Department of Medical Pathology, Hospital de Clinicas, Federal University of Paraná, Curitiba, PR, Brazil.
Hum Immunol. 2011 Oct;72(10):912-5. doi: 10.1016/j.humimm.2011.06.016. Epub 2011 Jul 31.
Hepatitis C virus (HCV) has become a major public health issue and is prevalent in most countries. We examined several MASP2 functional polymorphisms in 104 Brazilian patients with moderate and severe chronic hepatitis C using the primers set to amplify the region encoding the first domain (CUB1), a critical region for the formation of functional mannan-binding lectin (MBL)/MBL-associated serine proteases (MASP)-2 complexes, and the fifth domain (CCP2), which is essential for C4 cleavage of the MASP2 gene. We identified five single nucleotide polymorphisms in patients and controls: p. R99Q, p. D120G, p.P126L, p.D371Y, and p.V377A. Our results show that the p.D371Y variant (c.1111 G > T) is associated with susceptibility to HCV infection (p = 0.003, odds ratio = 6.33, 95% confidence interval = 1.85-21.70). Considered as a dominant function for the T allele, this variant is associated with high plasma levels of the MASP-2 in hepatitis C patients (p < 0.001). However, further functional investigations are necessary to understand the degree of involvement between MASP2 and the HCV susceptibility.
丙型肝炎病毒（HCV）已成为一个主要的公共卫生问题，在大多数国家流行。我们使用引物组对 104 名巴西中重度慢性丙型肝炎患者的甘露聚糖结合凝集素（MBL）/MBL 相关丝氨酸蛋白酶（MASP）-2 复合物形成功能所必需的关键区域的第一个结构域（CUB1）和第五结构域（CCP2）进行了几种 MASP2 功能多态性检测，该区域编码。我们在患者和对照组中发现了五个单核苷酸多态性：p.R99Q、p.D120G、p.P126L、p.D371Y 和 p.V377A。我们的结果表明，p.D371Y 变体（c.1111 G > T）与 HCV 感染易感性相关（p = 0.003，优势比 = 6.33，95%置信区间 = 1.85-21.70）。该变体被认为是 T 等位基因的显性功能，与丙型肝炎患者 MASP-2 的高血浆水平相关（p < 0.001）。然而，需要进一步的功能研究来了解 MASP2 与 HCV 易感性之间的关联程度。
