Liu W, Zhang F, Xin Z T, Zhao Q M, Wu X M, Zhang P H, de Vlas S, Richardus J H, Habbema J D F, Yang H, Cao W C
Beijing Institute of Microbiology and Epidemiology, State Key Laboratory of Pathogen and Biosecurity, Beijing, China.
Int J Tuberc Lung Dis. 2006 Oct;10(10):1098-103.
The mannan binding lectin (MBL) gene is thought to play a role in human innate immune response to tuberculosis (TB) infection.
To investigate the possible association between MBL sequence variants and TB infection in the Chinese Han population.
A total of 152 male pulmonary tuberculosis (PTB) patients and 293 healthy male subjects were recruited. Six MBL single nucleotide polymorphisms (SNPs) (A/B, A/C, A/D, H/L, Y/X and P/Q) were genotyped and haplotyped using the combined analysis of polymerase chain reaction using sequence-specific primers (PCR-SSP) and the PCR-sequence specific oligonucleotide probe (PCR-SSOP) assay. The genotype and haplotype frequencies were compared between TB cases and controls using an unconditional logistic regression model.
Neither the genotypes nor the haplotypes of the five loci were significantly associated with the disease when considered individually. After the haplotypes were regrouped, however, the XB haplotype group coding for diminished MBL levels was present at a significantly higher frequency in the patients compared with the YA group (OR 1.57, 95% CI 1.02-2.41, P < 0.05).
No convincing evidence of association between MBL sequence variants and PTB was observed individually, although the low-producing XB haplotype group may serve as a minor risk factor for PTB infection in the male Chinese Han population.
甘露聚糖结合凝集素（MBL）基因被认为在人类对结核病（TB）感染的固有免疫反应中发挥作用。
研究中国汉族人群中MBL序列变异与TB感染之间的可能关联。
共招募了152例男性肺结核（PTB）患者和293名健康男性受试者。使用序列特异性引物聚合酶链反应（PCR - SSP）和PCR - 序列特异性寡核苷酸探针（PCR - SSOP）分析相结合的方法，对6个MBL单核苷酸多态性（SNP）（A/B、A/C、A/D、H/L、Y/X和P/Q）进行基因分型和单倍型分析。使用无条件逻辑回归模型比较TB病例组和对照组之间的基因型和单倍型频率。
单独考虑时，五个位点的基因型和单倍型均与疾病无显著关联。然而，在对单倍型进行重新分组后，编码MBL水平降低的XB单倍型组在患者中的出现频率显著高于YA组（比值比1.57，95%可信区间1.02 - 2.41，P < 0.05）。
虽然低表达的XB单倍型组可能是中国汉族男性人群中PTB感染的一个次要危险因素，但单独观察时未发现MBL序列变异与PTB之间有令人信服的关联证据。
