biostudies-literatureKarlsson LSwedish Research CouncilHeart and Lung Foundatione47-e58https://www.ebi.ac.uk/biostudies/studies/S-EPMC11793033biostudies-literatureUnknown231(1)<h4>Background</h4>Tuberculosis (TB) is among the largest infectious causes of death worldwide, and there is a need for a time- and resource-effective diagnostic methods. In this novel and exploratory study, we show the potential of using buccal swabs to collect human DNA and investigate the DNA methylation (DNAm) signatures as a diagnostic tool for TB.<h4>Methods</h4>Buccal swabs were collected from patients with pulmonary TB (n = 7), TB-exposed persons (n = 7), and controls (n = 9) in Sweden. Using Illumina MethylationEPIC array, the DNAm status was determined.<h4>Results</h4>We identified 5644 significant differentially methylated CpG sites between the patients and controls. Performing the analysis on a validation cohort of samples collected in Kenya and Peru (patients, n = 26; exposed,The Journal of infectious diseasesA DNA Methylation Signature From Buccal Swabs to Identify Tuberculosis Infection.PMC11793033202200342018-04246201806132018-02961Diero LTonui RKarlsson LPaues JLerm MEspinoza PMendez-Aranda MUgarte-Gil CSayyab SGustafsson MOhrnberg IMartinez-Enguita DfalseA DNA Methylation Signature From Buccal Swabs to Identify Tuberculosis Infection.<h4>Background</h4>Tuberculosis (TB) is among the largest infectious causes of death worldwide, and there is a need for a time- and resource-effective diagnostic methods. In this novel and exploratory study, we show the potential of using buccal swabs to collect human DNA and investigate the DNA methylation (DNAm) signatures as a diagnostic tool for TB.<h4>Methods</h4>Buccal swabs were collected from patients with pulmonary TB (n = 7), TB-exposed persons (n = 7), and controls (n = 9) in Sweden. Using Illumina MethylationEPIC array, the DNAm status was determined.<h4>Results</h4>We identified 5644 significant differentially methylated CpG sites between the patients and controls. Performing the analysis on a validation cohort of samples collected in Kenya and Peru (patients, n = 26; exposed,2025-01-01T00:00:00Z2025 Feb2025-04-04T07:26:38.487Z2025-04-04T07:26:38.487ZS-EPMC117930333896281710.1093/infdis/jiae333