Search results for "nucleotide polymorphisms"

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

2015

Genetic studies of complex traits have become increasingly successful as progress is made in next-generation sequencing. We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B. We used next-generation sequencing to identify single-nucleotide polymorphisms in the exons of these 11 genes in pools of 100 DNA samples of Finnish individuals with developmental dyslexia. Subsequent individual genotyping of those 100 individuals, and additional cases and controls from the Finnish and German populations, validated 92 out of 111 …

Genotyping analysis and 18FDG uptake in breast cancer patients: a preliminary research

2013

Background: Diagnostic imaging plays a relevant role in the care of patients with breast cancer (BC). Positron Emission Tomography (PET) with 18F-fluoro-2-deoxy-D-glucose (FDG) has been widely proven to be a clinical tool suitable for BC detection and staging in which the glucose analog supplies metabolic information about the tumor. A limited number of studies, sometimes controversial, describe possible associations between FDG uptake and single nucleotide polymorphisms (SNPs). For this reason this field has to be explored and clarified. We investigated the association of SNPs in GLUT1, HIF-1a, EPAS1, APEX1, VEGFA and MTHFR genes with the FDG uptake in BC. Methods: In 26 caucasian individu…

The Sicilian cattle breeds in a global context: genome-wide relationship with other worldwide cattle

2015

Genomic technologies, such as high-throughput genotyping based on Single Nucleotide Polymorphism (SNP) arrays, provide background information concerning genome structure in domestic animals. The aims of this study were to cluster animals, to explore the relationships among and within breeds, and to place the Sicilian breeds, Cinisara and Modicana, in a global context. The Illumina Bovine SNP50K v2 BeadChip genotyping data from 144 animals of Sicilian breeds and from other 1,543 animals belonging to 134 domesticated bovid breeds (DRYAD) were used. These breeds arose from 3 domesticated (sub)species: Bos javanicus, B. taurus indicus, and B. t. taurus. Principal Component Analysis (PCA) genera…

Two single nucleotide polymorphisms in the MICA gene and sMICA plasma levels are associated with hepatocellular carcinoma development in an Italian p…

2017

Background & Aims: We investigated the relationships between MICA polymorphisms, sMICA levels and hepatocellular carcinoma (HCC) risk in HCC patients with chronic hepatitis C virus (HCV) infection. Methods.154 HCV-related HCC cases, 93 HCV-related liver cirrhosis (LC) cases and 244 healthy controls were genotyped using KASPTM SNP method. Levels of plasma soluble MICA (sMICA) were measured in 132 HCC, 90 LC patients and in 78 controls. Results. Genotyping of MICA rs2596542 showed that G/G genotype was significantly more frequent in HCC than in controls and in HCC than in LC patients. As for MICA rs2596538 allele C and C/C genotype were significantly more frequent in HCC than in controls …

Liver and Statins: A Critical Appraisal of the Evidence.

2019

Adverse drug reactions (ADRs) represent an important cause of morbidity and mortality worldwide. Statins are a class of drugs whose main adverse effects are drug-induced liver injury (DILI) and myopathy. Some of these may be predictable, due to their pharmacokinetic and pharmacodynamic properties, while others, unfortunately, are idiosyncratic. Genetic factors may also influence patient susceptibility to DILI and myopathy in the case of statins. This review will first discuss the role of statins in cardiovascular disease treatment and prevention and the underlying mechanisms of action. Furthermore, to explore the susceptibility of statin-induced adverse events such as myopathy and hepatoto…

The genome-wide structure of two economically important indigenous Sicilian cattle breeds

2014

Genomic technologies, such as highthroughput genotyping based on SNP arrays, provided background information concerning genome structure in domestic animals. The aim of this work was to investigate the genetic structure, the genome-wide estimates of inbreeding, coancestry, effective population size (Ne), and the patterns of linkage disequilibrium (LD) in 2 economically important Sicilian local cattle breeds, Cinisara (CIN) and Modicana (MOD), using the Illumina Bovine SNP50K v2 BeadChip. To understand the genetic relationship and to place both Sicilian breeds in a global context, genotypes from 134 other domesticated bovid breeds were used. Principal component analysis showed that the Sicil…

One is not enough: On the effects of reference genome for the mapping and subsequent analyses of short-reads.

2020

Mapping of high-throughput sequencing (HTS) reads to a single arbitrary reference genome is a frequently used approach in microbial genomics. However, the choice of a reference may represent a source of errors that may affect subsequent analyses such as the detection of single nucleotide polymorphisms (SNPs) and phylogenetic inference. In this work, we evaluated the effect of reference choice on short-read sequence data from five clinically and epidemiologically relevant bacteria (Klebsiella pneumoniae, Legionella pneumophila, Neisseria gonorrhoeae, Pseudomonas aeruginosa and Serratia marcescens). Publicly available whole-genome assemblies encompassing the genomic diversity of these species…

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…

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

2008

National audience

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…