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Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases. 2025 May 6:105756. doi: 10.1016/j.meegid.2025.105756 Q22.62025

An integrated approach for genetic risk profiling of typhoid, tuberculosis, and cholera in local population of tehsil Haripur

哈里普尔地区当地人口的伤寒、结核病和霍乱遗传风险综合评估方法研究 翻译改进

Tahira Sher Afghan  1, Sadiq Noor Khan  2, Faryal Mehwish Awan  3, Ayesha Obaid  1, Rabea Basri  1, Amin Ullah  1, Saira Khan  1, Anam Naz  4, Kamran Ullah  5, Abdul Jabbar  1

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作者单位

  • 1 Department of Medical Lab Technology, The University of Haripur (UOH), Haripur, Khyber Pakhtunkhwa, Pakistan.
  • 2 Department of Medical Lab Technology, The University of Haripur (UOH), Haripur, Khyber Pakhtunkhwa, Pakistan. Electronic address: snkhan@uoh.edu.pk.
  • 3 Department of Medical Lab Technology, The University of Haripur (UOH), Haripur, Khyber Pakhtunkhwa, Pakistan. Electronic address: faryal.mehwish@uoh.edu.pk.
  • 4 Institute of Molecular Biology and Biotechnology (IMBB), The University of Lahore (UOL), Lahore, Pakistan.
  • 5 Department of Biology, The University of Haripur (UOH), Haripur, Khyber Pakhtunkhwa, Pakistan.
  • DOI: 10.1016/j.meegid.2025.105756 PMID: 40339732

    摘要 中英对照阅读

    Despite notable progress in public health throughout the 21st century, infectious diseases like tuberculosis, typhoid, and cholera remain serious threats to global health, particularly in high-risk regions. Understanding the genetic factors that influence susceptibility and resistance to these diseases is essential for developing more effective strategies for their prevention and treatment. This study investigates the genetic variations associated with these infectious diseases with a focus on regions where these diseases are most prevalent. The aim of this study is to identify genetic variants that may influence susceptibility to tuberculosis, typhoid, and cholera. A thorough analysis of genetic variants associated with susceptibility and resistance to tuberculosis, typhoid, and cholera was conducted. Using publicly available genetic data from various ethnic groups. The allele frequency of the prioritized variants was calculated to assess their distribution within the different populations, including Middle Eastern, Ashkenazi Jewish, European (Non-Finnish), Latino/Admixed American, South Asian, East Asian, European (Finnish), North Asian, Southeast Asian, African American, and Swedish populations. The variants of the IL1β gene exhibiting the highest allele frequencies in the South Asian population were identified and subsequently examined within the local population. Specifically, the variants rs1143627 and rs1143629, which demonstrate the highest allele frequencies and are associated with typhoid, tuberculosis, and cholera, were subjected to detailed analysis. To determine their distribution and potential impact on disease susceptibility. In the local population, statistical analysis of the available sample revealed allele frequencies of 0.1128 % for IL1β (rs1143627) and 0.18 % for IL1β (rs1143629). Furthermore, these findings revealed that certain genetic profiles may play a role in the population's overall response to infectious diseases such as tuberculosis, typhoid, and cholera. This research has the potential to guide future public health strategies for more effective management and prevention of these diseases.

    Keywords: Genetic polymorphism; Genetic protection; Genetic susceptibility; Mutations; Population genetics.

    Keywords:genetic risk profiling; infectious diseases; local population

    尽管在21世纪公共卫生方面取得了显著进展,但结核病、伤寒和霍乱等传染病仍然是全球健康的重大威胁,尤其是在高风险地区。了解影响这些疾病易感性和抗性的遗传因素对于制定更有效的预防和治疗策略至关重要。本研究调查了与这些传染性疾病相关的基因变异,并重点关注这些疾病最流行的地区。该研究旨在识别可能影响结核病、伤寒和霍乱易感性的基因变异。对与结核病、伤寒和霍乱的易感性和抗性相关联的遗传变异进行了彻底分析,使用了来自各种族群体的公开可用的遗传数据。计算了优先考虑的变异体在不同人群中的等位基因频率,包括中东人、阿什肯纳兹犹太人、欧洲(非芬兰)、拉美/混血美洲人、南亚人、东亚人、欧洲(芬兰)、北亚人、东南亚人、非裔美国人和瑞典人。识别了在南亚人群中等位基因频率最高的IL1β基因变异体,并在当地人群内进行了进一步检查。具体来说,与伤寒、结核病和霍乱相关联且具有最高等位基因频率的rs1143627和rs1143629变异体接受了详细分析,以确定它们在疾病易感性中的分布及潜在影响。在当地人群中,对可用样本进行统计分析后发现IL1β(rs1143627)等位基因频率为0.1128%,而IL1β(rs1143629)的等位基因频率为0.18%。此外,这些研究结果表明,某些遗传谱型可能在该人群对结核病、伤寒和霍乱等传染病的整体反应中发挥作用。这项研究有可能指导未来的公共卫生策略,以更有效地管理和预防这些疾病。

    关键词:
    遗传多态性;遗传保护;遗传易感性;突变;群体遗传学。


    关键词:基因风险评估; 传染病; 当地人群

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    期刊名:Infection genetics and evolution

    缩写:INFECT GENET EVOL

    ISSN:1567-1348

    e-ISSN:1567-7257

    IF/分区:2.6/Q2

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