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转化生长因子-β1基因单核苷酸多态性作为巴基斯坦旁遮普人群中潜在的哮喘易感变异

Single Nucleotide Polymorphisms Of Transforming Growth Factor-Β1 Gene As Potential Asthma Susceptible Variants In Punjabi Population Of Pakistan.

作者信息

Akram Muhammad, Sabar Muhammad Farooq, Bano Iqbal, Ghani Muhammad Usman, Shahid Mariam

机构信息

Centre for Applied Molecular Biology, University of the Punjab, Lahore.

University of Child Health Sciences, Children's Hospital, Lahore.

出版信息

J Ayub Med Coll Abbottabad. 2022 Oct-Dec;34(Suppl 1)(4):S944-S948. doi: 10.55519/JAMC-04-S4-10495.

Abstract

BACKGROUND

Candidate gene approach based on case-control model is a valuable strategy to determined disease related genetic variants. Two single nucleotide polymorphisms rs1800469 and rs2241715 in TGF β1gene have been reported to affect the asthmatic status in different populations. The main focus of this research was to find any relationship between these SNPs and asthma in Pakistani population.

METHODS

Using case-control model, a total of 108 individuals including 52 asthma patients and 56 healthy controls were screened to find asthma susceptibility of variants rs1800469 and rs2241715. These SNPs were genotyped using SNaPshot minisequencing assay followed by capillary electrophoresis using ABI 3130xl genetic analyzer platform. The statistical analysis of genetic data was performed by using SPSS 21, SHEsis online platform and SNPStats online web software.

RESULTS

No association with asthma was seen in allelic model for both SNPs but genotypes analyzed under codominant, dominant, over dominant and recessive models of inheritance revealed that SNP rs2241715 is strongly associated with asthma under genotypic model.

CONCLUSION

rs2241715 was found to be a genetic risk factor for asthma in Pakistani population.

摘要

背景

基于病例对照模型的候选基因方法是确定疾病相关基因变异的一种有价值的策略。据报道,转化生长因子β1基因中的两个单核苷酸多态性rs1800469和rs2241715在不同人群中会影响哮喘状态。本研究的主要重点是在巴基斯坦人群中寻找这些单核苷酸多态性与哮喘之间的关系。

方法

采用病例对照模型,对包括52例哮喘患者和56例健康对照在内的108名个体进行筛查,以确定rs1800469和rs2241715变异的哮喘易感性。使用SNaPshot微测序分析法对这些单核苷酸多态性进行基因分型,然后使用ABI 3130xl遗传分析仪平台进行毛细管电泳。利用SPSS 21、SHEsis在线平台和SNPStats在线网络软件对遗传数据进行统计分析。

结果

在两个单核苷酸多态性的等位基因模型中均未发现与哮喘相关,但在共显性、显性、超显性和隐性遗传模型下分析的基因型显示,在基因型模型下,单核苷酸多态性rs2241715与哮喘密切相关。

结论

在巴基斯坦人群中,rs2241715被发现是哮喘的一个遗传危险因素。

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