3F in the genesis of pre-eclampsia.
  
  
  METHODS
  It is a comparative case-control study conducted in the university center of maternity and neonatology of Monastir with collaboration of high institute of biotechnology (Tunisia) on a period of 2 years. Two hundred and fifty patients and 96 newborns divided into pre-eclampsia group (150 parturients with pre-eclampsia and 48 newborns) and control group (100 parturients with normal pregnancy and their 48 infants) are taken. Each patient and control were sampled for the phenotypic study and the molecular analysis. The ARMS-PCR (amplification refractory mutation system) was the standard procedure in our study. A simple observation let to distinguish three cases of genotypes: SS, FF and SF.
  
  
  RESULTS
  In the control group, 56% of parturients had the genotype SS, 38%, the genotype SF and 6%, FF genotype. In the pre-eclamptic population, SS, SF, and FF genotypes were determined, respectively, 40, 45.30 and 14.60% of the patients. There is a sharp increase in the frequency of the FF genotype in pre-eclamptic patients compared to controls (14.60 vs. 6%). The difference was statistically significant (p = 0.01). The frequencies of C3S and alleles C3F determined in controls (respectively, 74 and 26%) were different from those identified in pre-eclamptic patients (respectively, 62.60 and 37.30%). This difference was statistically significant (p = 0.005). The C3S and C3F allele frequencies determined in control newborns (respectively, 83.33 and 16.66%) were slightly different from those identified in newborn issued from pre-eclamptic patients (respectively, 80.2 and 19.79%), but the difference was not statistically significant (p = 0.67).
  
  
  CONCLUSIONS
  The gene polymorphism of complement component C3 was significantly associated with the onset of pre-eclampsia. These results should be confirmed by other studies looking at larger scale to consider this gene as a new biomarker with predictive potential therapeutic consequences.
authors.affiliation: Department of Gynecology and Obstetrics, University Hospital Fattouma Bourguiba, Monastir, Tunisia.
authors.forename: Mohamed Salah
authors.initials: MS
authors.lastname: Rhim
authors.forename: Sawsen
authors.initials: S
authors.lastname: Meddeb
authors.forename: Ons
authors.initials: O
authors.lastname: Kaabia
authors.forename: Mohamed
authors.initials: M
authors.lastname: Jalloul
authors.forename: Mohamed
authors.initials: M
authors.lastname: Sakouhi
authors.forename: Besma Bel Hadj
authors.initials: BB
authors.lastname: Jrzad
authors.forename: Raja
authors.initials: R
authors.lastname: Felah
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D003176:Complement C3 / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic / Q000235:genetics*; D011225:Pre-Eclampsia / Q000235:genetics* / Q000503:physiopathology; D011247:Pregnancy; D011446:Prospective Studies
chemical_list: D003176:Complement C3