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      Neuropsychiatric Disease and Treatment (submit here)

      This international, peer-reviewed Open Access journal by Dove Medical Press focuses on all aspects of neuropsychiatric and neurological disorders. Sign up for email alerts here.

      63,741 Monthly downloads/views I 2.989 Impact Factor I 4.5 CiteScore I 1.09 Source Normalized Impact per Paper (SNIP) I 0.744 Scimago Journal & Country Rank (SJR)

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      Association of Versican Gene Polymorphisms with Intracranial Aneurysm Susceptibility in the Eastern Chinese Population

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          Abstract

          Objective

          The proteoglycan versican (VCAN) plays an important role in extracellular matrix (ECM) assembly, and diminished maintenance of the ECM has been increasingly regarded as an important factor in the development of intracranial aneurysms (IAs). Previous studies have revealed that single-nucleotide polymorphisms (SNPs) of the VCAN gene are associated with susceptibility to IAs in European or Japanese populations. However, the association between IA susceptibility and VCAN SNPs in the Eastern Chinese population remains unclear. This study aimed to investigate the associations of the SNPs rs251124, rs2287926, and rs173686 with IA susceptibility in the Eastern Chinese population.

          Methods

          A total of 162 patients with IA and 182 controls were enrolled in this study. The study was conducted between January 2017 and December 2020. SNP genotyping for rs251124, rs2287926, and rs173686 was performed using Kompetitive Allele Specific PCR (KASP) after DNA extraction. The SNP data were analysed with CFX Manager Software version 3.1 (Bio-Rad).

          Results

          rs251124 and rs173686 were significantly associated with susceptibility to IA. The frequency of rs251124-TT in IA was higher than in controls (OR =1.26, 95% CI: 1.07–1.49; P<0.01), and its risk mainly came from the T allele. Furthermore, logistic regression analysis showed that the T/T genotype and T allele of rs251124 were independent risk factors for IA (OR=1.726, 95% CI: 1.136–2.263; P=0.011). Moreover, the G/G genotype and G allele of rs173686 were associated with increased IA susceptibility (OR=2.52, 95% CI: 1.261–5.037; P=0.009).

          Conclusion

          The SNPs rs251124 and rs173686 were strongly associated with genetic susceptibility to IA in the Eastern Chinese population; however, no such association was found in the SNP rs2287926 of VCAN. Our findings suggest that the VCAN gene is an IA susceptible gene that should be further studied as a screening marker for IAs.

          Most cited references16

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          Stroke Risk Factors, Genetics, and Prevention.

          Amelia K. Boehme, Charles Esenwa, Mitchell S. V. Elkind (2017)
          Stroke is a heterogeneous syndrome, and determining risk factors and treatment depends on the specific pathogenesis of stroke. Risk factors for stroke can be categorized as modifiable and nonmodifiable. Age, sex, and race/ethnicity are nonmodifiable risk factors for both ischemic and hemorrhagic stroke, while hypertension, smoking, diet, and physical inactivity are among some of the more commonly reported modifiable risk factors. More recently described risk factors and triggers of stroke include inflammatory disorders, infection, pollution, and cardiac atrial disorders independent of atrial fibrillation. Single-gene disorders may cause rare, hereditary disorders for which stroke is a primary manifestation. Recent research also suggests that common and rare genetic polymorphisms can influence risk of more common causes of stroke, due to both other risk factors and specific stroke mechanisms, such as atrial fibrillation. Genetic factors, particularly those with environmental interactions, may be more modifiable than previously recognized. Stroke prevention has generally focused on modifiable risk factors. Lifestyle and behavioral modification, such as dietary changes or smoking cessation, not only reduces stroke risk, but also reduces the risk of other cardiovascular diseases. Other prevention strategies include identifying and treating medical conditions, such as hypertension and diabetes, that increase stroke risk. Recent research into risk factors and genetics of stroke has not only identified those at risk for stroke but also identified ways to target at-risk populations for stroke prevention.
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            Molecular basis and genetic predisposition to intracranial aneurysm

