FAM13A基因rs2609255单核苷酸多态性与煤工尘肺相关性

Correlation between single nucleotide polymorphisms of FAM13A gene rs2609255 and coal workers' pneumoconiosis

目的探讨家族序列相似性13A(FAM13A)基因rs2609255位点单核苷酸多态性(SNP)与唐山地区汉族人群中煤工尘肺(CWP)的相关性。方法采用判断抽样方法,以651例CWP壹期患者为CWP组,以629例与CWP组人群具有相似工作环境和粉尘接触史的煤矿工人为对照组。采集2组人群肘静脉血抽提基因组DNA,采用基质辅助激光解吸电离飞行时间质谱技术对FAM13A基因rs2609255位点进行分型,采用Plink 1. 07软件对基因型频率、等位基因频率及遗传模型进行统计分析。结果 CWP组与对照组人群FAM13A基因rs2609255位点的基因型和等位基因频率分布分别比较,差异均无统计学意义(P> 0. 05)。遗传模型分析显示,2组人群rs2609255位点在相加模型、显性模型和隐形模型中的基因型分布比较,差异均无统计学意义(比值比分别为1. 12、1. 08和1. 28,P>0. 05)。结论 FAM13A基因rs2609255位点SNP可能与唐山地区汉族人群CWP发病无关。

Objective To investigate the correlation between single nucleotide polymorphism（ rs2609255） of family with sequence similarity 13 member A（ FAM13 A） gene and coal workers ＇ pneumoconiosis（ CWP） in Han population of Tangshan district. Methods A judgment sampling method was used to select 651 CWP stage Ⅰ cases as CWP group,and 629 coal miners with similar work environment and dust exposure history were selected as control group. The genomic DNA samples were extracted from peripheral blood of subjects. We genotyped rs2609255 loci in these two groups＇ workers by using matrix associated laser desorption/ionization-time of flight mass spectrometry. The genetic model,genotypic and allelic distributions were analyzed by Plink 1. 07 software. Results There was no significant difference in the distribution frequencies of genotype and allele on rs2609255 in FAM13 A between CWP group and control group（ P〉0. 05）. The genetic model test showed that the genotype distributions of rs2609255 in the CWP group and the control group were not statistically significant in additive model,dominant model and recessive model（ the odds ratios were 1. 12,1. 08 and 1. 28 respectively,P〉0. 05）. Conclusion It suggested that the single nucleotide polymorphism of FAM13 A gene rs2609255 loci may not be associated with CWP incidence in Tangshan Han population.