title: Single-Nucleotide Polymorphisms of Tight Junction Component Claudin-1 Associated with Leukoaraiosis.
abstract: BACKGROUND
  The blood-brain barrier (BBB) plays a major role in the development of leukoaraiosis (LA). The junctional complex of BBB consists of tight junction (TJ) and adherens junction (AJ). Claudin-1 is the integral component of TJ. The aim of this study was to evaluate whether genetic variations in claudin-1 gene are associated with the development of LA.
  
  
  METHODS
  LA has to be diagnosed based on images. A total of 228 LA cases and 203 controls were enrolled from the individuals who underwent brain magnetic resonance imaging with obtainable vascular risk factors. Genotyping of claudin-1 single-nucleotide polymorphisms (SNPs) (rs17501010, rs893051, and rs9290927) was performed by real-time polymerase chain reaction with LightSNiP reagents (coupled primer and probe) and FastStart DNAMaster HybProbe (Roche Diagnostic, GmBH, Mannheim, Germany) in LightCycler 2.0.
  
  
  RESULTS
  Among the 3 SNPs of claudin-1, a significant genetic difference was found only between control and LA (both LA-periventricular white matter [PVWM] and LA-subcortical deep white matter) with SNP rs9290927. However, their haplotypes G-G-T and G-C-A were significantly different between LA-PVWM and control, which increase the development of LA-PVWM with odds ratios of 1.45 and .57, respectively.
  
  
  CONCLUSIONS
  This study demonstrated first evidence of genetic polymorphism of TJ component claudin-1 and their haplotypes associated with LA.
authors.affiliation: Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Jeonju, Chonbuk, Republic of Korea; Department of Biochemistry, Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University, Kathmandu, Nepal.
authors.forename: Binod Kumar
authors.initials: BK
authors.lastname: Yadav
authors.affiliation: Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Jeonju, Chonbuk, Republic of Korea; Department of Neurology, Chonbuk National University Medical School, Jeonju, Chonbuk, Republic of Korea. Electronic address: sbsoo@jbnu.ac.kr.
authors.forename: Byoung-Soo
authors.initials: BS
authors.lastname: Shin
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D062445:Claudin-1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D049292:Leukoaraiosis / Q000175:diagnosis / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D012307:Risk Factors
chemical_list: C568108:CLDN1 protein, human; D062445:Claudin-1
keywords: Leukoaraiosis; blood–brain barrier; claudin-1; genetic polymorphism