title: Identification of Sequence Variation in the Apolipoprotein A2 Gene and Their Relationship with Serum High-Density Lipoprotein Cholesterol Levels.
abstract: BACKGROUND
  Apolipoprotein A2 (APOA2) is the second major apolipoprotein of the high-density lipoprotein cholesterol (HDL-C). The study aim was to identify APOA2 gene variation in individuals within two extreme tails of HDL-C levels and its relationship with HDL-C level.
  
  
  METHODS
  This cross-sectional survey was conducted on participants from Tehran Glucose and Lipid Study (TLGS) at Research Institute for Endocrine Sciences, Tehran, Iran from April 2012 to February 2013. In total, 79 individuals with extreme low HDL-C levels (≤5th percentile for age and gender) and 63 individuals with extreme high HDL-C levels (≥95th percentile for age and gender) were selected. Variants were identified using DNA amplification and direct sequencing.
  
  
  RESULTS
  Screen of all exons and the core promoter region of APOA2 gene identified nine single nucleotide substitutions and one microsatellite; five of which were known and four were new variants. Of these nine variants, two were common tag single nucleotide polymorphisms (SNPs) and seven were rare SNPs. Both exonic substitutions were missense mutations and caused an amino acid change. There was a significant association between the new missense mutation (variant Chr.1:16119226, Ala98Pro) and HDL-C level.
  
  
  CONCLUSIONS
  None of two common tag SNPs of rs6413453 and rs5082 contributes to the HDL-C trait in Iranian population, but a new missense mutation in APOA2 in our population has a significant association with HDL-C.
authors.affiliation: Diabetes Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.|Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Bandarian
authors.affiliation: Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Maryam Sadat
authors.initials: MS
authors.lastname: Daneshpour
authors.affiliation: Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mehdi
authors.initials: M
authors.lastname: Hedayati
authors.affiliation: Genomic Research Center, Birjand University of Medical Sciences, Birjand, Iran.
authors.forename: Mohsen
authors.initials: M
authors.lastname: Naseri
authors.affiliation: Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Fereidoun
authors.initials: F
authors.lastname: Azizi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016633:Apolipoprotein A-II / Q000097:blood* / Q000235:genetics*; D008076:Cholesterol, HDL / Q000097:blood* / Q000235:genetics*; D003430:Cross-Sectional Studies; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D055815:Young Adult
chemical_list: C115794:APOA2 protein, human; D016633:Apolipoprotein A-II; D008076:Cholesterol, HDL
keywords: Apolipoprotein A-II; Genes; Hyperlipidemia; Mutation; Polymorphism