Objective: The objective of this study was to assess significance of insulin receptor substrate (IRS) -1 gene polymorphism (Gly972Arg) at codon 972 in obstructive sleep apnea syndrome (OSAS).
Methods: Using the polymerase chain reaction technique, the codon 972 polymorphism of the IRS-1 gene was analyzed in the DNA obtained from leukocytes of 50 patients and 143 healthy controls.
Results: An overall comparison between the genotypes and allele frequencies of the patients and controls did not reveal any statistically significant difference between the patients and controls (P > .05). Gender-specific comparisons were not significantly different except for a significant difference between the genotypes and allele frequencies of the male patients and male controls (P < .05). The heterozygous, Gly/Arg variant of the IRS-1 gene was overrepresented and the homozygous, Gly/Gly variant was less frequent in male patients compared with male controls. In the patients with OSAS, there was no correlation between the genotypes and polysomnography parameters on correlation analyses (P > .05). There was no relationship between the genotypes and diabetes mellitus (P > .05). Body mass indices and polysomnography parameters of the patients with and without diabetes mellitus were not significantly different (P > .05).
Conclusion: The polymorphism of the IRS-1 gene at codon 972, especially Gly/Arg variant, or the presence of the allele for Arg appears to be associated with occurrence of OSAS in male patients, whereas this polymorphism is not related to severity of OSAS.
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http://dx.doi.org/10.1097/01.mlg.0000235933.74319.80 | DOI Listing |
J Vet Res
June 2024
Veterinary Support, 02-972 Warszawa, Poland.
Introduction: Outbreaks of fowl adenovirus (FAdV) infection in chicken flocks in Poland threaten birds' health and lives and are rising in frequency. The risk of these infections in immunocompromised poultry flocks with developed clinical symptoms was analysed through virus detection in broiler chicks and correlation of cases with the birds' immune strength.
Material And Methods: Samples were analysed from four broiler farms with chicks from the same hatchery in Silesia, Poland where feeding regimes were different.
Bioresour Technol
September 2023
Department of Chemical Engineering, National Cheng Kung University, Tainan 70101, Taiwan. Electronic address:
Sophisticated genetic engineering enables microbial hosts to derive high-value aromatics in a green manner. Ferulic acid (FA) is one of the noteworthy aromatics due to its potent pharmacokinetic properties. However, the current approaches to FA biosynthesis still decamp from time- and cost-effectiveness.
View Article and Find Full Text PDFNature
March 2022
UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia, two related neurodegenerative diseases defined by mislocalization of the RNA-binding protein TDP-43. Here we show that TDP-43 depletion induces robust inclusion of a cryptic exon in UNC13A, resulting in nonsense-mediated decay and loss of UNC13A protein. Two common intronic UNC13A polymorphisms strongly associated with amyotrophic lateral sclerosis and frontotemporal dementia risk overlap with TDP-43 binding sites.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
November 2021
Fondo de Desarrollo de Areas Prioritarias (FONDAP) Center for Genome Regulation, Santiago 8370415, Chile;
The Atacama Desert in Chile-hyperarid and with high-ultraviolet irradiance levels-is one of the harshest environments on Earth. Yet, dozens of species grow there, including Atacama-endemic plants. Herein, we establish the Talabre-Lejía transect (TLT) in the Atacama as an unparalleled natural laboratory to study plant adaptation to extreme environmental conditions.
View Article and Find Full Text PDFJ Hered
August 2021
Etalon, Inc, Menlo Park, CA 94025, USA.
Over 30 polymorphisms in the KIT Proto-Oncogene Receptor Tyrosine Kinase (KIT) gene have been implicated in white spotting patterns ranging from small areas to full dermal depigmentation in the horse. We performed a candidate-gene exon sequencing approach on KIT and MITF, 2 known causatives of white spotting patterns, within 2 families of horses of unknown white spotting. Family 1 (Fam1, N = 5) consisted of a Quarter Horse stallion and 4 offspring with white spotting pattern ranging from legs, lower ventral, and head regions with jagged borders, to almost complete white.
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