title: Role of the 12q24.12 locus in the onset of preeclampsia: an Italian case-control study.
abstract: OBJECTIVE
  The 12q24.12 locus has been reported to be involved in the control of many traits and also in severe diseases such as cardiovascular disease, hypertension and some immune-related disease. To our knowledge, no study has been published so far investigating the role of this locus in the pathogenesis of preeclampsia (PE).
  
  
  METHODS
  We genotyped four single nucleotide polymorphisms (SNPs) in 12q24.12 locus in 198 preeclamptic, 224 chronic hypertensive and 265 normotensive women from Italy, to test the contribution polymorphisms/haplotypes on the onset of preeclampsia and their association with chronic hypertension.
  
  
  RESULTS
  No association was observed for any single SNP, while a common haplotype CGTG (21% in normotensive women) revealed a possible protective effect (OR 0.64, 95% CI 0.42-0.97) against preeclampsia.
  
  
  CONCLUSIONS
  Our data suggest that a common haplotype within 12q24.12 locus may be associated with a protective effect against preeclampsia. This observation may be linked with the potential role of this region in the control of microcirculation. To the best of our knowledge, our study is the first one that links the 12q24.12 locus with this life-threatening perinatal complication of unknown etiology. Further physiological and functional studies are needed to clarify the molecular mechanisms and pathways of preeclampsia.
authors.affiliation: Department of Genetics, Biology and Biochemistry, University of Turin, Italy. cornelia.digaetano@unito.it
authors.forename: Cornelia
authors.initials: C
authors.lastname: Di Gaetano
authors.forename: Luca
authors.initials: L
authors.lastname: Marozio
authors.forename: Floriana
authors.initials: F
authors.lastname: Voglino
authors.forename: Simonetta
authors.initials: S
authors.lastname: Guarrera
authors.forename: Annalisa
authors.initials: A
authors.lastname: Tancredi
authors.forename: Elena
authors.initials: E
authors.lastname: Gibbone
authors.forename: Chiara
authors.initials: C
authors.lastname: Benedetto
authors.forename: Mauro
authors.initials: M
authors.lastname: Gasparini
authors.forename: Alberto
authors.initials: A
authors.lastname: Piazza
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Matullo
mesh_terms: D000328:Adult; D017668:Age of Onset; D016022:Case-Control Studies; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics / Q000502:physiology; D005260:Female; D056426:Genetic Loci / Q000502:physiology*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008423:Maternal Age; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D011225:Pre-Eclampsia / Q000453:epidemiology / Q000235:genetics*; D011247:Pregnancy