Bibliografia publikacji pracowników
Państwowej Szkoły Wyższej w Białej Podlaskiej
Baza tworzona przez Bibliotekę Akademii Bialskiej im. Jana Pawła II.
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MOSTOWSKA ADRIANNA Liczba odnalezionych rekordów: 2
Przejście do opcji zmiany formatu | Wyświetl/ukryj etykiety | Wyświetlenie wyników w wersji do druku | Pobranie pliku do edytora | Nowe wyszukiwanie Streszczenie: Background: Hypospadias (HS) is one of the most common congenital malformations. Complications of corrective surgery in HS correlate with patients' opinions on their voiding ability and sexual life as adults. Etiology of HS involves both genetic and environmental factors. GCH1, which belongs to recently identified urothelial genes influencing voiding behavior, encodes rate-limiting enzyme catalyzing the production of tetrahydrobiopterin (BH4). A requirement for BH4, a metabolite structurally related to folic acid and riboflavin, in embryonic development was reported. Objectives: The aim of the present study was to investigate the association of selected polymorphic variants of BH4 pathway genes with hypospadias. Methods: We performed an analysis of 6 SNPs of GCH1, PAH and AGMO-DGKB loci in a group of 166 boys with isolated hypospadias and a properly matched control group. Results: There was no evidence for either allelic or genotypic association with the risk of HS for the tested nucleotide variants (rs12425434, rs7485331, rs17128050, rs8004018, rs17128077, rs2191349). The lack of association with single SNPs was confirmed at the haplotype level. The exhaustive multifactor dimensionality reduction (MDR) analysis revealed no significant interactive effect of polymorphic variants of BH4 pathway genes on HS susceptibility. Conclusions: The presented results did not support an association between SNPs of GCH1 and PAH and the risk of HS.
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Nr opisu: 0000038077 Autorzy: Agnieszka Gaczkowska, Barbara Biedziak, Margareta Budner, Małgorzata Zadurska, Agnieszka Lasota, Kamil K. Hozyasz, Justyna Dąbrowska, Piotr Wójcicki, Anna Szponar-Żurowska, Kacper Żukowski, Paweł P. Jagodziński, Adrianna Mostowska. Tytuł pracy: PAX7 nucleotide variants and the risk of non-syndromic orofacial clefts in the Polish population Tytuł czasopisma: Szczegóły: 2019, Vol. 25, issue 6, p. 1608--1616 e-ISSN: 1601-0825 Charakterystyka formalna: artykuł w czasopiśmie zagranicznym Charakterystyka merytoryczna: artykuł oryginalny naukowy Charakterystyka wg MNiSW: artykuł w czasopiśmie z IF (wykaz MEiN) Język publikacji: ENG Wskaźnik Impact Factor ISI: 2.613 Punktacja ministerstwa: 100.000 Praca recenzowana Słowa kluczowe ang.: craniofacial anomaly ; nsCL/P ; PAX7 ; risk variants Uwaga: Kopia dostępna w Sekcji Bibliometrii. Inne bazy podające opis:
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Scopus
DOI: 10.1111/odi.13139 Streszczenie: Objective The etiology of non-syndromic cleft lip with or without cleft palate (nsCL/P) is multifactorial, heterogeneous, and still not completely understood. The aim of the present study was to examine the associations between common and rare PAX7 nucleotide variants and the risk of this common congenital anomaly in a Polish population. Subjects and methods Eight top nsCL/P-associated PAX7 variants identified in our cleft genome-wide association study (GWAS) were selected for replication analysis in an independent group of patients and controls (n = 247 and n = 445, respectively). In addition, mutation screening of the PAX7 protein-coding region was conducted. Results Analysis of the pooled data from the GWAS and replication study confirmed that common PAX7 nucleotide variants are significantly associated with the increased risk of nsCL/P. The strongest individual variant was rs1339062 (c.586 + 15617T > C) with a p-value = 2.47E-05 (OR = 1.4, 95%CI: 1.20-1.64). Sequencing analysis identified a novel synonymous PAX7 substitution (c.87G > A, p.Val29Val) in a single patient with nsCLP. This transition located in the early exonic position was predicted to disrupt potential splice enhancer elements. Conclusion Our study confirmed that PAX7 is a strong candidate gene for nsCL/P. Nucleotide variants of this gene contribute to the etiology of nsCL/P in the homogenous Polish population.