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哈里普尔乡当地人群伤寒、结核病和霍乱遗传风险分析的综合方法

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

作者信息

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

机构信息

Department of Medical Lab Technology, The University of Haripur (UOH), Haripur, Khyber Pakhtunkhwa, Pakistan.

Department of Medical Lab Technology, The University of Haripur (UOH), Haripur, Khyber Pakhtunkhwa, Pakistan.

出版信息

Infect Genet Evol. 2025 Jul;131:105756. doi: 10.1016/j.meegid.2025.105756. Epub 2025 May 6.

Abstract

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.

摘要

尽管在整个21世纪公共卫生领域取得了显著进展,但结核病、伤寒和霍乱等传染病仍然是全球健康的严重威胁,尤其是在高风险地区。了解影响对这些疾病易感性和抵抗力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病相关的基因变异,重点关注这些疾病最流行的地区。本研究的目的是识别可能影响对结核病、伤寒和霍乱易感性的基因变异。对与结核病、伤寒和霍乱易感性和抵抗力相关的基因变异进行了全面分析。使用来自不同种族群体的公开可用基因数据。计算了优先变异的等位基因频率,以评估它们在不同人群中的分布,包括中东、阿什肯纳兹犹太、欧洲(非芬兰)、拉丁裔/混血美国人、南亚、东亚、欧洲(芬兰)、北亚、东南亚、非裔美国人和瑞典人群。确定了在南亚人群中表现出最高等位基因频率的IL1β基因变异,随后在当地人群中进行了检查。具体而言,对显示最高等位基因频率且与伤寒、结核病和霍乱相关的rs1143627和rs1143629变异进行了详细分析。以确定它们的分布及其对疾病易感性的潜在影响。在当地人群中,对可用样本的统计分析显示,IL1β(rs1143627)的等位基因频率为0.1128%,IL1β(rs1143629)的等位基因频率为0.18%。此外,这些发现表明,某些基因特征可能在人群对结核病、伤寒和霍乱等传染病的总体反应中起作用。这项研究有可能为未来更有效地管理和预防这些疾病的公共卫生策略提供指导。

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