RGD Reference Report - Single-Nucleotide Polymorphisms of Tight Junction Component Claudin-1 Associated with Leukoaraiosis. - Rat Genome Database

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Single-Nucleotide Polymorphisms of Tight Junction Component Claudin-1 Associated with Leukoaraiosis.

Authors: Yadav, BK  Shin, BS 
Citation: Yadav BK and Shin BS, J Stroke Cerebrovasc Dis. 2015 Jul;24(7):1662-70. doi: 10.1016/j.jstrokecerebrovasdis.2015.03.038. Epub 2015 May 5.
RGD ID: 11344876
Pubmed: PMID:25956626   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jstrokecerebrovasdis.2015.03.038   (Journal Full-text)

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.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
CLDN1HumanLeukoaraiosis  IAGP DNA:SNPs: :rs17501010, rs893051,rs9290927(human)RGD 
Cldn1RatLeukoaraiosis  ISORGD:68626DNA:SNPs: :rs17501010, rs893051,rs9290927(human)RGD 
Cldn1MouseLeukoaraiosis  ISORGD:68626DNA:SNPs: :rs17501010, rs893051,rs9290927(human)RGD 

Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
CLDN1HumanDeep cerebral white matter hyperintensities susceptibilityIAGP DNA:SNPs: :rs17501010,rs9290927(human)RGD 
CLDN1HumanPeriventricular white matter hyperintensities susceptibilityIAGP DNA:SNPs,haplotype: :rs17501010, rs893051,rs9290927(human)RGD 

Genes (Rattus norvegicus)
Cldn1  (claudin 1)

Genes (Mus musculus)
Cldn1  (claudin 1)

Genes (Homo sapiens)
CLDN1  (claudin 1)