Search results for "Association."

Arachidonate 5-lipoxygenase (ALOX5) gene polymorphism is associated with Alzheimer's disease and body mass index

2016

IF 2.126; International audience; Dementias of old age, in particular Alzheimer's disease (AD), pose a growing threat to the longevity and quality of life of individuals as well as whole societies world-wide. The risk factors are both genetic and environmental (lifestyle) and there is an overlap with similar factors predisposing to cardiovascular diseases (CVD). Using a case control genetic approach, we have identified a SNP (rs10507391) in ALOX5 gene, previously associated with an increased risk of stroke, as a novel genetic risk factor for AD. ALOX5 gene encodes a 5'-lipoxygenase (5'-LO) activating protein (FLAP), a crucial component of the arachidonic acid/leukotriene inflammatory cascad…

Sensory-based food education in early childhood education and care, willingness to choose and eat fruit and vegetables, and the moderating role of ma…

2018

AbstractObjectiveTo investigate the association between sensory-based food education implemented in early childhood education and care (ECEC) centres and children’s willingness to choose and eat vegetables, berries and fruit, and whether the mother’s education level and children’s food neophobia moderate the linkage.DesignThe cross-sectional study involved six ECEC centres that provide sensory-based food education and three reference centres. A snack buffet containing eleven different vegetables, berries and fruit was used to assess children’s willingness to choose and eat the food items. The children’s parents completed the Food Neophobia Scale questionnaire to assess their children’s food…

Imbalance between genomic gain and loss identifies high-risk neuroblastoma patients with worse outcomes

2021

Survival in high-risk neuroblastoma (HR-NB) patients remains poor despite multimodal treatment. We aimed to identify HR-NB patients with worse outcomes by analyzing the genomic instability derived from segmental chromosomal aberrations. We calculated 3 genomic instability indexes for primary tumor SNP array profiles from 127 HR-NB patients: (1) Copy number aberration burden (%gainslength+%losseslength), (2) copy number load (CNL) (%gainslength-%losseslength) and (3) net genomic load (NGL) (%gainsamount-%lossesamount). Tumors were classified according to positive or negative CNL and NGL genomic subtypes. The impact of the genomic instability indexes on overall survival (OS) was assessed with…

KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern

2019

BACKGROUND: The presence of an early repolarization pattern (ERP) on the surface ECG is associated with risk of ventricular fibrillation and sudden cardiac death. Family studies have shown that ERP is a highly heritable trait, but molecular genetic determinants are unknown. METHODS: To identify genetic susceptibility loci for ERP, we performed a GWAS and meta-analysis in 2,181 cases and 23,641 controls of European ancestry. RESULTS: We identified a genome-wide significant (P < 5 × 10(–8)) locus in the potassium voltage-gated channel subfamily D member 3 (KCND3) gene that was successfully replicated in additional 1,124 cases and 12,510 controls. A subsequent joint meta-analysis of the discov…

Sex and MC1R variants in human pigmentation: Differences in tanning ability and sensitivity to sunlight between sexes

2016

The relationship between Polypharmacy and Trajectories of Cognitive Decline in People with Dementia: a large representative cohort study

2019

Polypharmacy, defined through the number of medications prescribed, has been linked to a range of adverse health outcomes in people with dementia. It is however unclear whether a numerical threshold of concurrently prescribed drugs is a suitable predictor for cognitive decline. We aimed to test associations between polypharmacy and both short-term (six months) and long-term (three years) cognitive trajectories in patients with incident dementia. Using data from a large mental health and dementia care database in South London, a cohort of 12,148 patients (mean age = 80.7 years, 61.1% female, mean MMSE = 18.6) clinically diagnosed with dementia was identified. We determined the number of medi…

A healthy Nordic diet and physical performance in old age : findings from the longitudinal Helsinki Birth Cohort Study

2016

AbstractEpidemiological studies have shown that a number of nutrients are associated with better physical performance. However, little is still known about the role of the whole diet, particularly a healthy Nordic diet, in relation to physical performance. Therefore, we examined whether a healthy Nordic diet was associated with measures of physical performance 10 years later. We studied 1072 participants from the Helsinki Birth Cohort Study. Participants’ diet was assessed using a validated 128-item FFQ at the mean age of 61 years, and a priori-defined Nordic diet score (NDS) was calculated. The score included Nordic fruits and berries, vegetables, cereals, PUFA:SFA and trans-fatty acids ra…

Explicit and implicit tasks for assessing hedonic-versus nutrition-based attitudes towards food in French children

2015

Attitudes are important precursors of behaviours. This study aims to compare the food attitudes (i.e., hedonic- and nutrition-based) of children using both an implicit pairing task and an explicit forced-choice categorization task suitable for the cognitive abilities of 5- to 11-year-olds. A dominance of hedonically driven attitudes was expected for all ages in the pairing task, designed to elicit affective and spontaneous answers, whereas a progressive emergence of nutrition-based attitudes was expected in the categorization task, designed to involve deliberate analyses of the costs/benefits of foods. An additional exploratory goal was to evaluate differences in the attitudes of normal and…

HLA Class I and II Diversity Contributes to the Etiologic Heterogeneity of Non-Hodgkin Lymphoma Subtypes

2018

Abstract A growing number of loci within the human leukocyte antigen (HLA) region have been implicated in non-Hodgkin lymphoma (NHL) etiology. Here, we test a complementary hypothesis of “heterozygote advantage” regarding the role of HLA and NHL, whereby HLA diversity is beneficial and homozygous HLA loci are associated with increased disease risk. HLA alleles at class I and II loci were imputed from genome-wide association studies (GWAS) using SNP2HLA for 3,617 diffuse large B-cell lymphomas (DLBCL), 2,686 follicular lymphomas (FL), 2,878 chronic lymphocytic leukemia/small lymphocytic lymphomas (CLL/SLL), 741 marginal zone lymphomas (MZL), and 8,753 controls of European descent. Both DLBCL…

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly

2021

International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…