GJA1 Gene Polymorphisms and Topographic Distribution of Cranial MRI Lesions in Cerebral Small Vessel Disease
| Autor: | Haiqiang Jin, Jing Zhang, Junlong Shu, Qian You, Yining Huang, Wei Zhang, Wei Sun, Qiang Gang, Meng Yu |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty gene polymorphism business.industry Connexin Locus (genetics) Disease Hyperintensity lcsh:RC346-429 Pathogenesis connexins Neurology CSVD distribution Medicine Neurology (clinical) Gene polymorphism Small vessel business Gene lcsh:Neurology. Diseases of the nervous system Original Research MRI |
| Zdroj: | Frontiers in Neurology, Vol 11 (2020) Frontiers in Neurology |
| ISSN: | 1664-2295 |
| DOI: | 10.3389/fneur.2020.583974/full |
| Popis: | Vascular endothelial cell (EC) and blood–brain barrier (BBB) dysfunction is the core pathogenesis of cerebral small vessel disease (CSVD). Moreover, animal experiments have shown the importance of connexin (Cx)-43 in EC and BBB function. In this study, we recruited 200 patients diagnosed with sporadic CSVD. Initially, we examined imaging scores of white matter hyperintensities (WMH), lacunar infarction (LI), and cerebral microbleeds (CMB). Additionally, we performed next-generation sequencing of the GJA1 gene (Cx43 coding gene) to examine correlation between these single-nucleotide polymorphisms and the burden and distribution of CSVD. Fourteen target loci were chosen. Of these, 13 loci (92.9%) contributed toward risk for cerebellar LI, one locus (7.1%) was shown to be a protective factor for lobar CMB after FDR adjustment. In conclusion, single-nucleotide polymorphisms in the GJA1 gene appear to affect the distribution but not severity of CSVD. |
| Databáze: | OpenAIRE |
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