Publications by authors named "Blanche H"

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  • The study investigates the demographic history of France using genotype datasets from individuals in Northern France, revealing significant population structure and differentiation in regions like Brittany and the Loire basin.
  • The research highlights a connection between the ancestry of local populations and genetic variations, particularly indicating a distinction in shared ancestry related to Neolithic and steppe populations.
  • Findings suggest the necessity of studying local demographics to better comprehend the distribution of genetic variants and their role in the prevalence of diseases among populations in Brittany and neighboring areas.
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  • Microsatellite instability (MSI), often linked to mismatch repair deficiency in colorectal cancer (CRC), leads to numerous noncoding DNA mutations, particularly affecting RNA splicing sites.
  • This research shows that these noncoding mutations happen early in tumor development, even before the cancer cells become mutated in their coding regions, and are associated with altered splicing patterns in mRNA.
  • The altered RNA splicing impacts cellular differentiation and promotes the initiation of MSI CRC, indicating that these noncoding changes are significant for cancer progression before traditional coding mutations occur.
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Data on the SARS-CoV-2 infection among primary health care workers (PHCWs) are scarce but essential to reflect on policy regarding prevention and control measures. We assessed the prevalence of PHCWs who have been infected by SARS-CoV-2 in comparison with modeling from the general population in metropolitan France, and associated factors. A cross-sectional study was conducted among general practitioners (GPs), pediatricians, dental and pharmacy workers in primary care between May and August 2021.

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The increasing aging of the human population is currently and for the coming decades a major public health issue in many countries, requiring the implementation of global public health policies promoting healthy and successful aging. Individuals are not equal in the face of aging and some can present exceptional healthspan and/or lifespan, which are notably influenced by both genetic and environmental factors. Research and studies on human aging, healthy aging and longevity should rely in particular on cohorts of long-lived individuals, also including biological samples allowing studies on the biology of aging and longevity.

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Purpose: Bladder cancer is a complex disease with a wide range of outcomes. Clinicopathological factors only partially explain the variability between patients in prognosis and treatment response. There is a need for large cohorts collecting extensive data and biological samples to: (1) investigate gene-environment interactions, pathological/molecular classification and biomarker discovery; and (2) describe treatment patterns, outcomes, resource use and quality of life in a real-world setting.

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Neurofibromatosis type-1 is a genetic disorder caused by loss-of-function variants in the tumor-suppressor NF1. Approximately 4% to 11% of neurofibromatosis type-1 patients have a NF1 locus complete deletion resulting from nonallelic homologous recombination between low copy repeats. Codeleted genes probably account for the more severe phenotype observed in NF1-deleted patients.

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Introduction: Children have been significantly less affected by COVID-19 than adults and presented with milder and less symptomatic forms of the disease. However, there has been suggestion that children older than 10 years and adolescents exhibits features closer to that of young adults. Most studies combine children in different age-groups and lack sufficient numbers to explore in detail age specificities.

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Bladder cancer (BC) is the 6th most common cancer worldwide, with tobacco smoking considered as its main risk factor. Accumulating evidence has found associations between genetic variants and the risk of BC. Candidate gene-environment interaction studies have suggested interactions between cigarette smoking and / gene variants.

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  • - French Polynesia (FP) has a high incidence of differentiated thyroid cancer (DTC), and this study examined the genetic factors contributing to DTC risk in the native population, particularly due to past nuclear tests from 1966-1974.
  • - Researchers analyzed over 300,000 single nucleotide polymorphisms (SNPs) in 283 DTC cases and 418 controls, discovering genetic links associated with DTC at three specific regions on chromosomes 6, 10, and 17, indicating an increased risk.
  • - The findings suggest that these genetic loci could influence DTC risk, but the study recommends further investigation using whole genome sequencing to better understand these factors, as the current methods may not fully capture the
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Background: Taste or smell disorders have been reported as strongly associated with COVID-19 diagnosis. We aimed to identify subject characteristics, symptom associations, and antibody response intensity associated with taste or smell disorders.

Methods: We used data from SAPRIS, a study based on a consortium of five prospective cohorts gathering 279,478 participants in the French general population.

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Importance: Persistent symptoms after SARS-CoV-2 infection are an emerging public health problem. The duration of these symptoms remains poorly documented.

Objective: To describe the temporal dynamics of persistent symptoms after SARS-CoV-2 infection and the factors associated with their resolution.

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Aging is a progressive time-dependent biological process affecting differentially individuals, who can sometimes present exceptional longevity. Epigenetic alterations are one of the hallmarks of aging, which comprise the epigenetic drift and clock at DNA methylation level. In the present study, we estimated the DNA methylation-based age (DNAmage) using four epigenetic clocks based on a small number of CpGs in French centenarians and semi-supercentenarians (CSSC, n=214) as well as nonagenarians' and centenarians' offspring (NCO, n=143) compared to individuals from the French general population (CG, n=149).

