title: [The linkage disequilibrium of four loci in hepatic lipase promoter gene of cerebral infarction patients in Shanghai].
abstract: OBJECTIVE
  To investigate the single nucleotide polymorphism (SNP), the distribution of their haplotypes and linkage disequilibrium of hepatic lipase (HL) gene promoter 250G/A, 514C/T, 710T/C and 763A/G in cerebral infarction patients of Shanghai.
  
  
  METHODS
  Peripheral blood sample were collected from 133 patients with cerebral infarction and 112 healthy controls in Shanghai. The HL gene polymorphism was analyzed by polymerase chain reaction- restriction fragment length polymorphism.
  
  
  RESULTS
  There were statistically significant differences in genotype and allele frequencies between the healthy controls and the patients with cerebral infarction in -250G/A and -514C/T genotypes and allele frequencies (all P < 0.05). However, there were no significant differences in genotype and allele frequencies in -710T/C and -763A/G between the healthy controls and the patients with cerebral infarction (all P > 0.05). Besides, there was a strong linkage disequilibrium between -250G/A and -514C/T, -710T/C, and -763A/G respectively, between -514C/T and -710T/C and -763A/G respectively, and between -710T/C and -763A/G. When the haplotypes were -250G/-514C, -250G/-710C, -250G/-763G, -514C/-710C, and 514C/-763G respectively, the frequencies in the cerebral infarction group were significantly lower than that in the healthy controls. When the haplotype was -250A/-514T, -250A/-710T, -250A/-710C, -250A/-763G, -514T/-710C, -514T/-763G, and -710T/-763G respectively, the frequencies in the cerebral infarction group were significantly higher than those in the healthy controls.
  
  
  CONCLUSIONS
  There are significant haplotypes and linkage disequilibrium among the four SNPs of HL gene in the cerebral infarction patients of Shanghai. The haplotypes GC, GG, and CC lower the incidence rate of cerebral infarction, while the haplotypes AT, AC, AG, TC, and TG increase the incidence rate of cerebral infarction.
authors.affiliation: Department of Neurology, Ruijin Hospital, Department of Medical Laboratory, School of Medicine, Shanghai Jiaotong University, Shanghai, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Fu
authors.forename: Pei-hua
authors.initials: PH
authors.lastname: Ni
authors.forename: Ya-yun
authors.initials: YY
authors.lastname: Ying
authors.forename: Jian-rong
authors.initials: JR
authors.lastname: Liu
authors.forename: Yong-jian
authors.initials: YJ
authors.lastname: Song
authors.forename: Xiao-yu
authors.initials: XY
authors.lastname: Xin
authors.forename: Zheng-liang
authors.initials: ZL
authors.lastname: Guo
authors.forename: Sheng-di
authors.initials: SD
authors.lastname: Chen
mesh_terms: D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D002544:Cerebral Infarction / Q000201:enzymology / Q000235:genetics*; D002681:China; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008049:Lipase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: C504173:LIPC protein, human; D008049:Lipase