1. Association of genetic polymorphisms of claudin-1 with small vessel vascular dementia
- Author
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Eunice Kar Wing Chan, Nady Braidy, Vivek Srinivasan, Kiran Kancherla, Sashiruben Chandramohan, Yinghua Xu, Peter Xie, and Daniel Ky Chan
- Subjects
Male ,medicine.medical_specialty ,Physiology ,Population ,Single-nucleotide polymorphism ,Type 2 diabetes ,Bioinformatics ,Polymorphism, Single Nucleotide ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Physiology (medical) ,Internal medicine ,Claudin-1 ,Genotype ,medicine ,Humans ,SNP ,Genetic Predisposition to Disease ,Vascular dementia ,education ,Aged, 80 and over ,Pharmacology ,education.field_of_study ,business.industry ,Dementia, Vascular ,Haplotype ,Odds ratio ,medicine.disease ,Case-Control Studies ,030220 oncology & carcinogenesis ,Female ,business ,030217 neurology & neurosurgery - Abstract
The most recent hypothesis of the development of small vessel vascular dementia (VaD) emphasises the role of blood-brain barrier (BBB) dysfunction. It is hypothesised that certain genetic polymorphisms of the BBB tight junction claudin-1 protein, in combination with adverse environmental risk factors, increase the risk of BBB dysfunction and small vessel VaD. In this case-control study, 97 control participants, with a mean Mini Mental State Exam (MMSE) score of 29.1, and 38 VaD participants were recruited and completed a questionnaire on their medical history and lifestyle factors. Blood was also collected and two single nucleotide polymorphisms (SNPs), rs17501010 and rs893051 of claudin-1 genotyping, were analysed by real-time polymerase chain reaction (PCR) assay. A significantly higher frequency of all rs893051 SNP genotypes (GC and CC) was found in the VaD population (OR=4.8, P=0.006 and OR=6, P
- Published
- 2017
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