Search results for "polymorphisms"

The relationship between genetic risk variants with brain structure and function in bipolar disorder: A systematic review of genetic-neuroimaging stu…

2017

Genetic-neuroimaging paradigms could provide insights regarding the pathophysiology of bipolar disorder (BD). Nevertheless, findings have been inconsistent across studies. A systematic review of gene-imaging studies involving individuals with BD was conducted across electronic major databases from inception until January 9th, 2017. Forty-four studies met eligibility criteria (N = 2122 BD participants). Twenty-six gene variants were investigated across candidate gene studies and 4 studies used a genome-wide association approach. Replicated evidence (i.e. in >2 studies) suggests that individuals with BD carrying the BDNF Val66Met risk allele could have reduced hippocampal volumes compared …

IL28B and PNPLA3 Polymorphisms Affect Histological Liver Damage in Patients with Non-alcoholic Fatty Liver Disease.

2012

Background & Aims: Genetic background may affect liver damage in patients with non-alcoholic fatty liver disease (NAFLD). The main outcomes of the study were to assess whether IL28B rs12979860 and rs8099917 polymorphisms, together with PNPLA3 rs738409 C>G polymorphism, are associated with lobular inflammation and fibrosis, in NAFLD patients. Methods: One hundred sixty consecutive NAFLD patients were assessed by liver biopsy (Kleiner score); anthropometric, and biochemical and metabolic features were included. IL28B rs12979860 C>T, IL28B rs8099917 G>C, and PNPLA3 rs738409 C>G single nucleotide polymorphisms were tested. Results: Seventy-four (46.2%) patients had IL28B rs12979860 CC polymorph…

STUDY OF FATTY ACIDS PROFILE IN OVINE AND CAPRINE SICILIAN DAIRY BREED AND ASSOCIATION WITH POSSIBLE CANDIDATE GENES

In Sicilia, le razze bovine, ovine e caprine e le produzioni lattiero-casearie rappresentano una risorsa importante per l’economia del settore zootecnico. L’importanza economica del latte ovino e caprino è soprattutto legata per il primo alla sua trasformazione in prodotti lattiero-caseari, per il secondo al possibile utilisso per il consumo fresco. Per entrambe queste specie, il contenuto di grasso e proteine è importante tanto quanto la produzione di latte. L’individuazione dei geni responsabili delle caratteristiche quanti-qualitative del latte dei piccoli ruminanti permetterebbe quindi di aumentare l’efficienza del miglioramento genetico e di considerare nuovi obiettivi di selezione com…

Genetic polymorphism at the CSN1S1 gene in Girgentana dairy goat breed

2013

The aim of this work was to evaluate the variability of the αs1-casein locus in the endangered Girgentana dairy goat breed in order to define genetic improvement and a conservation program for this breed. The study was performed on 200 dairy goats by means of different PCR protocols. The most frequent alleles were A (0.590) and F (0.290) followed by B (0.065) and N (0.047). CSN1S1 E allele was identified with a very low frequency (0.008). The most common genotype was AF (0.365) followed by AA (0.340). The high frequency of the strong genotypes is associated with the production of milk with high fat and protein content and with optimal technological properties. In Girgentana goat breed, the …

Foxp3 and gata3 polymorphisms, vitamin d3 and multiple sclerosis

2021

Background: Regulatory T cells (Tregs) alterations have been implicated in the pathogenesis of Multiple Sclerosis (MS). Recently, a crucial role of the X-Linked Forkhead Box P3 (FoxP3) for the development and the stability of Tregs has emerged, and FOXP3 gene polymorphisms have been associated with the susceptibility to autoimmune diseases. The expression of Foxp3 in Tregs is regulated by the transcription factor GATA binding-protein 3 (GATA3) and vitamin D3. The aim of this retrospective case-control study was to investigate the potential association between FOXP3 and GATA3 genetic variants, Vitamin D3, and MS risk. Methods: We analyzed two polymorphisms in the FOXP3 gene (rs3761547 and rs…

Importance of dispersal and thermal environment for mycorrhizal communities: lessons from Yellowstone National Park

2011

International audience; The relative importance of dispersal and niche restrictions remains a controversial topic in community ecology, especially for microorganisms that are often assumed to be ubiquitous. We investigated the impact of these factors for the community assembly of the root-symbiont arbuscular mycorrhizal fungi (AMF) by sampling roots from geothermal and nonthermal grasslands in Yellowstone National Park (YNP), followed by sequencing and RFLP of AMF ribosomal DNA. With the exception of an apparent generalist RFLP type closely related to Glomus intraradices, a distance-based redundancy analysis indicated that the AMF community composition correlated with soil pH or pH-driven c…

Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients.

2006

Abstract Background: Impaired DNA repair capacity may favorably affect survival in cisplatin/gemcitabine-treated non-small-cell lung cancer (NSCLC) patients. We investigated the association of survival with genetic polymorphisms in X-ray repair cross-complementing group 1 and group 3 (XRCC3), xeroderma pigmentosum group D (XPD), excision repair cross-complementing group 1, ligase IV, ribonucleotide reductase, TP53, cyclooxygenase-2, interleukin-6, peroxisome proliferator-activated receptor γ, epidermal growth factor, methylene-tetra-hydrofolate reductase and methionine synthase. Patients and methods: One hundred and thirty-five stage IV or IIIB (with malignant pleural effusion) NSCLC patien…

Non synonymous nucleotide polymorphisms in human taste receptors and individual taste sensitivity to glutamate

2008

National audience

Role of Cytokine Polymorphisms in the Rhinitis-Asthma Evolution

2014

AAD1. Role of Cytokine Polymorphisms in the Rhinitis-Asthma Evolution G. Santini1, L. Scola1, S. La Piana1, P. Di Gangi1, L. Vaccarino1, M. Bova1, C. R. Balistreri1, D. Lio1, G. Di Lorenzo1 1University of Palermo, Palermo, Italy Background: Several epidemiological studies demonstrate that a timeline from rhinitis to asthma exists, and that rhinitis is a risk factor for asthma. In particular, rhinitis increases the chance of development of asthma by about three times. In addition to environmental factors, genetic factors play an important role in the development of atopic airway diseases. The aim of this study is to analyse the role of cytokine polymorphism in the evolution of rhinitis-asthm…

Type 1 Diabetes and Autoimmune Thyroid Disease—The Genetic Link

2021

Type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) are the most frequent chronic autoimmune diseases worldwide. Several autoimmune endocrine and non-endocrine disorders tend to occur together. T1D and AITD often cluster in individuals and families, seen in the formation of autoimmune polyendocrinopathy (AP). The close relationship between these two diseases is largely explained by sharing a common genetic background. The HLA antigens DQ2 (DQA1*0501-DQB1*0201) and DQ8 (DQA1*0301-DQB1*0302), tightly linked with DR3 and DR4, are the major common genetic predisposition. Moreover, functional single nucleotide polymorphisms (or rare variants) of various genes, such as the cytotoxic T-lym…