中国人群中BTNL2基因多态性与结核病易感性研究

摘要/Abstract

摘要： 目的探讨嗜乳脂样蛋白2（BTNL2）基因多态性与中国人群结核病发病的关系。方法在中国人群中进行病例对照研究，用SNaPshot SNP分型技术分析94例结核病样本（病例组）和95例健康对照者（对照组）的7个BTNL2基因单核苷酸多态性（SNP）位点（rs9405098、rs3763317、rs3763313、rs9268494、rs9268492、rs2076523、rs2076530），使用SHEsis软件进行数据处理，进行Hardy-Weinberg遗传平衡检验，计算各组等位基因频率和基因型频率，用χ²检验计算P值比较2组分布频率的差异，并计算各等位基因比值比（OR）及95％可信区间（CI）分析疾病与基因的关联强度，以及BTNL2基因多态性位点连锁不平衡系数（D′值）和单倍体型频率。结果研究显示：（1）所研究的7个多态性位点与结核病的易感性均无显著关联。（2）BTNL2基因的C-A-T-G-C-G单倍体型和C-G-T-G-C-G单倍体型与中国人群结核病发生的易感性显著相关，P值分别为0.007和0.049，其OR值（95%CI）分别为0.39（0.19～0.79）和3.50（0.93～13.18）。结论（1）BTNL2基因多态性单个位点与中国人群结核病的易感性无显著相关。（2） BTNL2基因的单倍体型可能与中国人群结核病发生的易感性相关。

关键词: 结核, 肺/遗传学, 疾病易感性, 膜糖蛋白类, 多态性, 单核苷酸

Abstract: ObjectiveTo investigate the genetic polymorphisms of BTNL2 gene in Chinese, and to study the possible correlation of BTNL2 polymorphism and the susceptibility to tuberculosis. MethodsBlood samples from 94 tuberculosis cases and 95 controls were collected for a case-control study in Chinese. DNAs of the subjects were extracted and amplified by polymerase chain reaction (PCR). The single nucleotide polymorphisms (SNPs) of BTNL2 were determined by SNaPshot SNP genotype techniques. The genotype and haplotype frequencies were compared between tuberculosis cases and controls using SHEsis software. ResultNo correlation was detected between any of the single SNPs locus studied and disease. However, the C-A-T-G-C-G and C-G-T-G-C-G haplotype groups were present a significant correlation with susceptibility to tuberculosis, with the OR (95% CI) to be 0.39 (0.19～0.79) and 3.50 (0.93～13.18) respectively. ConclusionThe single SNP in polymorphisms of BTNL2 gene might not be correlated with the susceptibility to tuberculosis in Chinese. But, the haplotype of BTNL2 gene may be correlated with tuberculosis.

Key words: tuberculosis,pulmonary/genetics, disease susceptibility, membrane glycoproteins, polymorphism,single nucleotide

练媛媛,乐军,韩敏,刘建芳,刘丽蓉. 中国人群中BTNL2基因多态性与结核病易感性研究[J]. 中国防痨杂志, 2009, 31(4): 199-205.

Lian Yuanyuan, Yue Jun, Han Min, Liu Jianfang, Liu Lirong. Study on the relationship between polymorphism of BTNL2 gene and susceptibility of tuberculosis in Chinese population[J]. Chinese Journal of Antituberculosis, 2009, 31(4): 199-205.

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