Objective: Lactose intolerance (LI) may be considered in patients with unspecific gastrointestinal symptoms, but there is no clear consensus on when and how to diagnose the disorder. The -13910 CC genotype is associated with acquired primary lactase deficiency (adult-type hypolactasia; ATH). We aimed to describe the number of tests and test results in the North Denmark Region considering patient age, geographical origin and repeated testing.
Methods: Retrospective evaluation of the polymerase chain reaction-based -13910 genotype tests registered in the clinical laboratory information system (LABKA II) with data linkage to Danish nationwide registers.
Results: Between 18 May 2007 and 31 December 2018, a total of 23,560 individuals were tested. There was a sevenfold increase in the number of tests performed during the study period. About 9.8% of the tests performed in 2018 were repeated testing in the same individuals. Overall, 8.8% of tested individuals were younger than 5 years, 90.7% were of Danish origin and 5.5% originated from outside of Europe. The -13910 CC genotype was identified in 13.3% of all tested individuals, in 16.0% of children younger than 5 years, in 6.8% of Danish individuals and in 90.9% originating from outside of Europe.
Conclusions: In the North Denmark Region, a marked increase in the use of genetic testing for hypolactasia was observed and repeated testing was frequent. Furthermore, the use of the test and the test results were dependent on patient age and geographical origin. Results inform the debate on when and how to use genetic testing in the diagnosing of LI.
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http://dx.doi.org/10.1080/00365521.2020.1800079 | DOI Listing |
Mol Ecol
December 2024
Department of Botany, University of Wyoming, Laramie, Wyoming, USA.
Adaptive radiations are rich laboratories for exploring, testing, and understanding key theories in evolution and ecology because they offer spectacular displays of speciation and ecological adaptation. Particular challenges to the study of adaptive radiation include high levels of species richness, rapid speciation, and gene flow between species. Over the last decade, high-throughput sequencing technologies and access to population genomic data have lessened these challenges by enabling the analysis of samples from many individual organisms at whole-genome scales.
View Article and Find Full Text PDFIJID Reg
March 2025
Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago.
Objectives: To delineate and understand the genetic variations among strains from Trinidad and Tobago associated with gastric diseases.
Methods: One hundred (n = 100) patients who routinely presented with clinical features suggestive of peptic disease were enrolled in the study and underwent gastroscopy procedures. Biopsy specimens were analyzed using serological and molecular methods.
Front Cell Dev Biol
December 2024
Hospital of Stomatology, Jilin University, Changchun, China.
Hereditary dentine disorders are autosomal dominant diseases that affect the development and structure of dentine, leading to various dental abnormalities and influencing the individual's oral health. It is generally classified as dentinogenesis imperfecta (DGI) and dentine dysplasia (DD). Specifically, DGI is characterized by the abnormal formation of dentine, resulting in teeth that are discolored, translucent, and prone to fracture or wear down easily.
View Article and Find Full Text PDFJ Pain Res
December 2024
Committee on Clinical Pharmacology and Pharmacogenomics, University of Chicago, Chicago, IL, USA.
Background: Cancer patients frequently suffer from pain, often managed with opioids. However, undertreated pain remains a significant concern. Opioid effectiveness varies due to genetic differences in how individuals metabolize some of these medications.
View Article and Find Full Text PDFEur Urol Open Sci
January 2025
Department of Urology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Background And Objective: The role of genetic variants in response to systemic therapy in muscle-invasive bladder cancer (MIBC) is still elusive. We assessed variations in genes involved in DNA damage repair (DDR) before and after cisplatin-based neoadjuvant chemotherapy (NAC) and correlation of alteration patterns with DNA damage and response to therapy.
Methods: Matched tissue from 46 patients with MIBC was investigated via Ion Torrent-based next-generation sequencing using a self-designed panel of 30 DDR genes.
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