Leukoaraiosis is associated with genes regulating blood–brain barrier homeostasis in ischaemic stroke patients

作者: I. Fernandez-Cadenas , M. Mendioroz , S. Domingues-Montanari , A. Del Rio-Espinola , P. Delgado

DOI: 10.1111/J.1468-1331.2010.03243.X

关键词:

摘要: Background:  The biologic agents causing leukoaraiosis are unknown. Our aim was to study the genetic basis of leukoaraiosis. Methods:  We analyzed 212 single nucleotide polymorphisms (SNPs) in 142 patients with ischaemic stroke, generating a total 30 104 genotypes. Seventy-nine subjects (55.6%) presented measured by Fazekas scale and 69 (48.6%) ARWMC scale. presence synergic associations between SNPs using hfcc software. Finally, functional studies were performed 56 subjects. Ingenuity Pathways software (ipa) used examine role identified genes. Results:  Six associated both measuring scales. After logistic regression adjusted for risk factors, rs2252070 MMP13 (OR = 4.9, 95%CI: 1.34–17.9, P = 0.016), rs662 PON1 (OR = 0.37, 0.15–0.87, P = 0.024) rs1800779 NOS3 (OR = 3.9, 1.38–11.38, P = 0.01) independently under dominant/recessive model rs2290608 IL5RA (OR = 0.46, 0.25–0.85, P = 0.013) rs669 A2M (OR = 2.5, 1.36–4.83, P = 0.004) an additive model. Computational analysis showed association rs10497212-AA ITGB6 rs2290608-GG (i) (P = 1.3 × 10−4) (ii) (P = 4.5 × 10−5). Functional that SNP plasma levels (P = 0.012) (P = 0.02). ipa revealed genes involved blood–brain barrier (BBB) homeostasis. Conclusions:  Amongst several BBB homeostasis could be higher leukoaraiosis.

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