title: Association of APOE-C1 gene cluster polymorphisms with gallstone disease.
abstract: BACKGROUND
  Genetic polymorphisms in apolipoprotein genes may be associated with alteration in lipid profile and susceptibility to gallstone disease.
  
  
  OBJECTIVE
  To find out the association of APOE HhaI and APOC1 HpaI polymorphisms with gallstone disease.
  
  
  METHODS
  HhaI polymorphism of APOE and HpaI polymorphism of APOC1 were analysed in DNA samples of 214 gallstone patients and 322 age- and sex-matched healthy controls.
  
  
  METHODS
  For genotyping DNA samples of all study subjects were amplified using polymerase chain reaction, followed by restriction digestion. All statistical analyses were done using SPSS v11.5 and ARLEQUIN v2.0 softwares.
  
  
  RESULTS
  APOC1 HpaI polymorphism was found to be significantly associated with gallstone disease. Frequency of H2H2 was significantly higher (P = 0.017) in patients than in controls and it was imposing very high risk (OR 9.416, 95% CI 1.125-78.786) for gallstone disease. When data were stratified in male and female, H2H2 was associated (P = 0.011) with disease in females only. Analysis at allele level revealed no association. APOE HhaI polymorphism and APOE-C1 haplotypes showed no association with gallstone disease.
  
  
  CONCLUSIONS
  APOC1 HpaI polymorphism is associated with gallstone disease and shows gender-specific differences. APOE HhaI polymorphism may not be associated with gallstone disease.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India. manjushadixit99@yahoo.com
authors.forename: M
authors.initials: M
authors.lastname: Dixit
authors.forename: G
authors.initials: G
authors.lastname: Choudhuri
authors.forename: B
authors.initials: B
authors.lastname: Mittal
mesh_terms: D000328:Adult; D053302:Apolipoprotein C-I / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D002769:Cholelithiasis / Q000208:ethnology / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics / Q000378:metabolism; D005260:Female; D042882:Gallstones / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D005810:Multigene Family; D011110:Polymorphism, Genetic
chemical_list: C505803:APOC1 protein, human; D053302:Apolipoprotein C-I; D001057:Apolipoproteins E; D015252:Deoxyribonucleases, Type II Site-Specific; C037130:GCGC-specific type II deoxyribonucleases