NOTCH3 gene polymorphism in Japanese stroke patients

• Project/Area Number: 11670635
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Neurology
• Research Institution: KYOTO Prefectural University of Medicine
• Principal Investigator: MAKINO Masahiro Kyoto Prefectural University of Medicine, Neurology, Assistant, 医学部, 助手 (80271162)
• Co-Investigator(Kenkyū-buntansha): FUKUYAMA Ryuichi Kyoto Prefectural University of Medicine, Neurology, Assistant Professor, 医学部, 講師 (60199271) ; NAKAJIMA Kenji Kyoto Prefectural University of Medicine, Neurology, Professor, 医学部, 教授 (00237265) ; MIZUNO Toshiki Kyoto Prefectural University of Medicine, Neurology, Assistant Professor, 医学部, 助教授 (30264782)
• Project Period (FY): 1999 – 2001
• Project Status: Completed (Fiscal Year 2001)
• Budget Amount: ¥3,200,000 (Direct Cost: ¥3,200,000); Fiscal Year 2001: ¥500,000 (Direct Cost: ¥500,000); Fiscal Year 2000: ¥600,000 (Direct Cost: ¥600,000); Fiscal Year 1999: ¥2,100,000 (Direct Cost: ¥2,100,000)
• Keywords: NOTCH3 / CADASIL / STROKE / CADASIL / Notch3 / vascular dementia / lacunar infarction / Iacunar infarction

Research Abstract

CADASIL is caused by a single mutation of NOTCH3 with substitution of amino acid. We tested a hypothesis that polymorphisms in NOTCH3 might modulate onset age of stroke or incidence of lacunae in sporadic cerebrovascular patients. Subjects were 111 sporadic stroke patients and 23 normal controls. Subtypes of stroke were lacunar infarction (L) (n=59), atherothrombotic infarction (AT) (n=33), and cardioembolic infarction (CE) (n=19). Incidences of T allele at 381 nucleotide of NOTCH3 in stroke patients and normal subjects were 32.6% and 33.3 %, respectively (x=0.01,p=0.92). T allele in each stroke subgroup was 40.7 % in L, 30.3 % in AT,15.8 % in CE, and 32.6 % in N, and these T allele frequencies were not different from control. Incidences of A allele at 684 nucleotide in stroke patients and normal subjects were 8.1 % and 6.5 %, respectively (x=0.13,p=0.72). Incidence of A allele in each stroke subtype did not significantly differ from control. Our results revealed that polymorphisms of NOTCH3 at exon3 and 4 was often detected in Japanese stoke patients as well as normal control, but no association was observed between NOTCH3 polymorphism and sporadic stroke in Japanese patients.

Research Products

• [Publications] T Mizuno: "Lack of association between Notch3 gene polymorphism and cerebrovascular disease in Japanese sporadic stroke patients"Ann New York Acad Sci. 977. 252-257 (2002)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] T Mizuno: "Renin angiotensin system gene polymorphism in Japanese stroke patients."In "Molecular mechanism and epochal therapeutics of ischemic stroke and dementia" edited by Abe K. International Congress Series. 1252. 83-90 (2003)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] T Mizuno, M Makino, Y Fujiwara, K Nakajima: "Lack of association between Notch3 gene polymorphism and cerebrovascular disease in Japanese sporadic stroke patients"Ann New York Acad Sci. vol.977. 252-257 (2002)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] T Mizuno, M Makino, Y Fujiwara J Nagura, K Shiga, K Yoshikawa, K Nakajima, M Nakagawa: "Renin angiotensin system gene polymorphismin Japanese stroke patients."Molecular mechanism and epochal therapeutics of ischemic stroke and dementia (edited by Abe K.) (International Congress Series). 1252. 83-90 (2003)
  • Description: 「研究成果報告書概要(欧文)」より