Éditeur(s) : HAL CCSD WB Saunders
Résumé : International audience
ISSN: 0026-0495

hal-01678987
https://hal.univ-antilles.fr/hal-01678987
DOI : 10.1016/j.metabol.2016.07.004

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
ISSN: 0905-7188

hal-00703464
https://hal.univ-antilles.fr/hal-00703464
DOI : 10.1111/j.1600-0838.2009.00944.x

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Implication of immune processes in bipolar disorder (BD) has recently gained increasing attention. Tolerogenic molecules, among which HLA-G plays a prominent role, mediate the modulation of such processes. The HLA-G locus is characterized by a high number of polymorphisms including a functionally relevant 14 base pair (bp) insertion/deletion (Ins/Del) allele affecting the HLA-G expression. Here, we analyzed the distribution of this polymorphism in 561 BD patients and 161 healthy and found that the HLA-G 14bp Ins/Ins genotype was significantly more prevalent in healthy controls than in patients (corrected p; pc=0.032) and that the prevalence of such protective genotype is lower among patients born during the winter season as compared to those born in other periods (pc=0.006). Possible mechanisms between low HLA G expression and resistance to infections as well as potential relationships between infections in early life and susceptibility to BD are discussed.
ISSN: 0198-8859

inserm-00864639
http://www.hal.inserm.fr/inserm-00864639
http://www.hal.inserm.fr/inserm-00864639/document
http://www.hal.inserm.fr/inserm-00864639/file/HLA-G_and_BD_manuscript_-1.pdf
DOI : 10.1016/j.humimm.2012.11.032

Éditeur(s) : HAL CCSD BMJ Publishing Group
Résumé : International audience
BACKGROUND: Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (ADPD), the most common of which is the p.G2019S substitution that has been found at varying frequencies worldwide. Because of the size of the LRRK2 gene, few studies have analysed the entire gene in large series of ADPD families. METHODS: We performed extensive mutation analyses of all 51 coding exons of the LRRK2 gene in index cases from 226 Parkinson's disease families compatible with autosomal dominant inheritance, mostly from France (n = 182) and North Africa (n = 14). RESULTS: We found 79 sequence variants, 29 of which were novel. Eight potentially or proven pathogenic mutations were found in 22 probands (9.7%). There were four novel amino acid substitutions that are potentially pathogenic (p.S52F, p.N363S, p.I810V, p.R1325Q) and two novel variants, p.H1216R and p.T1410M, that are probably not causative. The common p.G2019S mutation was identified in 13 probands (5.8%) including six from North Africa (43%). The known heterozygous p.R1441H and p.I1371V mutations were found in two probands each, and the p.E334K variant was identified in one single patient. Most potentially or proven pathogenic mutations were located in the functional domains of the Lrrk2 protein. CONCLUSION: This study leads us to conclude that LRRK2 mutations are a common cause of autosomal dominant Parkinson's disease in Europe and North Africa.
ISSN: 0022-2593

inserm-00529272
http://www.hal.inserm.fr/inserm-00529272
DOI : 10.1136/jmg.2008.062612
PUBMED : 19357115

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
Two genome-wide association studies (GWASs) recently highlighted the HLA-DRA and HLA-DRB5 genes as associated with Parkinson disease (PD). However, because HLA-DRA displays a low level of polymorphisms and HLA-DRB5 is only present in approximately 20% of the population, these findings are difficult to interpret. Our aims were: (1) to replicate and investigate in greater detail the association between PD and the HLA-DR region; (2) to identify PD-associated HLA alleles; and (3) to perform a meta-analysis of our top finding. As part of 2 French population-based case-control studies of PD including highly ethnically homogeneous participants, we investigated the association between PD and 51 Single-nucleotide polymorphisms (SNPs) in the HLA-DR region. HLA-DRB1 alleles were imputed using the HLA(*) IMP software. HLA typing was performed in a subsample of the participants. We performed a meta-analysis of our top finding based on 4 GWAS data sets. Among 499 cases and 1123 controls, after correction for multiple testing, we found an association with rs660895 (OR/minor allele, 0.70; 95% CI, 0.57-0.87) within the HLA-DRB1 gene, which encodes the most polymorphic HLA-DR chain (DRβ). A meta-analysis (7996 cases, 36455 controls) confirmed this association (OR, 0.86; 95% CI, 0.82-0.91; P < .0001). SNP-based imputation of HLA alleles showed an inverse association between PD and the HLA-DRB1(*) 04 allele. We replicated an association between PD and the HLA-DR region and provided further insight into the loci and alleles involved. The highly polymorphic HLA-DRB1 locus contains rs660895, which represents a more legitimate candidate than previous ones. Our finding is in agreement with the hypothesis of an immune component in PD pathophysiology. © 2012 Movement Disorder Society.
ISSN: 0885-3185

inserm-00721562
http://www.hal.inserm.fr/inserm-00721562
http://www.hal.inserm.fr/inserm-00721562/document
http://www.hal.inserm.fr/inserm-00721562/file/Table1.pdf
http://www.hal.inserm.fr/inserm-00721562/file/Table2.pdf

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
ISSN: 1079-9796

hal-01679011
https://hal.univ-antilles.fr/hal-01679011
DOI : 10.1016/j.bcmd.2017.02.001

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
ISSN: 1079-9796

hal-01679023
https://hal.univ-antilles.fr/hal-01679023
DOI : 10.1016/j.bcmd.2017.02.001

