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立陶宛哮喘患者蛋白酶体基因多态性评估。

Evaluation of proteasomal gene polymorphisms in Lithuanian patients with asthma.

作者信息

Zemeckiene Zivile, Sitkauskiene Brigita, Gasiuniene Edita, Paramonova Natalija, Tamasauskiene Laura, Vitkauskiene Astra, Sjakste Tatjana, Sakalauskas Raimundas

机构信息

Department of Laboratory Medicine, Medical Academy, Lithuanian University of Health Sciences , Kaunas , Lithuania .

出版信息

J Asthma. 2015 Jun;52(5):447-52. doi: 10.3109/02770903.2014.982761. Epub 2014 Nov 21.

Abstract

OBJECTIVE

To investigate polymorphisms of proteasomal genes PSMA6 (rs1048990 and rs2277460), PSMC6 (rs2295826 and rs2295827) and PSMA3 (rs2348071) in Lithuanian patients with asthma.

METHODS

One-hundred forty-six asthma patients and 150 control subjects were studied. DNA was extracted from peripheral blood samples. Five single nucleotide polymorphisms (SNP's) of the three proteasomal genes were analyzed using allele-specific amplification or the cleaved amplified polymorphic sequence method.

RESULTS

While certain alleles and genotypes of PSMA6 rs2277460 and rs1048990 and PSMA3 rs2348071 SNP's occurred more frequently in asthma patients than in controls, no statistically significant differences in alleles or genotypes of PSMA6, PSMC6 or PSMA3 were observed between asthma patients and control subjects. However, when male and female study subjects were considered separately, we found that the CG genotype of PSMA6 rs1048990 is significantly more frequent in male asthma patients compared to male control subjects.

CONCLUSIONS

We found no significant differences in frequencies of selected five proteasomal gene PSMA6, PSMC6 and PSMA3 SNP's between asthma patients and control subjects overall. Among male subjects, however, the CG PSMA6 rs1048990 genotype was significantly more frequent in asthma patients compared with control subjects.

摘要

目的

研究立陶宛哮喘患者中蛋白酶体基因PSMA6(rs1048990和rs2277460)、PSMC6(rs2295826和rs2295827)和PSMA3(rs2348071)的多态性。

方法

对146例哮喘患者和150例对照者进行研究。从外周血样本中提取DNA。使用等位基因特异性扩增或酶切扩增多态性序列法分析这三个蛋白酶体基因的五个单核苷酸多态性(SNP)。

结果

虽然PSMA6的rs2277460和rs1048990以及PSMA3的rs2348071 SNP的某些等位基因和基因型在哮喘患者中出现的频率高于对照组,但哮喘患者和对照者之间在PSMA6、PSMC6或PSMA3的等位基因或基因型上未观察到统计学显著差异。然而,当分别考虑男性和女性研究对象时,我们发现与男性对照者相比,PSMA6 rs1048990的CG基因型在男性哮喘患者中显著更常见。

结论

总体而言,我们发现哮喘患者和对照者之间所选的五个蛋白酶体基因PSMA6、PSMC6和PSMA3 SNP的频率没有显著差异。然而,在男性受试者中,与对照者相比,哮喘患者中PSMA6 rs1048990的CG基因型显著更常见。

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