FAM13A基因多态性与慢性阻塞性肺疾病的关联性研究被引量：2

A association study indentifies FAM13A as a susceptibility gene for COPD

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摘要目的探讨中国广东地区汉族人群FAM13A基因rs7671167位点单核苷酸多态性与cOPD危险度及肺大疱情况的关联性。方法应用DNA直接测序的方法，对246例COPD患者和270例健康对照者的FAM13A基因rs7671167位点基因型进行检测；应用SPSS统计软件对基因型和肺大疱情况进行关联分析。结果①病例组和对照组中rs7671167位点基因型及等位基因频率分布比较差异有统计学意义（x^2=7．182，P〈0．05）；②Logistic回归分析表明：FAM13A基因rs7671167位点不同基因型COPD发生的相对危险度比较，差异有统计学意义（x^2=6．615，P〈0．05），其中T／T基因型的OR值为2．362（95％CI1．253～4．465）。③COPD病例组rs7671167位点基因型与肺大疱的出现情况可能无关。结论在中国广东地区汉族人群中，FAM13A基因与COPD易感性相关。COPD患者肺大疱出现的可能性可能与基因型无关。 Objective To investigate whether polymorphisms of rs7671167 locus in FAM13A gene has any bearing on chronic obstructive pulmonary disease （COPD） and emphysematous bulla in Han population of Guangdong province. Methods The genotypes of rs7671167 locus in 246 COPD patients and 270 healthy controls were tested with PCR-direct sequencing analysis. SPSS software was used to the correlation analysis between genotypes and COPD. Results （1） There was some significant deference between the COPD groups and the controls groups in the frequencies of rs7671167 locus genotypes and alleles （ x^2 = 7. 182, P 〈 0.05）. （2） Logistic regression analysis showed that there was a statistically significant difference in the relative risk of COPD in rs7671167 locus genotypes （ x^2= 6. 615, P 〈0.05）, and the odds ratio （OR） of T/T genotypes was 2. 362 （95% CI 1. 253-4. 465）. （3）The emphysematous bulla might be independent of rs7671167 locus genotypes in COPD groups. Conclusions In Han population of Guangdong province, FAM13A gene might be related with the susceptibility of COPD. Furthermore, the possibility of patients with COPD pulmonary bulla has no association with the genotypes of FAM13A.

作者谢丽莉刘朝晖

机构地区广州医科大学附属广州市第一人民医院呼吸内科

出处《国际呼吸杂志》 2015年第17期1307-1311,共5页 International Journal of Respiration

关键词慢性阻塞性肺疾病 FAM13A 基因多态性肺大疱 Chronic obstructive pulmonary disease FAMlaA Gene polymorphisms Emphysematous bulla

分类号 R563 [医药卫生—呼吸系统]

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