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Updated: Feb 7, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Single-nucleotide polymorphisms of the adherent junction component cadherin gene are associated with leukoaraiosis
Binod Kumar Yadav1, Byoung-Soo Shin2
1Department of Biochemistry, Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University, Kathmandu, Nepal.
Background:
Leukoaraiosis (LA) is one of the manifestations of cerebral small vessel disease. Blood-brain barrier (BBB) disruption plays a key role in LA. Cadherin is a component of adherent junctions (AJ), which play a crucial role in cell-cell adhesion, cell-cell recognition and homeostasis in BBB development. We hypothesized that alterations in cadherin genes might be a potential cause of BBB abnormalities that result in LA.
Methods:
A total of 339 LA individuals (LA-PVWM, 183; LA-DWM 156) were enrolled, who underwent brain magnetic resonance imaging with obtainable vascular risk factors. Genotyping of cadherin single-nucleotide polymorphisms (SNPs) (rs5030625, rs1801026, and rs16260) was performed by real-time polymerase chain reaction with LightSNiP reagents (coupled primer and probe) and FastStart DNAMaster HybProbe (Roche Diagnostic, GmBH, Mannheim, Germany) on a LightCycler 2.0 instrument.
Results:
Two SNPs, rs1801026 and rs16260, were significantly different between the control and LA groups. The combinatorial effects of the three SNPs were also significant. The haplotypes G-T-C and GA-T-A increased the development of LA-PVWM (OR = 1.76 and OR = 40.7, respectively). The haplotypes G-T-A and GA-T-A increased the development of LA-DWM (OR = 2.56 and OR = 10.48, respectively), but G-C-C decreased the development of LA-DWM (OR = 17.57).
Conclusion:
This study provides evidence for genetic polymorphisms of the AJ component cadherin gene and the association of its haplotypes with LA.
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