Search results for "Genotyping"
showing 10 items of 250 documents
Genotype-driven pharmacokinetic simulations of warfarin levels in Puerto Ricans.
2020
Abstract Objectives The inter-individual variability of warfarin dosing has been linked to genetic polymorphisms. This study was aimed at performing genotype-driven pharmacokinetic (PK) simulations to predict warfarin levels in Puerto Ricans. Methods Analysis of each individual dataset was performed by one-compartmental modeling using WinNonlin®v6.4. The k e of warfarin given a cytochrome P450 2C9 (CYP2C9) genotype ranged from 0.0189 to 0.0075 h−1. K a and V d parameters were taken from literature. Data from 128 subjects were divided into two groups (i.e., wild-types and carriers) and statistical analyses of PK parameters were performed by unpaired t-tests. Results In the carrier group (n=6…
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
2010
PURPOSE. The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease in a cohort of 183 patients with USH. METHODS. DNA from 183 patients with Usher syndrome from the Spanish population was analyzed using a genotyping microarray containing 429 previously identified disease-associated variants in eight USH genes. Mutations detected by the array were confirmed by direct sequencing. Haplotype analysis was also performed in families carrying common Spanish mutations. RESULTS. The genotyping microarray identified 43 different variants, divided into 32 disease causative and 11 probably non-pathologic…
Prevalence and Risk Factors for Anal Human Papillomavirus Infection in Human Immunodeficiency Virus–Positive Men Who Have Sex with Men
2018
A correction has been published:The Journal of Infectious Diseases, Volume 218, Issue 8, 15 October 2018, Page 1350, https://doi.org/10.1093/infdis/jiy315; International audience; Background:We assessed prevalence and risk factors for anal human papillomavirus (HPV) in human immunodeficiency virus (HIV)-positive men who have sex with men (MSM), who are at high-risk of HPV-related anal cancer.Methods:APACHES is a multicentric, prospective study of anal HPV infection and lesions in HIV-positive MSM aged ≥35 years. At baseline, participants underwent anal swabs for HPV and cytology, plus high-resolution anoscopy. High-risk HPV (HR-HPV) was tested by Cobas4800, with genotyping of HR-HPV positiv…
Klotho and vitamin D in multiple sclerosis: an Italian study
2019
Introduction Low vitamin D levels have been recognised as an important risk factor for autoimmune diseases, including multiple sclerosis (MS). MS is a multifactorial disease, the pathogenesis of which contributes both to genetic and environmental factors. Polymorphisms in genes codifying molecules involved in vitamin D homeostasis have been associated with hypovitaminosis D. However, the influence of polymorphisms of Klotho, which codify a protein with a pivotal role in vitamin D metabolism, have never been investigated. The aim of this study was to evaluate the association among genetic variants of Klotho, namely rs1207568 and rs9536314, serum 25(OH)D3 levels, and multiple sclerosis (both …
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
2011
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity and weakness. HSP is a genetically highly heterogeneous condition with at least 46 gene loci identified so far, involving X-linked, autosomal recessive (AR) and autosomal dominant inheritance. For correct diagnosis, molecular testing is essential because clinical parameters by themselves are not reliable to differentiate HSP forms. The purpose of this study was to establish amplicon-based high-throughput genotyping for AR-HSP. A sample of 187 index cases with apparently sporadic or recessive spastic paraplegia were analyzed by applying an array-based amplification stra…
Staphylococcus epidermidis virulences faktori un epidemioloģiskā nozīme
2016
Staphylococcus epidermidis svarīgākais virule nces faktors ir biofilmas veidošana. Lai diferencētu komensālos celmus no kolonizējošiem un invazīviem celmiem, pētījumā tika izmantotas fenotipiskās metodes, nosakot biofilmas veidošanu, antibiogrammu, un molekulārās bioloģijas metodes, nosakot virulences gēnus aap / ica A un mec A. Rezultāti liecina, ka biofilmu veidošana raksturīga klīniskajiem celmiem, statistiski ticami biežāk gēni aap/ica A bija noteikti klīniskajos S.epidermidis celmos, tie vis biežāk bija rezistenti pret meticilīnu (97,8%). S.epidermidis tipēšanai pirmo reizi tika pielietota MLST (multilokusu sekvenču tipēšana) metode. Pētījuma rezultāti ļauj secināt par S.epidermidis ge…
Next-Generation Sequencing (NGS) application to the detection of mutations endowing herbicide resistance
2014
The Next Generation Sequencing (NGS) technologies offer tremendous possibilities for accurate detection of mutations endowing resistance. Yet, their use for this purpose has not emerged in crop protection. We aim at promoting NGS use for herbicide resistance diagnosis. In an exemplary study, we describe a simple procedure for this purpose, useable by virtually any scientist and implementing freely accessible programs for the analysis of NGS data. Three PCR amplicons encompassing seven codons of the ALS gene that are crucial for herbicide resistance were sequenced using non-quantified pools of crude DNA extracts from 40 plants in each of 28 field populations of two species of barnyard-grass:…
Des chercheurs INRAE traquent les mutations de résistance aux herbicides à l’aide du séquençage à très haut débit. Newsletter SPE (Département INRAE …
2021
Les inhibiteurs de l’ALS en échec face à l’ambroisie à feuilles d’armoiseEn France, la résistance aux herbicides inhibiteurs de l’acétolactate-synthase (ALS) émerge chez l’ambroisie. Très utilisés car applicables sur la majorité des grandes cultures, ces produits phytosanitaires généralistes inhibent l’ALS, une enzyme clé des végétaux dans la synthèse d’acides aminés essentiels. Ils constituent la deuxième famille de désherbants la plus employée, et en paient le tribut : la résistance à cette classe d’herbicides a été identifiée dans plus de 160 espèces d’adventices, ou « mauvaises herbes ». Récemment rajoutée à cette liste, l’ambroisie à feuilles d’armoise (Ambrosia artemisiifolia) est une…
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
2013
Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…
Incidence and dynamics of active cytomegalovirus infection in allogeneic stem cell transplant patients according to single nucleotide polymorphisms i…
2014
Single nucleotide polymorphisms (SNPs) in genes involved in the activation or regulation of innate and adaptive immune responses may modulate the susceptibility to and the natural history of certain chronic viral infections. The current study aimed to investigate whether donor and recipient SNPs in the chemokine receptor 5 (rs1800023), monocyte chemoattractant protein 1 (rs13900), interleukin-10 (rs1878672), and Toll-like receptor 9 (rs352140) genes would exert any influence on the rate of incidence and features of CMV DNAemia in the allogeneic stem cell transplantation setting. This was a retrospective observational multicenter study. The cohort consisted of 102 non-consecutive allogeneic …