title: Association between ins4436A in 11β-hydroxysteroid dehydrogenase type 1 gene and essential hypertension in Polish population.
abstract: BACKGROUND
  Essential hypertension (EH) is the most common cardiovascular disease worldwide, and it has a strong genetic component. Cortisol homeostasis is an important factor in controlling blood pressure, and the availability of this hormone is regulated by 11βhydroxysteroid dehydrogenase type 1 enzyme (11βHSD1), which converts cortisone into cortisol.
  
  
  METHODS
  We investigated the correlation between EH and the single nucleotide polymorphism (SNP) ins4436A located on the hydroxysteroid (11-beta) dehydrogenase 1 gene among the Polish population. The study included a total of 268 patients with confirmed EH and 151 unrelated controls. All studied polymorphisms were detected using the restriction fragment length polymorphism (RFLP) method.
  
  
  RESULTS
  The carriage of ins4436A (rs45487298) polymorphism in intron 3 of the HSD11B1 gene was more frequent among patients with EH than among controls (p=0.013). The analysis of association of ins4436A with the risk of EH indicated an odds ratio (OR) of 2.44 (95% confidential interval: 1.24-4.82). Moreover, essential hypertension occurred less frequently in males than in females. Results of multivariate analysis in the study group showed that ins4436A is a strong predictor of diabetes mellitus type 2 and ins4436A may lead to a decrease of the high-density lipoprotein (HDL) cholesterol level.
  
  
  CONCLUSIONS
  The cause of essential hypertension has not been fully established, but genetic factors seem to play a very important role. In our study we found that ins4436A in the HSD11B1 gene was associated with essential hypertension in a Polish population. Nevertheless, the impact of ins4436A in the HSD11B1 gene on the occurrence of essential hypertension requires further investigations.
authors.affiliation: Department of Medical Biotechnology, Medical University of Lodz, Poland.
authors.forename: Paulina
authors.initials: P
authors.lastname: Hejduk
authors.affiliation: Department of Medical Biotechnology, Medical University of Lodz, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Sakowicz
authors.affiliation: Department of Medical Biotechnology, Medical University of Lodz, Poland.
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Pietrucha
mesh_terms: D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1 / Q000235:genetics*; D000368:Aged; D008076:Cholesterol, HDL / Q000097:blood; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology / Q000235:genetics; D000075222:Essential Hypertension; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011044:Poland; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics*
chemical_list: D008076:Cholesterol, HDL; D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1; C468386:HSD11B1 protein, human