Genotype and Haplotype Analysis With In Silico Prediction of TMPRSS2 Gene in Jordanian Population.

IF 1 4区 生物学 Q4 GENETICS & HEREDITY Annals of Human Genetics Pub Date : 2024-12-27 DOI:10.1111/ahg.12588
Razan Issam Abu-Almfalfal, Yazun Bashir Jarrar, Munir Gharaibeh
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Abstract

Background: The coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly become a global health concern. The entry of the virus into host cells is facilitated by the transmembrane protease serine 2 (TMPRSS2) receptor, and genetic variations in the TMPRSS2 gene may influence disease susceptibility. However, there is a lack of knowledge regarding TMPRSS2 genetic variants and haplotypes in the Jordanian population.

Aims: This study aimed to characterize the genotype and haplotype variations in the TMPRSS2 binding domain with SARS-CoV-2 among Jordanian volunteers.

Methods: The binding domain of TMPRSS2 with SARS-CoV-2 (Exons 9 and 10) was amplified using polymerase chain reaction (PCR) for a random sample of 120 healthy unrelated Jordanian volunteers, followed by Sanger DNA sequencing for the PCR products. The effect of the novel genetic variants on the TMPRSS2 protein structure was predicted using in silico methods.

Results: The results showed significant (p < 0.05, chi-square) allele frequencies for known TMPRSS2 variants, with c.888C > T being the most prevalent among Jordanian volunteers. Novel genetic variants, including c.869A > G and c.923T > A, were also identified, with the latter being the most common novel variant. Haplotype analysis showed that the most prevalent TMPRSS2 haplotype is c.911G/1051A/1052T/1010 + 45C/1011 - 38T/1011 - 52C/1011 - 54A. In silico programs predicted that TMPRSS2 c.923T > A and c.1052T > A variants affect transmembrane proteins and catalytic sites.

Conclusions: This research provides information about the gene structure of the TMPRSS2 binding domain in Jordanians. Some of the identified variants, especially c.923T > A, may influence protein function, warranting further in vitro and in vivo investigations. In addition, further clinical research studies are needed to link the identified TMPRSS2 variants with COVID-19 susceptibility and severity among Jordanians.

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约旦人群TMPRSS2基因的基因型和单倍型分析及计算机预测。
背景:由严重急性呼吸综合征冠状病毒2型(SARS-CoV-2)引起的冠状病毒病2019 (COVID-19)已迅速成为全球关注的健康问题。病毒通过跨膜蛋白酶丝氨酸2 (TMPRSS2)受体进入宿主细胞,而TMPRSS2基因的遗传变异可能影响疾病易感性。然而,关于约旦人群中TMPRSS2基因变异和单倍型的知识缺乏。目的:本研究旨在表征约旦志愿者中TMPRSS2结合域与SARS-CoV-2的基因型和单倍型变异。方法:随机抽取120名约旦健康无亲缘关系志愿者,采用聚合酶链反应(PCR)扩增TMPRSS2与SARS-CoV-2结合结构域(外显子9和10),并对PCR产物进行Sanger DNA测序。利用计算机方法预测了新的遗传变异对TMPRSS2蛋白结构的影响。结果:结果显示显著(p T)在约旦志愿者中最为普遍。新的遗传变异,包括c.869A >g和c.923T > A,也被鉴定出来,后者是最常见的新变异。单倍型分析显示,最常见的TMPRSS2单倍型为c.911G/1051A/1052T/1010 + 45C/1011 - 38T/1011 - 52C/1011 - 54A。计算机程序预测TMPRSS2 c.923T > A和c.1052T > A变异会影响跨膜蛋白和催化位点。结论:本研究提供了约旦人TMPRSS2结合域的基因结构信息。一些已确定的变异,特别是c.923T > A,可能影响蛋白质功能,需要进一步的体外和体内研究。此外,还需要进一步的临床研究来将已确定的TMPRSS2变异与约旦人的COVID-19易感性和严重程度联系起来。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Annals of Human Genetics
Annals of Human Genetics 生物-遗传学
CiteScore
4.20
自引率
0.00%
发文量
34
审稿时长
3 months
期刊介绍: Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.
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