Document Detail

Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy.
MedLine Citation:
PMID:  20617557     Owner:  NLM     Status:  MEDLINE    
An intronic single nucleotide polymorphism (SNP) in the CYP3A5 gene (CYP3A5*3; SNP rs776746) affects RNA splicing and enzymatic activity. The CYP3A5*3 frequency increased with distance from the equator and natural selection has been proposed to explain the worldwide distribution of this allele. CYP3A activity has been related with the risk for hypertension in pregnancy, a major cause of morbidity and mortality among women, and CYP3A5*3 could reduce the risk for this disease in populations from regions with high sodium and water availability. The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the risk for hypertension in pregnancy has not been evaluated.We compared the allele and genotype frequencies of three functional SNPs in the CYP3A5 (rs776746), CYP3A4 (rs2740574), and CYP21A2 (rs6471) genes between pregnant women who developed hypertension (n = 250) or who remained normotensive (control group, n = 250). In addition, we sequenced the full CYP3A5 coding sequence in 40 women from the two groups to determine whether some gene variants could explain the risk for hypertensive pregnancies in our population.Allele and genotype frequencies did not differ between hypertensive and normotensive women for the three CYP variants. We did not find CYP3A5 nucleotide changes that could explain a higher risk for hypertension in pregnancy. Our data suggests that the variation in CYP3A5, CYP3A4, and CYP21A2 did not contribute to the risk for hypertension in pregnancy in our population.
Eliecer Coto; Beatriz Tavira; Rafael Marín; Francisco Ortega; Carlos López-Larrea; Marta Ruiz-Ortega; Alberto Ortiz; Marta Díaz; Ana I Corao; Belén Alonso; Victoria Alvarez
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Biochemical and biophysical research communications     Volume:  397     ISSN:  1090-2104     ISO Abbreviation:  Biochem. Biophys. Res. Commun.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-07-08     Completed Date:  2010-08-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372516     Medline TA:  Biochem Biophys Res Commun     Country:  United States    
Other Details:
Languages:  eng     Pagination:  576-9     Citation Subset:  IM    
Genética Molecular-Red de Investigación Renal (REDINREN)-Fundación Renal, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain.
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MeSH Terms
Cytochrome P-450 CYP3A / genetics*
Gene Frequency
Genetic Predisposition to Disease
Hypertension / epidemiology,  genetics*
Polymorphism, Genetic
Pregnancy Complications, Cardiovascular / epidemiology,  genetics*
Spain / epidemiology
Steroid 21-Hydroxylase / genetics*
Young Adult
Reg. No./Substance:
EC protein, human; EC protein, human; EC P-450 CYP3A; EC protein, human; EC 21-Hydroxylase

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