Publications by authors named "Bouchard Luigi"
Introduction: MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the gene. MODY2 is often confused with type 1 or type 2 diabetes, but despite a slightly elevated blood glucose level, it does not induce long-term vascular complications, nor does it require pharmacological treatment. Genetic testing for the diagnosis of MODY2 is currently reserved for genetic specialists and some physicians.
View Article and Find Full Text PDFBackground And Aims: Familial chylomicronemia syndrome (FCS) and multifactorial chylomicronemia syndrome (MCS) are the two main causes of severe hypertriglyceridemia (sHTG). FCS is a rare autosomal recessive form of sHTG, whereas MCS is mainly polygenic in nature with both common and rare variants accumulating and leading to sHTG. However, 30 to 50% of MCS patients have no identified genetic cause of sHTG.
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- The study aimed to find specific circulating microRNAs in the first trimester of pregnancy that are linked to preeclampsia (PE) and evaluate their predictive power across two different groups of women.
- Researchers analyzed plasma samples from two cohorts and identified 73 microRNAs associated with PE, narrowing down to five that showed promise when tested in the second cohort.
- The inclusion of specific microRNAs, particularly miR-194-5p and miR-1278, improved prediction models for assessing PE risk when combined with traditional risk factors, showing a notable increase in accuracy.
Article Synopsis
- Low maternal vitamin D levels during pregnancy have been linked to various health issues in offspring and may affect DNA methylation, a process that influences gene expression.
- The study examined the relationship between maternal vitamin D insufficiency (defined as less than 75 nmol/L) and DNA methylation patterns in the cord blood of newborns using data from 3738 mother-child pairs across seven cohorts.
- Despite a significant prevalence of vitamin D insufficiency among the mothers (ranging from 44.3% to 78.5%), the research found no significant association between maternal vitamin D levels and DNA methylation at the analyzed sites after adjusting for various factors.
Objective: Gut microbes and microbe-dependent metabolites (eg, tryptophan-kynurenine-serotonin pathway metabolites) have been linked to systemic inflammation, but the microbiota-metabolite-inflammation axis remains uncharacterised in children. Here we investigated whether gut microbiota features and circulating metabolites (both microbe-dependent and non-microbe-dependent metabolites) associated with circulating inflammation markers in children.
Methods: We studied children from the prospective Gen3G birth cohort who had data on untargeted plasma metabolome (n=321 children; Metabolon platform), gut microbiota (n=147; 16S rRNA sequencing), and inflammation markers (plasminogen activator inhibitor-1 (PAI-1), monocyte chemoattractant protein-1, and tumour necrosis factor-α) measured at 5-7 years.
Newborn adiposity is associated with cord blood DNA methylation at IGF1R and KLF7.
Obesity (Silver Spring)
October 2024
Objective: This study aimed to identify whether cord blood DNA methylation at specific loci is associated with neonatal adiposity, a key risk factor for childhood obesity.
Methods: An epigenome-wide association study was conducted using the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study as a discovery sample. Linear regression models adjusted for maternal and offspring covariates and cell counts were used to analyze associations between neonatal adiposity as measured by sum of three skinfold thicknesses and cord blood DNA methylation.
Article Synopsis
- Maternal antenatal depression can negatively affect perinatal outcomes, but prior studies mainly look at later pregnancy symptoms and show inconsistent results.
- This study involved 2,053 participants using the Edinburgh Postnatal Depression Scale to track depressive symptoms across all trimesters, examining their impact on infant growth within the first year.
- Results indicated that higher depressive scores in the first and second trimesters were linked to larger birth weight (macrosomia), while higher scores in the third trimester increased risks for preterm birth and low birth weight, emphasizing the need for depression screening early in pregnancy.
Objective: This study identified metabolite modules associated with adiposity and body fat distribution in childhood using gold-standard measurements.
Methods: We used cross-sectional data from 329 children at mid-childhood (age 5.3 ± 0.
Article Synopsis
- * This study aimed to identify specific microRNAs (miRNAs) in early pregnancy that correlate with blood glucose levels later, using data from 444 women and confirming findings in another 106.
- * Researchers found 18 miRNAs linked to fasting blood glucose levels at 26 weeks, providing insights into glucose regulation mechanisms in pregnancy that could help understand gestational diabetes better.
Article Synopsis
- * Patients exhibit a range of symptoms, including neurological, hematological, and gastrointestinal issues, due to the lack of certain lipoproteins.
- * The report highlights four cases from a specific French-Canadian population, showing a higher-than-expected prevalence of a particular MTTP mutation, recommending early diagnosis and potential screening in the community.
Worldwide trends to delay childbearing have increased parental ages at birth. Older parental age may harm offspring health, but mechanisms remain unclear. Alterations in offspring DNA methylation (DNAm) patterns could play a role as aging has been associated with methylation changes in gametes of older individuals.
View Article and Find Full Text PDFReduced insulin sensitivity (insulin resistance) is a hallmark of normal physiology in late pregnancy and also underlies gestational diabetes mellitus (GDM). We conducted transcriptomic profiling of 434 human placentas and identified a positive association between insulin-like growth factor binding protein 1 gene (IGFBP1) expression in the placenta and insulin sensitivity at ~26 weeks gestation. Circulating IGFBP1 protein levels rose over the course of pregnancy and declined postpartum, which, together with high gene expression levels in our placenta samples, suggests a placental or decidual source.
