Bayram Nuri, Ozkinay Ferda, Onay Hüseyin, Yilmaz-Ciftdoğan Dilek, Tufan Senem, Vardar Fadil
Division of Pediatric Infectious Diseases, Dr. Behçet Uz Child Diseases and Pediatric Surgery Training and Research Hospital, Izmir, Turkey.
Turk J Pediatr. 2012 May-Jun;54(3):234-8.
Genetic factors are as important as environmental factors in susceptibility to brucellosis. Among these genetic factors, mannose-binding lectin (MBL) deficiency contributes to susceptibility to animal brucellosis. The aim of the study is to determine the influence of codon 54 polymorphisms in the MBL gene on susceptibility to brucellosis. Forty-three patients diagnosed with brucellosis and 106 healthy children were admitted in the study. In the patient group, 19 (44.2%) subjects had AA, 22 (51.1%) subjects had AB and 2 (4.6%) subjects had BB genotypes for codon 54 polymorphism. Eighty-two (77.4%) of the healthy children had AA genotype, while 24 (22.6%) had AB genotype. Our results revealed that genotype frequencies carrying MBL variant allele at codon 54 among the patients were significantly higher compared to those found in the control group (55.8% and 22.6%, respectively; p = 0.0001, odds ratio [OR] = 4.316, 95% confidence interval [CI]: 2.030-9.177). Our data suggest that children with MBL codon 54 AB or BB genotype are more susceptible to brucellosis.
在布鲁氏菌病易感性方面,遗传因素与环境因素同样重要。在这些遗传因素中,甘露糖结合凝集素(MBL)缺乏会导致动物布鲁氏菌病易感性增加。本研究的目的是确定MBL基因第54位密码子多态性对布鲁氏菌病易感性的影响。43例诊断为布鲁氏菌病的患者和106名健康儿童纳入本研究。在患者组中,19名(44.2%)受试者第54位密码子多态性为AA基因型,22名(51.1%)受试者为AB基因型,2名(4.6%)受试者为BB基因型。82名(77.4%)健康儿童为AA基因型,24名(22.6%)为AB基因型。我们的结果显示,患者中携带第54位密码子MBL变异等位基因的基因型频率显著高于对照组(分别为55.8%和22.6%;p = 0.0001,比值比[OR]=4.316,95%置信区间[CI]:2.030 - 9.177)。我们的数据表明,MBL第54位密码子AB或BB基因型的儿童更容易感染布鲁氏菌病。