title: Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.
abstract: OBJECTIVE
  To investigate the contribution of the estrogen receptor alpha (ERalpha) polymorphism in the development of obstetric cholestasis and to determine whether multidrug resistance 3 (MDR3) gene 1712delT mutation detected in French patients is also present in Finnish women with obstetric cholestasis.
  
  
  METHODS
  In a retrospective case-control study, two ERalpha polymorphisms and MDR3 gene mutation 1712delT were investigated in healthy control women (N=47) and in women with diagnosis of obstetric cholestasis (N=57). PvuII and XbaI polymorphisms in ERalpha gene were evaluated in genomic DNA by using the polymerase chain reaction (PCR). In addition, the frequencies in the general population in our area are presented for comparison.
  
  
  RESULTS
  None of the ERalpha genotypes or alleles was significantly over-represented in obstetric cholestasis. When the two ERalpha gene polymorphisms were analyzed in parallel, six genotype combinations were recognized, and the distribution of these genotype combinations did not reveal statistically significant differences between the cases and controls (P=0.612). No patient or control was heterozygous or homozygous for the mutant allele in the MDR3 gene.
  
  
  CONCLUSIONS
  The present data indicate that polymorphism of the ERalpha and MDR3 genes 1712delT mutation are unlikely to play any significant role in obstetric cholestasis in affected Finnish women. Further work to identify explanatory factors is of particular interest.
authors.affiliation: Department of Obstetrics and Gynecology, Kuopio University Hospital, 70211 Kuopio, Finland.
authors.forename: Marja-Liisa
authors.initials: ML
authors.lastname: Eloranta
authors.forename: Jaana T M
authors.initials: JT
authors.lastname: Heiskanen
authors.forename: Mikko J
authors.initials: MJ
authors.lastname: Hiltunen
authors.forename: Arto J
authors.initials: AJ
authors.lastname: Mannermaa
authors.forename: Kari R A
authors.initials: KR
authors.lastname: Punnonen
authors.forename: Seppo T
authors.initials: ST
authors.lastname: Heinonen
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics*; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D047628:Estrogen Receptor alpha; D005260:Female; D005387:Finland; D017353:Gene Deletion; D006801:Humans; D008423:Maternal Age; D009154:Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011248:Pregnancy Complications; D011960:Receptors, Estrogen / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; D018528:ATP-Binding Cassette Transporters; D047628:Estrogen Receptor alpha; D011960:Receptors, Estrogen; C095122:multidrug resistance protein 3; C025580:endodeoxyribonuclease XBAI; C025630:CAGCTG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific