Mendonça Belmont Taciana Furtado de, do Ó Kleyton Palmeira, Soares da Silva Andreia, de Melo Vilar Kamila, Silva Medeiros Fernanda, Silva Vasconcelos Luydson Richardson, Mendonça Dos Anjos Ana Claudia, Domingues Hatzlhofer Betânia Lucena, Pitta Maíra Galdino da Rocha, Bezerra Marcos André Cavalcanti, Araújo Aderson da Silva, de Melo Rego Moacyr Jesus Barreto, Moura Patrícia, Cavalcanti Maria do Socorro Mendonça
Programa de Doutorado da Rede Nordeste de Biotecnologia, Recife, Brasil.
Instituto de Ciências Biológicas e Faculdade de Ciências Médicas, Universidade de Pernambuco, Recife, Brasil.
PLoS One. 2016 Sep 7;11(9):e0162297. doi: 10.1371/journal.pone.0162297. eCollection 2016.
Patients with sickle cell anemia (SCA) may present chronic hemolytic anemia, vaso-occlusion and respiratory tract infection (RTI) episodes. Galectin-3 (GAL-3) is a multifunctional protein involved in inflammation, apoptosis, adhesion and resistance to reactive oxygen species. Studies point to a dual role for GAL-3 as both a circulation damage-associated molecular pattern and a cell membrane associated pattern recognition receptor.
To investigate associations between the SNPs of GAL-3 gene (LGALS3) and serum levels with RTI and vaso-occlusive crisis (VOC) in children with SCA.
SNPs +191 and +292 in LGALS3 were studied using the TaqMan real-time PCR system; GAL-3 serum levels were measured by ELISA. The study included 79 children with SCA ranging from 2 to 12 years old.
GAL-3 serum levels were associated with LGALS3 +191 and +292 genotypes (p <0.0001; p = 0.0169, respectively). LGALS3 +191, AA genotype was associated with low and CC with higher levels of GAL-3. For LGALS3 +292, the CC genotype was associated with lower GAL-3 and AA with higher levels. Patients with Frequency of RTI (FRTI) ≥1 presented higher frequency of +191AA (p = 0.0263) and +292AC/CC genotypes (p = 0.0320). SNP +292 was associated with Frequency of VOC (FVOC) (p = 0.0347), whereas no association was shown with SNP +191 and FVOC. However, CA/AC and AA/CC genotypes with lower GAL-3 levels showed a higher frequency in patients with FRTI ≥1 (p = 0.0170; p = 0.0138, respectively). Also, patients with FVOC ≥1 presented association with CA/AC (p = 0.0228). LGALS3 +191 and +292 combined genotypes related to low (p = 0.0263) and intermediate expression (p = 0.0245) were associated with FRTI ≥1. Lower GAL-3 serum levels were associated with FRTI ≥1 (p = 0.0426) and FVOC ≥1 (p = 0.0012).
Variation of GAL-3 serum levels related to SNPs at +191 and +292 may constitute a susceptibility factor for RTI and VOC frequency.
镰状细胞贫血（SCA）患者可能会出现慢性溶血性贫血、血管阻塞和呼吸道感染（RTI）发作。半乳糖凝集素-3（GAL-3）是一种多功能蛋白，参与炎症、凋亡、黏附以及对活性氧的抵抗。研究指出GAL-3具有双重作用，既是循环损伤相关分子模式，也是细胞膜相关模式识别受体。
研究GAL-3基因（LGALS3）单核苷酸多态性（SNP）及血清水平与SCA患儿RTI和血管阻塞性危机（VOC）之间的关联。
采用TaqMan实时荧光定量PCR系统研究LGALS3中的SNP +191和+292；通过酶联免疫吸附测定法（ELISA）检测GAL-3血清水平。该研究纳入了79名年龄在2至12岁的SCA患儿。
GAL-3血清水平与LGALS3 +191和+292基因型相关（分别为p <0.0001；p = 0.0169）。LGALS3 +191的AA基因型与低GAL-3水平相关，CC基因型与高GAL-3水平相关。对于LGALS3 +292，CC基因型与较低的GAL-3水平相关，AA基因型与较高水平相关。呼吸道感染频率（FRTI）≥1的患者中，+191AA基因型（p = 0.0263）和+292AC/CC基因型（p = 0.0320）的频率更高。SNP +292与血管阻塞性危机频率（FVOC）相关（p = 0.0347），而SNP +191与FVOC无关联。然而，GAL-3水平较低的CA/AC和AA/CC基因型在FRTI≥1的患者中频率更高（分别为p = 0.0170；p = 0.0138）。此外，FVOC≥1的患者与CA/AC基因型相关（p = 0.0228）。与低表达（p = 0.0263）和中等表达（p = 0.0245）相关的LGALS3 +191和+292组合基因型与FRTI≥1相关。较低的GAL-3血清水平与FRTI≥1（p = 0.0426）和FVOC≥1（p =
