Objective: To compile and evaluate the heritability and inheritance patterns of lower urinary tract symptoms (LUTS) in adult cohorts.
Methods: Searches of five databases (PubMed, Embase, APA PsycInfo, Global Health, and OVID Medline) commenced on 6 July 2024, resulting in 736 articles retrieved after deduplication. Studies evaluating heritability patterns, gene frequencies, and familial aggregation of symptoms were included for review. Screening and predefined eligibility criteria produced 34 studies for final review. A descriptive analysis of synthesised data was performed, adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The Cochrane Risk of Bias in Non-Randomised Studies of Interventions (ROBINS-I) tool and the Johanna Briggs Institute checklist were used to evaluate these studies.
Results: Ten of the 34 studies (29%) described general LUTS, 14 (41%) described symptoms due to benign prostatic enlargement (BPE), nine (26%) described urinary incontinence (UI; urge UI [UUI], stress UI [SUI] and mixed UI [MUI]), four (12%) described nocturia alone, two (6%) described overactive bladder (OAB), and four (13%) described other specific symptoms (frequency, postvoid residual urine volume). BPE symptoms, UI (MUI and UUI), nocturia alone, and frequency alone were associated with genetic predisposition, whilst OAB and SUI had more modest inheritance.
Conclusion: The pathogenetic and pharmacological mechanisms fundamental to LUTS manifestation are highly heterogeneous. Further work is required to evaluate the inheritance patterns of LUTS more extensively.
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http://dx.doi.org/10.1111/bju.16517 | DOI Listing |
Actas Dermosifiliogr
January 2025
Servicio de Dermatología, Hospital Infantil Niño Jesús, Av. Menéndez Pelayo 65, 28009 Madrid, España. Electronic address:
Syndromic ichthyoses are a group of disorders whose genetic alterations impact both epidermal and non-epidermal tissues. Therefore, patients present symptoms in other organs. Most are extraordinary and, in some, ichthyosiform desquamation has been poorly described.
View Article and Find Full Text PDFActas Dermosifiliogr
January 2025
Servicio de Dermatología, Hospital Infantil Niño Jesús, Madrid, España. Electronic address:
Ichthyoses are a heterogeneous group of diseases sharing symptoms and a common etiopathogenic mechanism. Clinically, these diseases are characterized by the presence of erythema and variable degrees of skin thickening and desquamation. Although the affected area, severity, and molecular substrate are very variable, they are all signs of a disruption of the barrier formed during epidermal differentiation.
View Article and Find Full Text PDFSci Adv
January 2025
College of Life Science and Technology, Key Laboratory of Molecular Biophysics of the Ministry of Education, Huazhong University of Science and Technology, Wuhan 430074, China.
Clin Chem
January 2025
Division of Maternal-Fetal-Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.
Background: Genetic screening has advanced from prenatal cell-free DNA (cfDNA) screening for aneuploidies (cfDNA-ANP) to single-gene disorders (cfDNA-SGD). Clinical validation studies have been promising in pregnancies with anomalies but are limited in the general population.
Methods: Chart review and laboratory data identified pregnancies with cfDNA-SGD screening for 25 autosomal dominant conditions at our academic center.
Clin Chem
January 2025
Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, United States.
Background: Polygenic risk scores (PRS) are measures of genetic susceptibility to human health traits. With the advent of large data repositories combining genetic data and phenotypic information, PRS are providing valuable insights into the genetic architecture of complex diseases and are transforming the landscape of precision medicine.
Content: PRS have emerged as tools with clinical utility in human disease.
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