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- * Researchers assessed 114 MCS patients using genetic testing and a polygenic risk score, revealing that two-thirds had hyperTG of polygenic origin and those with pathogenic variants (PVs) in triglyceride metabolism genes were at a higher risk for extreme triglyceride levels and pancreatitis.
- * The findings indicate that MCS patients with both a high triglyceride polygenic risk score and PVs have a significantly greater risk of pancreatitis, suggesting that understanding genetic
Background: Multifactorial chylomicronemia syndrome (MCS) is a severe form of hypertriglyceridemia associated with an increased risk of acute pancreatitis (AP). The risk of AP is heterogenous and is associated with increased level of triglycerides (TG) and presence of rare variants in TG metabolism-related genes.
Objective: To determine if the accumulation of common variants in pancreatitis susceptibility genes, measured with a weighted polygenic risk score (PRS), is associated with AP in MCS patients.
Background: Higher maternal pre-pregnancy body mass index (BMI) is associated with adverse pregnancy and perinatal outcomes. However, whether these associations are causal remains unclear.
Methods: We explored the relation of maternal pre-/early-pregnancy BMI with 20 pregnancy and perinatal outcomes by integrating evidence from three different approaches (i.
Reduced insulin sensitivity (or greater insulin resistance) is a hallmark of normal physiology in late pregnancy and also underlies gestational diabetes mellitus (GDM) pathophysiology. We conducted transcriptomic profiling of 434 human placentas and identified a strong positive association between insulin-like growth factor binding protein 1 gene () expression in the placenta and insulin sensitivity at ~ 26 weeks' gestation. Circulating IGFBP1 protein levels rose over the course of pregnancy and declined postpartum, which together with high placental gene expression levels, suggests a placental source.
View Article and Find Full Text PDFContext: Elevated body mass index (BMI) in pregnancy is associated with adverse maternal and fetal outcomes. The placental transcriptome may elucidate molecular mechanisms underlying these associations.
Objective: We examined the association of first-trimester maternal BMI with the placental transcriptome in the Gen3G prospective cohort.
Article Synopsis
- A healthy placenta is crucial for both the mother and fetus during pregnancy, and this study uses placental weight as a measure of its growth.
- Genome-wide analyses across the genomes of mothers, fathers, and fetuses identified 40 genetic signals related to placental weight, revealing a mix of influences from both parents and the fetus.
- The findings suggest that higher placental weight, driven by fetal genetics, is linked to an increased risk of preeclampsia and shorter pregnancy duration, highlighting the role of fetal insulin in regulating placental growth.
Article Synopsis
- Seasonal variations at birth can influence DNA methylation, which may affect health outcomes over a person’s lifetime.
- A study involving multiple cohorts discovered specific DNA methylation patterns linked to different birth seasons, revealing 26 differentially methylated regions (DMRs) at birth and 32 in childhood.
- Results suggested that geographic latitude plays a role in these associations, linking certain genes to conditions like schizophrenia and asthma, particularly in infants born in higher latitudes (≥50°N).
In rheumatoid arthritis (RA), only a subset of patients develop irreversible bone destruction. Our aim was to identify a microRNA (miR)-based osteoclast-related signature predictive of erosiveness in RA. Seventy-six adults with erosive (E) or nonerosive (NE) seropositive RA and 43 sex- and age-matched healthy controls were recruited.
View Article and Find Full Text PDFBackground: In utero exposure to maternal hyperglycemia has been associated with an increased risk for the development of chronic diseases in later life. These predispositions may be programmed by fetal DNA methylation (DNAm) changes that persist postnatally. However, although some studies have associated fetal exposure to gestational hyperglycemia with DNAm variations at birth, and metabolic phenotypes in childhood, no study has yet examined how maternal hyperglycemia during pregnancy may be associated with offspring DNAm from birth to five years of age.
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- The study aimed to explore the link between gestational diabetes mellitus (GDM) exposure and children’s behavior at ages 3 and 5, hypothesizing that maternal hyperglycemia negatively impacts offspring behavior.
- Researchers analyzed data from 548 mother-child pairs, measuring maternal glycemic markers during pregnancy and assessing child behavior using questionnaires at the specified ages.
- Results indicated that GDM exposure correlates with increased externalizing behavior scores in children, with specific maternal glucose levels contributing to these effects, while no link was found for internalizing behaviors.
Background: Maternal pre-pregnancy body mass index (BMI) has been linked to altered gut microbiota in women shortly after delivery and in their offspring in the first few years of life. But little is known about how long these differences persist.
Methods: We followed 180 mothers and children from pregnancy until 5-year postpartum in the Gen3G cohort (Canada, enrolled 2010-2013).
Article Synopsis
- - The study investigates the genetic factors influencing the timing of parturition, finding 22 genetic loci associated with gestational duration from a large sample of almost 200,000 participants.
- - A meta-analysis of preterm delivery cases identified six genetic loci and highlighted similarities between genetic influences on gestational duration and preterm birth.
- - The research reveals that maternal genetics play a significant role in gestational timing, with some variants negatively impacting fetal birth weight, indicating a complex interaction between maternal and fetal genetics.