Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1
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- 作者：Hé ; lè ; ne Choqueta ; Eliana Trapanib ; k ; Luca Goitreb ; k ; Lorenza Trabalzinic ; k ; Amy Akersd ; Marco Fontanellae ; k ; Blaine L. Hartf ; Leslie A. Morrisong ; h ; Ludmila Pawlikowskaa ; i ; Helen Kima ; i ; j ; Saverio Francesco Rettab ; k ; francesco.retta@unito.it" class="auth_mail" title="E-mail the corresponding author
- 关键词：CCM ; Cerebral Cavernous Malformation ; CHM ; common hispanic mutation ; ICH ; intracerebral hemorrhage ; CYP ; cytochrome P450 ; MMP ; matrix metalloproteinase ; ROS ; reactive oxygen species ; ECM ; extracellular matrix ; NVU ; neurovascular unit ; BBB ; blood&ndash ; brain barrier ; SNP ; single nucleotide polymorphism ; AA ; arachidonic acid ; PG ; prostaglandins ; LT ; leukotrienes ; EET ; epoxyeicosatrienoic acids ; 24-OHC ; 24(S)-hydroxycholesterol ; 27-OHC ; 27-hydroxycholesterol ; 25-OH-D3 ; 25-hydroxyvitamin D3 ; 1 ; 25-OH
- 刊名：Free Radical Biology and Medicine
- 出版年：2016
- 出版时间：March 2016
- 年：2016
- 卷：92
- 期：Complete
- 页码：100-109
- 全文大小：409 K
文摘
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Inter-individual variability in oxidative stress-related genes may impact CCM1 disease severity.
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CYP4 and CYP8 families were associated with either large lesion or total lesion count, while CYP46 and MMP Stromelysin families were associated with ICH.
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Single SNPs in CYP4F8, CYP4F11, CYP4F12, CYP8A1, CYP19A1, CYP27A1, CYP27B1, CYP46A1 and CYP51A1 genes showed significant associations with at least one disease severity phenotype.
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A single SNP in the MMP3 gene was strongly associated with ICH.
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CYP and MMP SNPs associated with CCM1 disease severity could serve as early objective predictors of disease susceptibility and outcome.