title: Association of Leptin Receptor Gene Polymorphisms with Genetic Susceptibility to Ischemic Stroke.
abstract: BACKGROUND
  Ischemic stroke is a multifactorial disease that is influenced by both genetic and environmental factors. Identification of the genetic factors that are underlining this disease is important. Leptin receptor (LEPR) mediates the leptin-regulated human energy homeostasis, and mutations of LEPR can increase cardiovascular risks and may predispose an individual to ischemic stroke.
  
  
  METHODS
  We analyzed distribution of 3 single nucleotide polymorphisms (SNPs) of LEPR gene (Lys109Arg, Gln223Arg, and Lys656Asn) in 101 patients with ischemic stroke and 105 controls by polymerase chain reaction-restriction fragment length polymorphism strategy.
  
  
  RESULTS
  Our results showed that there were significant differences in the genotype and allele distribution of Lys109Arg and Gln223Arg polymorphisms of the LEPR gene between case and control. The 109GG and 223GG genotype were associated with a significantly increased risk of ischemic stroke (odds ratio [OR], 3.23; P = .001 and OR, 2.87; P = .008, respectively). The 109G and 223G alleles carriers were correlated with an increased incidence of ischemic stroke (OR, 2.72; P = .001; OR, 2.94; P = .004). By haplotype analyses, we found that 109A/223G/656G haplotype was associated with an increased risk of ischemic stroke although this was not observed in the control group (OR, 3.86; P = .029).
  
  
  CONCLUSIONS
  LEPR 109GG and 223GG genotypes and the 109G and 223G alleles are associated with the risk of ischemic stroke. Our data suggest that LEPR Lys109Arg and Gln223Arg polymorphisms could be used as genetic predictive factor for ischemic stroke.
authors.affiliation: Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, SiChuan University, ChengDu, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Tang
authors.affiliation: Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, SiChuan University, ChengDu, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, SiChuan University, ChengDu, China.
authors.forename: Zheng-Ke
authors.initials: ZK
authors.lastname: Li
authors.affiliation: Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, SiChuan University, ChengDu, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Lin
authors.affiliation: Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, SiChuan University, ChengDu, China. Electronic address: dzfang@scu.edu.cn.
authors.forename: Ding-Zhi
authors.initials: DZ
authors.lastname: Fang
mesh_terms: D000368:Aged; D002545:Brain Ischemia / Q000150:complications; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D054411:Receptors, Leptin / Q000235:genetics*; D020521:Stroke / Q000209:etiology / Q000235:genetics*
chemical_list: D054411:Receptors, Leptin
keywords: Ischemic stroke; PCR-RFLP; leptin receptor; single nucleotide polymorphism