Gerardino L, Papaleo P, Flex A, Gaetani E, Fioroni G, Pola P, Pola R
Laboratory of Vascular Biology and Genetics, Department of Medicine, A. Gemelli University Hospital, L.go A. Gemelli 8, Rome 00168, Italy.
Neurol Res. 2006 Dec;28(8):807-9. doi: 10.1179/016164106X110454.
Blood coagulation factor XIII (FXIII) plays a role in inflammatory processes and a pathogenetic role of inflammation in neurodegenerative disorders has been proposed. FXIIIa subunit was immunohistochemically detected in a subpopulation of reactive microglia in Alzheimer's disease (AD). Aim of the present study is to evaluate whether a common polymorphism of the FXIII gene is associated with sporadic AD. We examined 90 patients affected by sporadic AD and 139 age- and sex-matched controls to assess the distribution of V/L alleles and genotypes of the FXIIIa-subunit gene. The LL genotype showed a significantly higher frequency in AD patients (p<0.05) with a significantly increased risk of AD in the presence of LL genotype at the logistic regression analysis [odds ratio: 3.6 (1.36-9.44), p<0.01]. This study shows for the first time an association between FXIII Val34Leu polymorphism and AD.
血液凝固因子 XIII（FXIII）在炎症过程中发挥作用，并且炎症在神经退行性疾病中的发病机制作用也已被提出。在阿尔茨海默病（AD）的反应性小胶质细胞亚群中通过免疫组织化学检测到了 FXIIIa 亚基。本研究的目的是评估 FXIII 基因的一个常见多态性是否与散发性 AD 相关。我们检查了 90 例散发性 AD 患者和 139 例年龄及性别匹配的对照，以评估 FXIIIa 亚基基因的 V/L 等位基因和基因型的分布。LL 基因型在 AD 患者中的频率显著更高（p<0.05），在逻辑回归分析中，存在 LL 基因型时 AD 风险显著增加[比值比：3.6（1.36 - 9.44），p<0.01]。本研究首次表明 FXIII Val34Leu 多态性与 AD 之间存在关联。
