The SNP43 (G/A) polymorphism in CAPN10 gene confers an increased risk of cognitive impairment in cerebral small vessel disease

J Clin Lab Anal. 2018 Nov;32(9):e22615. doi: 10.1002/jcla.22615. Epub 2018 Jul 16.

Abstract

Background: Cognitive impairment, significantly reducing processing speed and executive function, is the critical consequence of cerebral small vessel disease (SVD), in which genetic variations have been studied. In this study, we explore the role of SNP43 (G/A) and SNP63 (C/T) polymorphism in the CAPN10 on cognitive impairment process in cerebral SVD.

Methods: Cerebral SVD patients (n = 224) and healthy controls (n = 187) were recruited. The relationship between frequency distribution of SNP43 (G/A) and SNP63 (T/C) genotype and allele in CAPN10 gene, and cognitive impairment was examined. The independent risk factors for cognitive impairment in SVD were determined by logistic regression analysis.

Results: Accordingly, the frequency distribution of genotype and allele at SNP43 (G/A) was significantly different between cerebral SVD patients and healthy controls. Cerebral SVD patients with GG genotype were more susceptible for cognitive impairment, whereas cerebral SVD patients with GA + AA genotype were less possible to suffer from cognitive impairment, compared with those with GG genotype. And also, cerebral SVD does not include SNP63 (C/T) to associate with cognitive impairment, and SNP43 (G/A), total cholesterol, triglyceride, low-density lipoprotein, and high-density lipoprotein were independent risk factors for cognitive impairment in SVD.

Conclusion: Our study provides evidence that SNP43 (G/A) in the CAPN10 gene increases the risk of cognitive impairment in SVD patients. Besides it is proven that, patients with G allele are more susceptible to suffer from cerebral SVD with worse cognitive impairment.

Keywords: CAPN10 gene; SNP43 (G/A); SNP63 (C/T); allele; cerebral small vessel disease; cognitive impairment; polymorphism.

MeSH terms

  • Aged
  • Blood Pressure / genetics
  • Calpain / genetics*
  • Cerebral Small Vessel Diseases / complications*
  • Cerebral Small Vessel Diseases / diagnostic imaging
  • Cerebral Small Vessel Diseases / genetics*
  • Cognition Disorders / diagnostic imaging
  • Cognition Disorders / etiology*
  • Cognition Disorders / genetics
  • Female
  • Genotype
  • Humans
  • Logistic Models
  • Magnetic Resonance Imaging
  • Male
  • Neuropsychological Tests
  • Polymorphism, Single Nucleotide / genetics*
  • Retrospective Studies
  • Risk Factors

Substances

  • Calpain
  • calpain 10