Search results for " ASSOCIATION"
showing 10 items of 996 documents
Association analysis between gene variants of the tyrosine hydroxylase and the serotonin transporter in borderline personality disorder.
2010
For patients with borderline personality disorder (BPD), we previously reported an independent effect of the catechol-o-methyl-transferase (COMT) low-activity (Met(158)) allele and an interaction with the low-expression allele of the deletion/insertion (short/long or S/L, resp.) polymorphism in the serotonin transporter-linked promoter region (5-HTTLPR). The purpose of the present study was to extend these findings to the tyrosine hydroxylase (TH) Val(81)Met single nucleotide polymorphism (SNP), the 5-HTTLPR S/L polymorphism incorporating the recently described functional A/G SNP within the long allele of the 5-HTTLPR (rs25531) as well as the variable number of tandem repeat (VNTR) polymorp…
Tocilizumab therapy for unresponsive pulmonary arterial hypertension in a patient with Takayasu arteritis
2016
A 46-year-old female Caucasian patient was referred to our unit with upper extremity claudication, dyspnoea [New York Heart Association (NYHA) Class III], and weight loss. On physical examination, ...
OARSI/OMERACT Initiative to Define States of Severity and Indication for Joint Replacement in Hip and Knee Osteoarthritis. An OMERACT 10 Special Inte…
2011
Objective.To define pain and physical function cutpoints that would, coupled with structural severity, define a surrogate measure of “need for joint replacement surgery,” for use as an outcome measure for potential structure-modifying interventions for osteoarthritis (OA).Methods.New scores were developed for pain and physical function in knee and hip OA. A cross-sectional international study in 1909 patients was conducted to define data-driven cutpoints corresponding to the orthopedic surgeons’ indication for joint replacement. A post hoc analysis of 8 randomized clinical trials (1379 patients) evaluated the prevalence and validity of cutpoints, among patients with symptomatic hip/knee OA.…
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
2013
The author manuscript of this article is open access and is freely available online at PubMed Central
Association of ACACB polymorphisms with obesity and diabetes
2011
El pdf del artículo es la versión pre-print.-- et al.
The Mediterranean diet, plasma metabolome, and cardiovascular disease risk.
2020
Abstract Aims To investigate whether metabolic signature composed of multiple plasma metabolites can be used to characterize adherence and metabolic response to the Mediterranean diet and whether such a metabolic signature is associated with cardiovascular disease (CVD) risk. Methods and results Our primary study cohort included 1859 participants from the Spanish PREDIMED trial, and validation cohorts included 6868 participants from the US Nurses’ Health Studies I and II, and Health Professionals Follow-up Study (NHS/HPFS). Adherence to the Mediterranean diet was assessed using a validated Mediterranean Diet Adherence Screener (MEDAS), and plasma metabolome was profiled by liquid chromatogr…
Inspiratory Muscle Training and Functional Electrical Stimulation for Treatment of Heart Failure With Preserved Ejection Fraction: Rationale and Stud…
2016
Heart failure with preserved ejection fraction (HFpEF) has become the most prevalent form of heart failure in developed countries. Regrettably, there is no evidence-based effective therapy for HFpEF. We seek to evaluate whether inspiratory muscle training, functional electrical stimulation, or a combination of both can improve exercise capacity as well as left ventricular diastolic function, biomarker profile, quality of life (QoL), and prognosis in patients with HFpEF. A total of 60 stable symptomatic patients with HFpEF (New York Heart Association class II-III/IV) will be randomized (1:1:1:1) to receive a 12-week program of inspiratory muscle training, functional electrical stimulation, a…
Depression mediates physical activity readiness and physical activity in patients with heart failure.
2021
Aims Although physical activity (PA) and exercise are essential for patients with heart failure (HF), adherence to the recommended guidelines is low. Not much is known about the mediating effect of HF patients mental state with their readiness for PA and reported activity levels. The purpose of this study is to investigate the mediatory effect of depression on PA readiness (physical limitation and psychological readiness) and self-reported PA in patients with HF. Methods and results In this cross-sectional study, 163 New York Heart Association Class I and II HF patients, during their clinic visit, reported on their physical limitation (PAR-Q) and psychological readiness [self-efficacy (ESES…
New susceptibility locus for coronary artery disease on chromosome 3q22.3
2009
We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in three additional genome-wide datasets of coronary artery disease (CAD) and subsequent replication in approximately 25,000 subjects. We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).
Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia
2021
Importance: Uncertainty currently exists about whether the same genetic variants are associated with susceptibility to low myopia (LM) and high myopia (HM) and to myopia and hyperopia. Addressing this question is fundamental to understanding the genetics of refractive error and has clinical relevance for genotype-based prediction of children at risk for HM and for identification of new therapeutic targets. Objective: To assess whether a common set of genetic variants are associated with susceptibility to HM, LM, and hyperopia. Design, Setting, and Participants: This genetic association study assessed unrelated UK Biobank participants 40 to 69 years of age of European and Asian ancestry. Par…