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Genetic Susceptibility in Human Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 June 2026 | Viewed by 878

Special Issue Editor


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Guest Editor
Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Interests: bioinformatics; genetics; genomics; pediatric cancer

Special Issue Information

Dear Colleagues,

Rapid advancements in genomic technologies and bioinformatics have transformed our understanding of genetic susceptibility in human diseases. Genetic variants, combined with environmental factors, critically influence disease onset, progression, and therapeutic outcomes across diverse populations. This Special Issue of International Journal of Molecular Sciences aims to compile cutting-edge research on the genetic mechanisms underlying disease susceptibility, emphasizing their potential to advance precision medicine and public health strategies. We seek original research, comprehensive reviews, and insightful perspectives that deepen our knowledge and drive innovation in this field.

Topics of interest include the following:

  • The identification of genetic variants linked to disease susceptibility;
  • Gene–environment interactions shaping disease risk;
  • Epigenetic mechanisms influencing predisposition;
  • Biomarkers for disease screening, diagnosis, and prognosis;
  • Pharmacogenomics and personalized therapeutic approaches;
  • Polygenic risk scores for clinical risk assessment;
  • Genetic factors in complex diseases (e.g., cancer, cardiovascular, neurodegenerative, autoimmune);
  • Population genetics and diversity in susceptibility;
  • Bioinformatics tools and databases for genetic research;
  • Ethical, legal, and social implications of genetic studies.

This open access Special Issue welcomes contributions that bridge fundamental science, clinical applications, and translational research, fostering the development of novel diagnostics and targeted therapies.

Dr. Xiaowu Gai
Guest Editor

Manuscript Submission Information

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Keywords

  • bioinformatics
  • genomics
  • genetic susceptibility to disease
  • genetic variation
  • gene–environment interactions
  • biomarkers
  • epigenetic mechanisms
  • pharmacogenomics
  • population genetics
  • bioinformatics tools and databases
  • novel diagnostics
  • targeted therapies

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Published Papers (1 paper)

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9 pages, 641 KB  
Brief Report
Real-World Assessment of the Xpert MTB/XDR for Detecting Isoniazid and Second-Line Drug Resistance Among TB Patients
by Andrei Makhon, Sivan Fuchs, Mor Rubinstein, Maya Brodsky, Zeev Dveyrin, Noa Tejman-Yarden and Yelena Losev
Int. J. Mol. Sci. 2026, 27(6), 2597; https://doi.org/10.3390/ijms27062597 - 12 Mar 2026
Viewed by 572
Abstract
Rapid and accurate detection of drug-resistant tuberculosis (DR-TB) is critical for effective treatment and containment. The Xpert® MTB/XDR (GXXDR) assay is designed to detect Mycobacterium tuberculosis complex (MTBC) and resistance to isoniazid and second-line anti-TB drugs directly from clinical specimens. We evaluated [...] Read more.
Rapid and accurate detection of drug-resistant tuberculosis (DR-TB) is critical for effective treatment and containment. The Xpert® MTB/XDR (GXXDR) assay is designed to detect Mycobacterium tuberculosis complex (MTBC) and resistance to isoniazid and second-line anti-TB drugs directly from clinical specimens. We evaluated the clinical performance of GXXDR using 61 MTBC-positive specimens with available phenotypic drug susceptibility testing results. GXXDR results were compared to a phenotypic drug susceptibility test (pDST) and whole-genome sequencing (WGS) to assess sensitivity, specificity, and concordance. Resistance to isoniazid, fluoroquinolones, amikacin, capreomycin, and ethionamide was analyzed. Sensitivity comparisons between GXXDR, WGS, pDST, and manufacturer data were performed using Fisher’s exact and Tango tests. GXXDR demonstrated a high specificity for most drugs and a strong sensitivity for isoniazid (93.8%) and fluoroquinolone (92.3%), consistent with manufacturer reports. In contrast, the sensitivity for amikacin (58.3%), capreomycin (35.7%), and ethionamide (27.3%) was significantly lower than stated by the manufacturer (91.9%, 84.0% and 64.7%, respectively), likely due to resistance mutations outside the assay’s target regions. Sensitivity concordance of GXXDR with WGS was high for all drugs, except ethionamide. The GXXDR assay enables rapid and reliable detection of isoniazid and fluoroquinolone resistance in clinical settings, though sensitivity for certain second-line drugs may be affected by regional genetic diversity. These findings underscore the importance of integrating local epidemiological data to optimize molecular diagnostics for DR-TB. Full article
(This article belongs to the Special Issue Genetic Susceptibility in Human Diseases)
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