Association of ORMDL3 single nucleotide polymorphic variants with bronchial asthma in Pathan population

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2024-06-21 DOI:10.1016/j.genrep.2024.101958

Waqas Safir , Saba Altaf , Peerzada Fawad Ullah Jan , Nodia Shujaat , Fahim Ullah Khan , Atia Rehman , Samra Kousar , Muhammad Usman Ghani , Muhammad Farooq Sabar , Mariam Shahid

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Abstract

Background

Single nucleotide polymorphic variants of chromosome 17q21 potential candidate genes have been found to associate with asthma predisposition in many ethnically diverse populations. Identifying the potential SNPs, that are associated with asthma in a certain population, may lead to early diagnosis of genetic predisposition, thus reducing the treatment cost by timely management. This research work was planned to study the association of SNPs residing on chromosome 17q21, with asthma, in the Pathan population of Pakistan.

Methods

Sixty- two physician-diagnosed bronchial asthma cases and one hundred, age and gender-matched, control subjects of the Pathan ethnic group were enrolled for this study. Five SNPs from 17q21 were analyzed for their association with asthma by the Single Base Extension method using capillary-based electrophoresis. Allelic, dominant and recessive genotypic association analyses were done by PLINK and SHEsis plus version beta software, followed by Haploview v4.1 analysis of relevant haplotypes.

Results

Out of five studied SNPs, rs8076131 was significantly associated with bronchial asthma whereas rs9894164 tended to show a marginal association. Haplotype ‘TATT’ seemed to be a marginal risk factor associated with bronchial asthma in the studied population.

Conclusion

rs8076131 may be used as a predictive indicator of Bronchial Asthma development in risk allele carriers of Pathan ethnicity.

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帕坦人群中 ORMDL3 单核苷酸多态性变异与支气管哮喘的关系

背景在许多不同种族的人群中，已发现染色体 17q21 潜在候选基因的单核苷酸多态性变异与哮喘易感性有关。在特定人群中找出与哮喘相关的潜在 SNPs，可能会导致遗传易感性的早期诊断，从而通过及时治疗降低治疗成本。本研究计划对巴基斯坦巴坦族人群中位于 17q21 染色体上的 SNPs 与哮喘的关联性进行研究。方法本研究招募了 62 名医生诊断的支气管哮喘病例和 100 名年龄和性别匹配的巴坦族对照受试者。采用毛细管电泳单碱基扩展法分析了 17q21 中的五个 SNPs 与哮喘的关系。结果在研究的五个 SNPs 中，rs8076131 与支气管哮喘有显著相关性，而 rs9894164 则显示出边缘相关性。在所研究的人群中，单倍型 "TATT "似乎是与支气管哮喘相关的一个边缘风险因素。

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.