title: [Variations of apolipoprotein A IV gene in Chinese endogenous hypertriglyceridemics].
abstract: OBJECTIVE
  The aim of this study was to investigate variations of apolipoprotein A IV (apo A IV) gene and its relation to endogenous hypertriglyceridemia(HTG) in Chinese population.
  
  
  METHODS
  One hundred and six endogenous hypertriglyceridemics and 171 healthy subjects from a population of Chinese Han nationality in Chengdu area were studied using restriction fragment length polymorphisms (RFLPs) and sequencing of apoA IV gene amplified by polymerase chain reaction (PCR). The polymorphic sites of apo A IV gene studied included codon 9 (A to G, synonymous mutation), codon 347 (A to T, non-synonymous mutation), codon 360 (G to T, non-synonymous mutation), and Msp I polymorphism (CC/TGG) within intron 2.
  
  
  RESULTS
  The frequency of G allele at codon 9 in HTG group was higher than that in healthy controls(0.453 vs 0.366, P<0.05). The other polymorphic sites showed no significant differences of the allele frequencies between the two groups. The frequencies of rare alleles, such as G allele at codon 9, T allele at codon 347 and T allele at codon 360 polymorphic site were significantly different from those reported in European Caucasians (0.366 vs 0.032, P<0.001, 0.000 vs 0.160, P<0.001; 0.000 vs 0.070, P<0.001), but no differences were found when compared with those in Japanese, including Msp I site (P>0.05). In the healthy male control group, subjects with genotype G/G of codon 9 had a higher serum mean concentration of apoA I when compared with that of genotype A/A(P<0.01). In the HTG group, subjects with genotype C/T of Msp I site had a higher serum mean concentration of TG with compared with those with genotype C/C and T/T (P<0.05). This difference was only observed in male HTG group when male and female subgroups were further separated.
  
  
  CONCLUSIONS
  These results suggest that Msp I and codon 9 polymorphism in apoA IV gene are associated with endogenous hypertriglyceridemia to some extent in Chinese population.
authors.affiliation: Department of Biochemistry and Apolipoprotein Research Unit, Sichuan University, Chengdu, Sichuan 610041 P. R. China. bwliu1205@hotmail.com
authors.forename: Huai
authors.initials: H
authors.lastname: Bai
authors.forename: Rui
authors.initials: R
authors.lastname: Liu
authors.forename: Yu
authors.initials: Y
authors.lastname: Liu
authors.forename: Bingwen
authors.initials: B
authors.lastname: Liu
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001054:Apolipoproteins A / Q000235:genetics*; D001483:Base Sequence; D002681:China; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation; D006801:Humans; D015228:Hypertriglyceridemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D001054:Apolipoproteins A; C022205:apolipoprotein A-IV; D004247:DNA