中国北方汉族大学生TLR4基因多态性与肺功能和体重指数的关联性分析

Relevance analysis on TLR4 polymorphism with lung function and body mass index in Han population from North China

目的:探讨中国北方汉族大学生9q33区域TLR4基因多态性与肥胖及肺功能的关系。方法:采用漱口水提取基因组DNA方法,收集506例中国北方汉族大学生样品,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法,检测TLR4基因rs2149356单核苷酸多态性(SNP)位点基因型。应用拟合优度χ2检验分析基因型分布频率是否符合Hardy-Weinberg平衡定律,应用t检验、χ2检验和数量性状分析分别进行肺功能比较及等位基因和基因型关联性分析。结果:独立样本t检验分析表明,男、女肥胖组和对照组肺活量差异无显著性(P>0.05)。肥胖组和对照组rs2149356位点基因型分布频数均符合Hardy-Weinberg平衡(P>0.05)。等位基因关联分析表明,肥胖组和对照组等位基因A和C的频数分布差异无显著性(P>0.05);基因型关联分析表明,病例组和对照组A/A、C/A和C/C3种基因型的频数分布差异无显著性(P>0.05);不同肺活量组rs2149356位点基因型分布频数均符合Hardy-Weinberg平衡(P>0.05)。结论:肥胖组和对照组肺活量无显著差异,TLR4基因rs2149356位点可能与中国北方汉族肥胖及肺活量无关,但是不能排除该基因其他SNPs位点与肥胖及肺活量有关联。

Objective To investigate the genetic association between TLR4 gene in chromosome 9q33 and obesity and lung function in Han population from North China. Methods Genomic DNA was isolated from the saliva samples. A single nucleotide polymorphism, rs2149356 （TspE I site） present in the TLR4 gene, was detected using PCR-based restriction fragment length polymorphism （PCR-RFLP） analysis among 506 Chinese Han population. The Hardy-Weinberg equilibrium for genotypic distribution was estimated by the goodness-of-fit Z2 test. The analysis of forced vital capacity （FVC） and the frequencies of alleles and genotypes of TLR4 gene and the relationship between allelic frequencies and obesity and lung function were statistically computed. Results The result of t test did not show significant difference of FVC between obesity group and control （P〉0.05）. The result of goodness-of-fit X^2 test showed that the genotypic distributions of rs2149356 were not deviated from HardyWeinberg equilibrium in various groups （P〉0.05）. The relevance analysis on allelic gene showed that there were no significant differences in the distributions of the frequencies of allelic A and allelic C between control and obesity groups （P〉0.05）. The result of X^2 test did not show allelic association and genotypic association for rs2149356 between obesity and FVC （P〉0.05）. The result of goodness-of-fit X^2 test showed that the genotypic distributions of rs2149356 were not deviated from Hardy-Weinberg equilibrium in FVC variant groups （P）0.05）, too. Conclusion rs2149356 locus may not be associated with obesity and lung function, but the correlation between the other SNPs locus at TLR4 gene and obesity and lung function could not be ruled out.