Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
권호 표지
DOI QR코드

DOI QR Code

Genetic Screening for Mutations in the Chip Gene in Intracranial Aneurysm Patients of Chinese Han Nationality

  • Su, Li (Department of Neurosurgery, the First Affiliated Hospital of Baotou Medical College) ;
  • Zhang, Yuan (Department of Pathophysiology, Baotou Medical College) ;
  • Zhang, Chun-Yang (Department of Neurosurgery, the First Affiliated Hospital of Baotou Medical College) ;
  • Zhang, An-Long (Department of Neurosurgery, the First Affiliated Hospital of Baotou Medical College) ;
  • Mei, Xiao-Long (Department of Neurosurgery, the First Affiliated Hospital of Baotou Medical College) ;
  • Zhao, Zhi-Jun (Department of Neurosurgery, the First Affiliated Hospital of Baotou Medical College) ;
  • Han, Jian-Guo (Department of Neurosurgery, the First Affiliated Hospital of Baotou Medical College) ;
  • Zhao, Li-Jun (Department of Neurosurgery, the First Affiliated Hospital of Baotou Medical College)
  • Published : 2013.03.30
Download PDF
⟨ Previous Next ⟩

Abstract

We performed a case-control study to investigate whether SNPs of CHIP might affect the development of IA in Chinese Han nationality. We believe we are the first to have screened IA patients for mutations in the CHIP gene to determine the association with these variants. The study group comprised 224 Chinese Han nationality patients with at least one intracranial aneurysm and 238 unrelated healthy Han nationality controls. Genomic DNA was isolated from blood leukocytes. The entire coding regions of CHIP were genotyped by PCR amplification and DNA sequencing. Differences in genotype and allele frequencies between patients and controls were tested by the chi-square method. Genotype and allele frequencies of the SNP rs116166850 was demonstrated to be in Hardy-Weinberg equilibrium. No significant difference in genotype or allele frequencies between case and control groups was detected at the SNP. Our data do not support the hypothesis of a major role for the CHIP gene in IA development in the Chinese Han population.

Keywords

References

  1. Aoki TM, Kataoka HH, Shimamura MH, et al (2007) . NF-${\kappa}B$ is a key mediator of cerebral aneurysm formation. Circulation, 116, 2830-40. https://doi.org/10.1161/CIRCULATIONAHA.107.728303
  2. Ballinger CA, Connell P, Wu Y, et al (1999). Identification of CHIP, a novel tetratricopeptide repeat-containing protein that interacts with heat shock proteins and negatively regulates chaperone functions. Mol Cell Biol, 19, 4535-45.
  3. Choi JY, Ryu JH, Kim HS, et al (2007). Co-chaperone CHIP promotes aggregation of ataxin-1. Mol Cell Neurosci, 34, 69-79. https://doi.org/10.1016/j.mcn.2006.10.002
  4. Esser C, Scheffner M, Höhfeld J (2005). The chaperoneassociated ubiquitin ligase CHIP is able to target p53 for proteasomal degradation. J Biol Chem, 280, 27443-8. https://doi.org/10.1074/jbc.M501574200
  5. Goryunov D , Liem RK (2007). CHIP-ping away at tau. J Clin Invest, 117, 590-2. https://doi.org/10.1172/JCI31505
  6. Hwang JR, Zhang C, Patterson C (2005). C-terminus of heat shock protein 70-interacting protein facilitates degradation of apoptosis signal-regulating kinase 1 and inhibits apoptosis signal-regulating kinase 1-dependent apoptosis. Cell Stress Chaperones, 10, 147-56. https://doi.org/10.1379/CSC-90R.1
  7. Jang KW, Lee KH, Kim SH, et al (2011). Ubiquitin ligase CHIP induces TRAF2 proteasomal degradation and NF-${\kappa}B$ inactivation to regulate breast cancer cell invasion. J Cell Biochem, 112, 3612-20. https://doi.org/10.1002/jcb.23292
  8. Kataoka HR, Aoki TM (2010). Molecular basis for the development of intracranial aneurysm. Expert Rev Neurother, 10, 173-87. https://doi.org/10.1586/ern.09.155
  9. Kim SC, Singh M, Huang J, et al (1997). Matrix metalloproteinase-9 in cerebral aneurysms. Neurosurgery, 41, 642-66.
  10. Kumar P, Pradhan K, Karunya R (2012). Cross-functional E3 ligases parkin and c-terminus Hsp70-interacting protein in neurodegenerative disorders. J Neurochem, 120, 350-70. https://doi.org/10.1111/j.1471-4159.2011.07588.x
  11. Lindsay ME, Dietz HC (2011). Lessons on the pathogenesis of aneurysm from heritable conditions. Nature, 473, 308-16. https://doi.org/10.1038/nature10145
  12. Meacham GC, Patterson C, Zhang W, Younger JM, Cyr DM (2001). The Hsc70 co-chaperone CHIP targets immature CFTR for proteasomal degradation. Nat Cell Biol, 3, 1005.
  13. Muratoglu SC, Belgrave S, Lillis AP, et al (2011). Macrophage LRP1 suppresses neo-intima formation during vascular remodeling by modulating the TGF-$\beta$ signaling pathway. PLoS One, 6, e28846. https://doi.org/10.1371/journal.pone.0028846
  14. Pannu H, Kim DH, Guo D, et al (2006). The role of mmp-2 and mmp-9 polymorphisms in sporadic intracranial aneurysms. J Neurosurg, 105, 418-23. https://doi.org/10.3171/jns.2006.105.3.418
  15. Peters DG, Kassam A, St Jean PL, Yonas H, Ferrell RE (1999). Functional polymorphism in the matrix metalloproteinase-9 promoter as a potential risk factor for intracranial aneurysm. Stroke, 30, 2612-6. https://doi.org/10.1161/01.STR.30.12.2612
  16. Ruigrok YM, Rinkel GJ, Wijmenga C (2005). Genetics of intracranial aneurysms. Lancet Neurol, 4, 179-89. https://doi.org/10.1016/S1474-4422(05)01015-X
  17. Sun H, Zhang D, Zhao JZ (2007). Chondroitin Sulfate Proteoglycan 2 (CSPG2) gene polymorphisms rs173686 and rs251124 are not associated with intracranial aneurysms in Chinese han nationality. Upsala J Med Sci, 112, 289-95. https://doi.org/10.3109/2000-1967-201
  18. Takenaka K, Sakai H, Yamakawa H, et al (1999). Polymorphism of the endoglin gene in patients with intracranial saccular aneurysms. J Neurosurg, 90, 935-8. https://doi.org/10.3171/jns.1999.90.5.0935
  19. Xin H, Xu X, Li L, et al (2005). CHIP Controls the sensitivity of transforming growth factor-$\beta$ signaling by modulating the basal level of smad3 through ubiquitin-mediated degradation. J Biol Chem, 280, 20842-50. https://doi.org/10.1074/jbc.M412275200
  20. Yasuno K, Bilguvar K , Bijlenga P, et al (2010). Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet, 42, 420-5. https://doi.org/10.1038/ng.563
  21. Zhou P, Fernandes N, Dodge IL, et al (2003). ErbB2 degradation mediated by the co-chaperone protein CHIP. J Biol Chem, 278, 13829-37. https://doi.org/10.1074/jbc.M209640200