Smithson Alex, Perello Rafael, Aibar Jesus, Espinosa Gerard, Tassies Dolors, Freire Carolina, Castro Pedro, Suarez Belen, Lozano Francisco, Nicolas Josep-Maria
Emergency Department, Fundació Hospital de l'Esperit Sant, c/Avinguda Mossen Pons i Rabadà s/n, 08923 Santa Coloma Gramenet, Spain.
Clin Vaccine Immunol. 2010 Mar;17(3):447-53. doi: 10.1128/CVI.00375-09. Epub 2009 Dec 30.
Gene polymorphisms, giving rise to low serum levels of mannose-binding lectin (MBL) or MBL-associated protease 2 (MASP2), have been associated with an increased risk of infections. The objective of this study was to assess the outcome of intensive care unit (ICU) patients with systemic inflammatory response syndrome (SIRS) regarding the existence of functionally relevant MBL2 and MASP2 gene polymorphisms. The study included 243 ICU patients with SIRS admitted to our hospital, as well as 104 healthy control subjects. MBL2 and MASP2 single nucleotide polymorphisms were genotyped using a sequence-based typing technique. No differences were observed regarding the frequencies of low-MBL genotypes (O/O and XA/O) and MASP2 polymorphisms between patients with SIRS and healthy controls. Interestingly, ICU patients with a noninfectious SIRS had a lower frequency for low-MBL genotypes and a higher frequency for high-MBL genotypes (A/A and A/XA) than either ICU patients with an infectious SIRS or healthy controls. The existence of low- or /high-MBL genotypes or a MASP2 polymorphism had no impact on the mortality rates of the included patients. The presence of high-MBL-producing genotypes in patients with a noninfectious insult is a risk factor for SIRS and ICU admission.
基因多态性会导致血清中甘露糖结合凝集素(MBL)或MBL相关蛋白酶2(MASP2)水平降低,这与感染风险增加有关。本研究的目的是评估重症监护病房(ICU)中患有全身炎症反应综合征(SIRS)的患者在功能相关的MBL2和MASP2基因多态性方面的预后情况。该研究纳入了我院收治的243例患有SIRS的ICU患者以及104名健康对照者。采用基于序列的分型技术对MBL2和MASP2单核苷酸多态性进行基因分型。在SIRS患者和健康对照者之间,低MBL基因型(O/O和XA/O)和MASP2多态性的频率未观察到差异。有趣的是,与感染性SIRS的ICU患者或健康对照者相比,非感染性SIRS的ICU患者低MBL基因型的频率较低,而高MBL基因型(A/A和A/XA)的频率较高。低或高MBL基因型或MASP2多态性的存在对纳入患者的死亡率没有影响。非感染性损伤患者中高MBL产生基因型的存在是发生SIRS和入住ICU的一个危险因素。