A5058836534- Genetic Associations and Epidemiology
- Pancreatic function and diabetes
- Regulation of Appetite and Obesity
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Genomics and Rare Diseases
- Birth, Development, and Health
- Cancer-related molecular mechanisms research
- Obesity, Physical Activity, Diet
- Genetic and phenotypic traits in livestock
- Diabetes and associated disorders
- Nutritional Studies and Diet
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Metabolism, Diabetes, and Cancer
- Liver Disease Diagnosis and Treatment
- RNA modifications and cancer
- Genetic Mapping and Diversity in Plants and Animals
- Biochemical Analysis and Sensing Techniques
- Diabetes Treatment and Management
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Genomic variations and chromosomal abnormalities
- Receptor Mechanisms and Signaling
- Diet and metabolism studies
Centre National de la Recherche Scientifique
2007-2020
Institut Pasteur de Lille
2007-2020
European Genomic Institute for Diabetes
2019-2020
(Epi)génomique fonctionnelle métabolique et des dysfonctions dans le diabète de type 2 et des maladies associées
2018-2020
Université de Lille
2019-2020
Centre Hospitalier Universitaire de Lille
2020
Inserm
2020
Université Lille Nord de France
2010-2011
Centre de Gestion Scientifique
2010
Centre for Human Genetics
2003
Recently, several Genome Wide Association (GWA) studies in populations of European descent have identified and validated novel single nucleotide polymorphisms (SNPs), highly associated with type 2 diabetes (T2D). Our aims were to validate these markers other non-European populations, then assess their combined effect a large French study comparing T2D normal glucose tolerant (NGT) individuals.In the same population analyzed our previous GWA (3,295 3,595 NGT), strong associations found for...
Prevention of obesity should start as early possible after birth. We aimed to build clinically useful equations estimating the risk later in newborns, a first step towards focused prevention against global epidemic.We analyzed lifetime Northern Finland Birth Cohort 1986 (NFBC1986) (N = 4,032) draw predictive for childhood and adolescent from traditional factors (parental BMI, birth weight, maternal gestational weight gain, behaviour social indicators), genetic score built 39...
Monogenic forms of obesity have been identified in ≤10% severely obese European patients. However, the overall spectrum deleterious variants (point mutations and structural variants) responsible for childhood severe remains elusive. In this study, we genetically screened 225 children from consanguineous Pakistani families through a combination techniques, including an in-house-developed augmented whole-exome sequencing method (CoDE-seq) that enables simultaneous detection copy number...
Abstract Background In adults, the TCF7L2 rs7903146 T allele, commonly associated with type 2 diabetes (T2D), has been also a lower body mass index (BMI) in T2D individuals and smaller waist circumference subjects impaired glucose tolerance. Methods The present association study aimed at analyzing contribution of SNP to smallness for gestational age (SGA) metabolic profiles SGA or appropriate birth weight (AGA). Two groups French Caucasian were selected on data: (birth < 10 th percentile;...
It has recently been suggested that the low-frequency c.136-14_136-13insC variant in high-mobility group A1 (HMGA1) may strongly contribute to insulin resistance and type 2 diabetes risk. In our study, we attempted confirm HMGA1 is a novel locus French Caucasians. The gene was sequenced 368 diabetic case subjects with family history of 372 normoglycemic control without diabetes. None 41 genetic variations identified were associated lack association between confirmed an independent 4,538...
The molecular diagnosis of extreme forms obesity, in which accurate detection both copy number variations (CNVs) and point mutations, is crucial for an optimal care the patients genetic counseling their families. Whole-exome sequencing (WES) has benefited considerably this diagnosis, but its poor ability to detect CNVs remains a major limitation. We aimed develop method (CoDE-seq) enabling mutations one step.CoDE-seq based on augmented WES method, using probes distributed uniformly...
We sequenced coding regions of the cluster differentiation 36 (CD36) gene in 184 French individuals European ancestry presenting simultaneously with type 2 diabetes (T2D), arterial hypertension, dyslipidemia, and coronary heart disease. identified rare missense mutations (p.Pro191Leu/rs143150225 p.Ala252Val/rs147624636) two heterozygous cases. The CD36 mutation carriers had no family history T2D clustering cardio-metabolic complications. While p.Pro191Leu was found 84 from five ethnic groups...
These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 children and 2.9 adults). More so, functional analysis revealed a loss function 6 decreased cAMP-PKA signalling vitro response to α-MSH ACTH, these variants showed complete penetrance obesity/overweight. In addition, affected...
Monogenic forms of obesity have been identified in ≤10% severely obese European patients. However, the overall spectrum deleterious variants (point mutations and structural variants) responsible for childhood severe remains elusive. In this study, we genetically screened 225 children from consanguineous Pakistani families through a combination techniques including an in-house developed augmented whole-exome sequencing (CoDE-seq) enabling simultaneous detection whole exome copy number...
Monogenic forms of obesity have been identified in ≤10% severely obese European patients. However, the overall spectrum deleterious variants (point mutations and structural variants) responsible for childhood severe remains elusive. In this study, we genetically screened 225 children from consanguineous Pakistani families through a combination techniques including an in-house developed augmented whole-exome sequencing (CoDE-seq) enabling simultaneous detection whole exome copy number...