            Gerard Tromp, Shantel Weinsheimer, Antti Ronkainen … (2014)
            Intracranial aneurysms, also called cerebral aneurysms, are dilatations in the arteries that supply blood to the brain. Rupture of an intracranial aneurysm leads to a subarachnoid hemorrhage, which is fatal in about 50% of the cases. Intracranial aneurysms can be repaired surgically or endovascularly, or by combining these two treatment modalities. They are relatively common with an estimated prevalence of unruptured aneurysms of 2%–6% in the adult population, and are considered a complex disease with both genetic and environmental risk factors. Known risk factors include smoking, hypertension, increasing age, and positive family history for intracranial aneurysms. Identifying the molecular mechanisms underlying the pathogenesis of intracranial aneurysms is complex. Genome-wide approaches such as DNA linkage and genetic association studies, as well as microarray-based mRNA expression studies, provide unbiased approaches to identify genetic risk factors and dissecting the molecular pathobiology of intracranial aneurysms. The ultimate goal of these studies is to use the information in clinical practice to predict an individual's risk for developing an aneurysm or monitor its growth or rupture risk. Another important goal is to design new therapies based on the information on mechanisms of disease processes to prevent the development or halt the progression of intracranial aneurysms.
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              Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11.

              K Takakura, H Onda, J Takeda … (2001)
              Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, a devastating condition with high morbidity and mortality. Angiographic and autopsy studies show that IA is a common disorder, with a prevalence of 3%-6%. Although IA has a substantial genetic component, little attention has been given to the genetic determinants. We report here a genomewide linkage study of IA in 104 Japanese affected sib pairs in which positive evidence of linkage on chromosomes 5q22-31 (maximum LOD score [MLS] 2.24), 7q11 (MLS 3.22), and 14q22 (MLS 2.31) were found. The best evidence of linkage is detected at D7S2472, in the vicinity of the elastin gene (ELN), a candidate gene for IA. Fourteen distinct single-nucleotide polymorphisms (SNPs) were identified in ELN, and no obvious allelic association between IA and each SNP was observed. The haplotype between the intron-20/intron-23 polymorphism of ELN is strongly associated with IA (P=3.81x10-6), and homozygous patients are at high risk (P=.002), with an odds ratio of 4.39. These findings suggest that a genetic locus for IA lies within or close to the ELN locus on chromosome 7.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Neuropsychiatr Dis Treat
                Journal ID (iso-abbrev): Neuropsychiatr Dis Treat
                Journal ID (publisher-id): ndt
                Title: Neuropsychiatric Disease and Treatment
                Publisher: Dove
                ISSN (Print): 1176-6328
                ISSN (Electronic): 1178-2021
                Publication date (Electronic): 07 December 2021
                Publication date Collection: 2021
                Volume: 17
                Pages: 3531-3537
                Affiliations
                [1 ]Department of Neurology, First Affiliated Hospital of Anhui University of Science and Technology, First People’s Hospital of Huainan , Huainan, 232007, People’s Republic of China
                [2 ]Department of Gastroenterology, First Affiliated Hospital of Anhui University of Science and Technology,First People’s Hospital of Huainan , Huainan, 232007, People’s Republic of China
                [3 ]Department of Neurosurgery, General Hospital of Huainan Oriental Hospital Group , Huainan, 232007, People’s Republic of China
                [4 ]Department of Comprehensive Health Care, Affiliated Hangzhou First People’s Hospital, Zhejiang University School of Medicine , Hangzhou, 310000, People’s Republic of China
                [5 ]Department of Neurosurgery, First Affiliated Hospital of Anhui University of Science and Technology, First People’s Hospital of Huainan , Huainan, 232007, People’s Republic of China
                Author notes
                Correspondence: Chuanqing Yu; Mei Zhang Department of Neurology, First Affiliated Hospital of Anhui University of Science and Technology, First People’s Hospital of Huainan , 203 Huaibin Road, Huainan, 232007, Anhui Province, People’s Republic of China Tel +86-18949669880; +86-18949669978 Email yuchuanqin1967@126.com; hnzhangmei2008@126.com
                Author information
                http://orcid.org/0000-0003-1299-3655
                http://orcid.org/0000-0001-7829-8271
                Article
                Publisher ID: 338311
                DOI: 10.2147/NDT.S338311
                PMC ID: 8665873
                PubMed ID: 34908835
                SO-VID: e69b8cef-4f52-40ee-9c27-34cffe73fc10
                Copyright © © 2021 Zhu et al.
                License:

                This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License ( http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms ( https://www.dovepress.com/terms.php).

                History
                Date received : 28 September 2021
                Date accepted : 30 November 2021
                Page count
                Figures: 0, Tables: 11, References: 16, Pages: 7
                Categories
                Subject: Original Research

                ScienceOpen disciplines: Neurology
                Keywords: intracranial aneurysm,susceptibility,vcan gene,eastern chinese population,snp
                Data availability:
                ScienceOpen disciplines: Neurology
                Keywords: intracranial aneurysm, susceptibility, vcan gene, eastern chinese population, snp

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