Search results for "Association."
showing 10 items of 1723 documents
HLA-A, -B and -DRB1 allele frequencies in Cyrenaica population (Libya) and genetic relationships with other populations.
2011
Abstract The frequencies of HLA-A, HLA-B and HLA-DRB1 alleles in 118 unrelated Libyans from Benghazi (Cyrenaica) were analysed using high resolution typing and compared with other populations. Their relatedness has been tested by correspondence analyses and principal component analysis. The most frequent HLA-A alleles were A ∗ 02:01:01:01 (15.7%), A ∗ 01:01:01:01 (11.4%) and A ∗ 03:01:01:01 (9.3%). For the HLA-B locus, the commonest allele was HLA-B ∗ 50:01:01 (14.4%) followed by B ∗ 51:01:01 (9.8%) and B ∗ 08:01:01 (6.4%). For the HLA-DRB1 locus, the commonest was HLA-DRB1 ∗ 07:01:01:01 (16.9%) followed by DRB1 ∗ 03:01:01:01 (13.6%) and DRB1 ∗ 13:02:01 (9.3%). The most frequent two-locus h…
C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association an…
2010
3 Figures. 2 Tables. The online version of this article contains a data supplement.
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on i…
2021
Abstract BACKGROUND Our genetic code is now readable, writable and hackable. The recent escalation of genome-wide sequencing (GS) applications in population diagnostics will not only enable the assessment of risks of transmitting well-defined monogenic disorders at preconceptional stages (i.e. carrier screening), but also facilitate identification of multifactorial genetic predispositions to sub-lethal pathologies, including those affecting reproductive fitness. Through GS, the acquisition and curation of reproductive-related findings will warrant the expansion of genetic assessment to new areas of genomic prediction of reproductive phenotypes, pharmacogenomics and molecular embryology, fur…
The role of cuticular pheromones in courtship conditioning of Drosophila males
2005
1072-0502 (Print) Comparative Study Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.; Courtship conditioning is an associative learning paradigm in Drosophila melanogaster, wherein male courtship behavior is modified by experience with unreceptive, previously mated females. While the training experience with mated females involves multiple sensory and behavioral interactions, we hypothesized that female cuticular hydrocarbons function as a specific chemosensory conditioned stimulus in this learning paradigm. The effects of training with mated females were determined in courtship tests with either wild-type virgin females as courtship targets, or with…
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma
2014
Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693…
GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWA…
2013
INTRODUCTION: Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incompletely characterized. MATERIAL AND METHODS: In a series of 246 idiopathic central hypogonadism patients, we found three novel (p.V158I, p.V334M, and p.N15TfsX30) and six already known (p.L173R, p.T260M, p.R268C, p.V274D, p.V331M, and p.H20MfsX23) germline variants in the PROKR2 gene. We evaluated the effects of seven missense alterations on two different prokineticin receptor 2 (PROKR2)-dependent pathways: inositol phosphate-Ca(2+) (Gq coupling) a…
Perception of phonemic length and its relation to reading and spelling skills in children with family risk for dyslexia in the first three grades of …
2010
Purpose To examine the ability to discriminate phonemic length and the association of this ability with reading accuracy, reading speed, and spelling accuracy in Finnish children throughout Grades 1–3. Method Reading-disabled (RDFR, n = 35) and typically reading children (TRFR, n = 69) with family risk for dyslexia and typically reading control children (TRC, n = 80) were tested once in each grade of Grades 1–3 using a phonemic length discrimination task. Reading, spelling, IQ, verbal short-term memory, phonological memory, and naming speed were assessed. Results The RDFR group made more errors in phonemic length discrimination than the TRC group in Grades 2 and 3. After taking into accoun…
Centre-embedded structures are a by-product of associative learning and working memory constraints: Evidence from baboons (Papio Papio)
2012
International audience; Influential theories have claimed that the ability for recursion forms the computational core of human language faculty distinguishing our communication system from that of other animals (Hauser, Chomsky, & Fitch, 2002). In the present study, we consider an alternative view on recursion by studying the contribution of associative and working memory processes. After an intensive paired-associate training with visual shapes, we observed that baboons spontaneously ordered their responses in keeping with a recursive, centre-embedded structure. This result suggests that the human ability for recursion might partly if not entirely originate from fundamental processing cons…
Associative and implicit memory performance as a function of cognitive reserve in elderly adults with and without mild cognitive impairment
2016
AbstractThis study aims to analyze implicit and explicit memory performance as a function of cognitive reserve (CR) in a healthy control group (N = 39) and a mild cognitive impairment (MCI) group (N = 37). Both groups were subdivided into high and low cognitive reserve, and were asked to complete an explicit and implicit associative recognition tasks. The results showed that the control group was able to learn both tasks (η2 = .19, p < .0001), and the high CR group fared better (η2 = .06, p < .05). The MCI sample, conversely, was unable to learn the implicit relationship, and showed very little learning on the explicit association task. Participants diagnosed with MCI showed little pl…
The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.
2013
Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, r…