Dataset Information

Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).

ABSTRACT: Lower urinary tract obstruction (LUTO) is, in most cases, caused by anatomical blockage of the bladder outlet. The most common form are posterior urethral valves (PUVs), a male-limited phenotype. Here, we surveyed the genome of 155 LUTO patients to identify disease-causing CNVs. Raw intensity data were collected for CNVs detected in LUTO patients and 4.392 healthy controls using CNVPartition, QuantiSNP and PennCNV. Overlapping CNVs between patients and controls were discarded. Additional filtering implicated CNV frequency in the database of genomic variants, gene content and final visual inspection detecting 37 ultra-rare CNVs. After, prioritization qPCR analysis confirmed 3 microduplications, all detected in PUV patients. One microduplication (5q23.2) occurred de novo in the two remaining microduplications found on chromosome 1p36.21 and 10q23.31. Parental DNA was not available for segregation analysis. All three duplications comprised 11 coding genes: four human specific lncRNA and one microRNA. Three coding genes (FBLIM1, SLC16A12, SNCAIP) and the microRNA MIR107 have previously been shown to be expressed in the developing urinary tract of mouse embryos. We propose that duplications, rare or de novo, contribute to PUV formation, a male-limited phenotype.

SUBMITTER: Schierbaum LM

PROVIDER: S-EPMC8468665 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature

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Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).

Schierbaum Luca M LM Schneider Sophia S Herms Stefan S Sivalingam Sugirthan S Fabian Julia J Reutter Heiko H Weber Stefanie S Merz Waltraut M WM Tkaczyk Marcin M Miklaszewska Monika M Sikora Przemyslaw P Szmigielska Agnieszka A Krzemien Grazyna G Zachwieja Katarzyna K Szczepanska Maria M Szczepanska Maria M Taranta-Janusz Katarzyna K Kroll Pawel P Polok Marcin M Zaniew Marcin M Hilger Alina C AC

Genes 20210920 9

Lower urinary tract obstruction (LUTO) is, in most cases, caused by anatomical blockage of the bladder outlet. The most common form are posterior urethral valves (PUVs), a male-limited phenotype. Here, we surveyed the genome of 155 LUTO patients to identify disease-causing CNVs. Raw intensity data were collected for CNVs detected in LUTO patients and 4.392 healthy controls using CNVPartition, QuantiSNP and PennCNV. Overlapping CNVs between patients and controls were discarded. Additional filteri ...[more]

PMID: 34573432

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Project description:AimsMen with lower urinary tract symptoms (LUTS) represent a heterogeneous group, and treatment decisions are often based on severity of symptoms and physical examination findings. Identification of clinically meaningful subtypes could allow for more personalized care. This study advances phenotyping efforts from the Symptoms of Lower Urinary Tract Dysfunction Research Network (LURN) by adding data domains to previous phenotyping using urologic symptoms alone.MethodsTwo-hundred-seventeen LUTS, demographics, medical history, and physical examination datapoints from the LURN Observational Cohort study were assessed among 519 men with at least one bothersome LUTS, using weighted Tanimoto indices, semi-supervised learning, and resampling-based consensus clustering to identify distinct clusters of participants. Differentially abundant serum proteins of 220 men were compared across identified clusters.ResultsFive refined male clusters (RM1-RM5) were identified. Two clusters reported mild LUTS (RM1: n = 66; RM2: n = 84). RM1 was older than RM2 (70.3 vs. 56.1 years), had more comorbidities (functional comorbidity index 2.4 vs. 1.5) and erectile dysfunction. Two benign prostatic hyperplasia-like symptom clusters were identified (RM3: n = 64; RM4: n = 188). RM3 has the largest postvoid residual volume (275 mL); RM4 reported more urinary frequency, urgency, urinary incontinence, pain, and psychosocial symptoms. RM5 (n = 119) was characterized by urgency urinary incontinence, frequency, and significant comorbidities and psychosocial symptoms. Fifteen (RM2) to 87 (RM1) differentially abundant proteins were identified within each cluster. Minimal overlap was observed between affected proteins and pathways across clusters.ConclusionsProtein signatures across newly discovered subgroups suggest identified subtypes are biochemically distinct. Findings should be validated, but may represent populations with separate pathophysiology and therapeutic needs.Clinical trial registrationThe LURN ClinicalTrials.gov Identifier is NCT02485808.

Project description:PurposeLower urinary tract dysfunction in school-aged children is common and yet data are lacking on current teacher practice regarding bathroom use and daytime incontinence during classroom hours. We determined the prevalence of elementary school teachers who promote lower urinary tract health and identified predictors for and against such behavioral promotion.Materials and methodsWe performed an electronic cross-sectional survey among self-identified teachers using targeted social media advertisement during a 1-week period in July 2014. The empirical survey tool consisted of 27 questions and collected data on 5 principal domains, including 1) teacher demographics, 2) rules and regulations on water intake and bathroom use during classroom hours, 3) characteristics of school bathrooms in terms of safety, supervision and suitability for use, 4) experience with and management of students with daytime incontinence and 5) training on the topic of lower urinary tract health. Predictors for promoting lower urinary tract health were identified by multivariable logistic regression.ResultsOf the 4,166 teachers who completed the survey 88% indicated that they encourage students to hold urine. Despite strict bathroom protocols 81% of teachers allowed children unlimited access to water. Of the teachers 82% reported never having undergone any professional development on bathroom regulations for children. Overall only 24% of surveyed teachers met criteria for promoting lower urinary tract health. The odds of promoting lower urinary tract health decreased with ascending grade level (OR 0.80, 95% CI 0.76-0.84). Conversely it increased if teaching experience was greater than 5 years (OR 1.66, 95% CI 1.39-1.98) or professional development on the subject had been received (OR 1.42, 95% CI 1.18-1.70).ConclusionsOf elementary school teachers 76% are not promoting lower urinary tract health in school-aged children. Professional development training on the topics of lower urinary tract dysfunction and/or lower urinary tract health may be beneficial, particularly for educators who teach higher grades and those with less teaching experience.

Dataset Information

Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).

Publications

Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).

Similar Datasets

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