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We aimed to investigate the immunoglobulin G response and neutralizing activity against severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) among primary health care workers (PHCW) in France and assess the association between the neutralizing activity and several factors, including the coronavirus disease 2019 (COVID-19) vaccination scheme. A cross-sectional survey was conducted between 10 May 2021 and 31 August 2021. Participants underwent capillary blood sampling and completed a questionnaire.

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Assessment of the intensity, dynamics and determinants of the antibody response after SARS-CoV-2 infection or vaccination in the general population is critical to guide vaccination policies. This study characterized the anti-spike IgG titers in 13,971 participants included in a French multicohort population-based serological survey on COVID-19 between April and October 2020 and followed-up with serological testing between May and October 2021. Eight follow-up profiles were defined depending on SARS-CoV-2 infection (0, 1 or 2) and COVID-19 vaccination (0, 1, 2 or 3).

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Article Synopsis
  • A study was conducted to examine persistent symptoms in patients post-COVID-19 and whether they were linked more to SARS-CoV-2 infection compared to other conditions.
  • The research involved 25,910 participants from a French cohort who reported their symptoms during the pandemic and underwent serological testing to determine COVID-19 infection status.
  • Findings showed that those with confirmed COVID-19 (ECDC+/Sero+) had a significantly higher risk of persistent symptoms like loss of taste/smell and breathlessness, while some other symptoms, like abdominal pain, were less common in this group.
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Lymphoblastoid cell lines (LCLs) derive from blood infected in vitro by Epstein-Barr virus and were used in several genetic, transcriptomic and epigenomic studies. Although few changes were shown between LCL and blood genotypes (SNPs) validating their use in genetics, more were highlighted for other genomic features and/or in their transcriptome and epigenome. This could render them less appropriate for these studies, notably when blood DNA could still be available.

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Background: The interplay between age and symptoms intensity on antibody response to SARS-CoV-2 infection has not been studied in a general population setting.

Methods: We explored the serologic profile of anti-SARS-CoV-2 antibodies after the first wave of the pandemic, by assessing IgG against the spike protein (ELISA-S), IgG against the nucleocapsid protein (ELISA-NP) and neutralizing antibodies (SN) in 82,126 adults from a French population-based multi-cohort study.

Results: ELISA-S positivity was increased in 30- to 49-year-old adults (8.

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Importance: After an infection by SARS-CoV-2, many patients present with persistent physical symptoms that may impair their quality of life. Beliefs regarding the causes of these symptoms may influence their perception and promote maladaptive health behaviors.

Objective: To examine the associations of self-reported COVID-19 infection and SARS-CoV-2 serology test results with persistent physical symptoms (eg, fatigue, breathlessness, or impaired attention) in the general population during the COVID-19 pandemic.

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Background: The protocol study will focus on the seroprevalence of IgG antibodies to SARS-CoV-2 achieved by vaccination and/or natural protection as well as the history, symptoms, and risk factors for SARS-CoV-2 in four primary health-care workers (PHCWs) and their household contacts in metropolitan France.

Methods: Here, we propose a protocol for a nationwide survey to determine the seroprevalence of IgG antibodies to SARS-CoV-2 achieved by vaccination and/or natural protection in four PHCW populations (general practitioners, pediatricians, pharmacists and assistants, and dentists and assistants) and their household contacts. Participants will be included from June to July 2021 (Phase 1) among PHCW populations located throughout metropolitan France.

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Background: We aimed to estimate the seropositivity to anti-SARS-CoV-2 antibodies in May-June 2020 after the first lockdown period in adults living in three regions in France and to identify the associated risk factors.

Methods: Between 4 May 2020 and 23 June 2020, 16 000 participants in a survey on COVID-19 from an existing consortium of three general adult population cohorts living in the Ile-de-France (IDF) or Grand Est (GE) (two regions with high rate of COVID-19) or in the Nouvelle-Aquitaine (NA) (with a low rate) were randomly selected to take a dried-blood spot for anti-SARS-CoV-2 antibodies assessment with three different serological methods (ClinicalTrial Identifier #NCT04392388). The primary outcome was a positive anti-SARS-CoV-2 ELISA IgG result against the spike protein of the virus (ELISA-S).

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Article Synopsis
  • This study compares saliva-based whole-genome sequencing (WGS) to blood-based WGS to assess accuracy and reliability.
  • A novel technique called pseudo-replication was developed to better understand the discrepancies in genotype results between the two methods.
  • The research also characterized individual salivary microbiomes using non-human DNA in saliva, finding that observed discordances mainly occurred in low-confidence genomic regions and aligning with expected results from technical replicates.
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