KLKB1基因多态性与肺血栓栓塞症的关联
Association between KLKB1 Polymorphisms and Pulmonary Thromboembolism.
作者信息
Wang Min-Ne, Xu Xiao-Mao, Zhai Zhen-Guo, Sun Liang, Fang Bao-Min, Fei Xiao, Guo Jian
机构信息
Graduate School,CAMS and PUMC,Beijing 100730,China;National Center for Clinical Laboratories,Beijing Hospital,Beijing 100730,China.
Department of Respiratory and Critical Care Medicine,Beijing Hospital,Bejing 100730,China.
出版信息
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2015 Jun;37(3):274-8. doi: 10.3881/j.issn.1000-503X.2015.03.005.
OBJECTIVE
To investigate the potential correlation between the single nucleotide polymorphisms (SNPs) in the KLKB1 region and pulmonary thromboembolism(PTE) in a Chinese Han population.
METHODS
In this case-control study, 95 patients with confirmed PTE were enrolled as the PTE group and 90 healthy subjects as the control group. The genotypes, alleles, and haplotypes of the SNPs were analyzed with PLINK 1.07 and Haploview 4.2 software using chi-square test and Logistic regression analysis. SNPs were further analyzed under three genetic models (additive, dominant, and recessive).
RESULTS
The distribution of rs3733402 in KLKB1 gene showed significant difference between PTE group and control group (P=0.041). The distributions of GTG haplotypes consisted of rs2292423, rs4253325,and rs3733402 in KLKB1 gene were also significantly different between PTE group and control group(P=0.040).
CONCLUSION
The rs3733402 locus variation in KLKB1 gene is associated with PTE in Chinese Han people.
目的
探讨中国汉族人群中KLKB1区域单核苷酸多态性（SNP）与肺血栓栓塞症（PTE）之间的潜在相关性。
方法
在这项病例对照研究中，95例确诊为PTE的患者被纳入PTE组，90名健康受试者作为对照组。使用PLINK 1.07和Haploview 4.2软件，通过卡方检验和逻辑回归分析对SNP的基因型、等位基因和单倍型进行分析。在三种遗传模型（加性、显性和隐性）下进一步分析SNP。
结果
KLKB1基因中rs3733402的分布在PTE组和对照组之间存在显著差异（P = 0.041）。KLKB1基因中由rs2292423、rs4253325和rs3733402组成的GTG单倍型分布在PTE组和对照组之间也存在显著差异（P = 0.040）。
结论
KLKB1基因中的rs3733402位点变异与中国汉族人群的PTE相关。
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