title: Association of angiotensin converting enzyme gene insertion/deletion polymorphism and familial hypercholesterolemia in the Saudi population.
abstract: BACKGROUND
  The study of the association between genotype and phenotype is of great importance for the prediction of multiple diseases and pathophysiological conditions. The relationship between angiotensin converting enzyme (ACE) Insertion/Deletion (I/D) polymorphism and Familial Hypercholesterolemia (FH) has been not fully investigated in all the ethnicities. In this study we sought to determine the frequency of I/D polymorphism genotypes of ACE gene in Saudi patients with FH.
  
  
  RESULTS
  This is a case-control study carried out purely in Saudi population. Genomic DNA was isolated from 128 subjects who have participated in this study. ACE gene I/D polymorphism was analyzed by polymerase chain reaction in 64 FH cases and 64 healthy controls. There was no statistically significant difference between the groups with respect to genotype distribution. Furthermore, we did not find any significant difference in the frequency of ACE I/D polymorphism in FH subjects when stratified by gender (p = 0.43).
  
  
  CONCLUSIONS
  Our data suggest that ACE gene I/D polymorphism examined in this study has no role in predicting the occurrence and diagnosis of FH.
authors.forename: Khalid K
authors.initials: KK
authors.lastname: Alharbi
authors.forename: Tarek S
authors.initials: TS
authors.lastname: Kashour
authors.forename: Wejdan
authors.initials: W
authors.lastname: Al-Hussaini
authors.forename: May Salem
authors.initials: MS
authors.lastname: Al-Nbaheen
authors.forename: Sarar
authors.initials: S
authors.lastname: Mohamed
authors.forename: Rana M W
authors.initials: RM
authors.lastname: Hasanato
authors.forename: Waleed
authors.initials: W
authors.lastname: Tamimi
authors.forename: Mohammed Yahya
authors.initials: MY
authors.lastname: Al-Naami
authors.affiliation: Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P,O, Box 10219, Riyadh 11433, Kingdom of Saudi Arabia. imkhan@ksu.edu.sa.
authors.forename: Imran Ali
authors.initials: IA
authors.lastname: Khan
mesh_terms: D000328:Adult; D000483:Alleles; D018912:Arabs; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D012529:Saudi Arabia; D017384:Sequence Deletion
chemical_list: C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A