Éditeur(s) : HAL CCSD IOS Press
Résumé : International audience
This document, supported by both the International Society for Clinical Hemorheology and the European Society for Clinical Hemorheology and Microcirculation, proposes new guidelines for hemorheological methods used in experimental and clinical studies. It is based on a similar document entitled: "Guidelines for measurement of blood viscosity and erythrocyte deformability" published in 1986 by the Expert Panel on Blood Rheology of the International Committee for Standardization in Hematology. Recent methods, techniques and instruments, as well as new approaches to interpretation of results, are added to these new guidelines; wide spread adoption should improve comparability between hemorheological laboratories and increase the reliability of rheological tests.
ISSN: 1386-0291

hal-00709840
https://hal.archives-ouvertes.fr/hal-00709840
https://hal.archives-ouvertes.fr/hal-00709840/document
https://hal.archives-ouvertes.fr/hal-00709840/file/New_Guidelines_accepted_1-4-2009.pdf

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
ISSN: 0007-1048

hal-01679026
https://hal.univ-antilles.fr/hal-01679026
DOI : 10.1111/bjh.14693

Éditeur(s) : HAL CCSD American Society of Clinical Oncology
Résumé : International audience
PURPOSE: Determining whether environmental estrogens are associated with the risk of prostate cancer may have important implications for our general understanding of this disease. The estrogenic insecticide chlordecone was used extensively in the French West Indies, contaminating the population for more than 30 years. We analyzed the relationship between exposure to chlordecone and the risk of prostate cancer. PATIENTS AND METHODS: We investigated 623 men with prostate cancer and 671 controls. Exposure was analyzed according to case-control status, using either current plasma concentration or a cumulative exposure index based on years of exposure. We genotyped two single-nucleotide polymorphisms (rs3829125 and rs17134592) in the gene encoding chlordecone reductase. RESULTS: We found a significant increase in the risk of prostate cancer with increasing plasma chlordecone concentration (odds ratio [OR], 1.77; 95% CI, 1.21 to 2.58 for the highest tertile of values above the limit of detection [LD]; P trend = .002) and for cumulative exposure index (OR, 1.73; 95% CI, 1.04 to 2.88 for the highest quartile; P trend = .004). Stronger associations were observed among those with a positive family history of prostate cancer and among those who had lived in a Western country. The rs3829125 and rs17134592 allele variants were in complete linkage disequilibrium and were found at low frequency (0.04). Among subjects with plasma chlordecone concentrations above the LD, carriers of the allele variants had a higher risk of prostate cancer (OR, 5.23; 95% CI, 0.82 to 33.32). CONCLUSION: These findings support the hypothesis that exposure to environmental estrogens increases the risk of prostate cancer.
ISSN: 0732-183X

inserm-00518099
http://www.hal.inserm.fr/inserm-00518099
DOI : 10.1200/JCO.2009.27.2153
PUBMED : 20566993

Éditeur(s) : HAL CCSD ACSM
Résumé : International audience
A 26-yr-old man with sickle cell trait (SCT) suddenly lost visual acuity in the left eye after a cycling race in hot tropical environment. The cause was massive central retinal vein occlusion (CRVO) with hemorrhaging that rapidly worsened to neovascular glaucoma. Although medically treated, the eye is now marked by total retinal detachment. Cardiovascular function assessment shows no electrocardiographic abnormalities, no anomaly in the supra-aortic tree, and no evidence of structural heart disease. Although normal coagulation markers values (i.e., activated partial thromboplastin time, prothrombin time, fibrinogen concentration, antithrombin III, factor V, proteins C and S) were observed 2.5 months after the clinical event, a transesophageal echocardiogram performed few hours after the incident revealed the presence of four thrombi in the left atrium suggesting a postexercise hypercoagulable state at that time. Hemorheological measurements at distance of the events demonstrated high red blood cell rigidity at baseline. Therefore, marked blood rheological impairment and activation of the coagulation pathway in response to the heavy and prolonged cycling race could have promoted CRVO in this cyclist carrying SCT. These data suggest that SCT could be considered as a risk factor for significant ocular complications when severe exercise is performed and support the idea that SCT is a contributing factor in blood rheology and vascular dysfunctions.
Medicine & Science in Sports & exercise

Droits : info:eu-repo/semantics/OpenAccess
hal-00698572
https://hal.univ-antilles.fr/hal-00698572
https://hal.univ-antilles.fr/hal-00698572/document
https://hal.univ-antilles.fr/hal-00698572/file/Hedreville_et_al_revised_MSSE-D-08-00064R2.pdf
DOI : 10.1249/MSS.0b013e31818313d0

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
The levels and duration of physical activity that can be considered as completely safe in patients with sickle cell anemia (SCA) is unknown. The present study compared the hemorheological and hematological profile, cell density distribution and basic biochemistry between a group of 17 patients with SCA and 21 healthy subjects before and after a 20 min duration submaximal cycling exercise at the same absolute workload. Blood was sampled at rest and 3 min after the end of exercise for measurement of biological parameters. Exercise did not affect the hematocrit and blood viscosity in the two groups. Plasma viscosity was not different between the two groups at rest and similarly increased with exercise. The proportion of intermediary dense cells (with density between 1.11 and 1.12 g/ml) decreased with exercise in the SCA group resulting in an increase in the proportion of red blood cells with a density > 1.12 g/ml. No change was observed in the control group. The present study suggests that mild-moderate exercise is not very harmful for SCA patients. The hemorheological and hematological changes very mild, except for the formation of dense cells but no clinically significant signs of medical complication were present in any of the patients.
ISSN: 0007-1048

hal-00640629
https://hal.archives-ouvertes.fr/hal-00640629
https://hal.archives-ouvertes.fr/hal-00640629/document
https://hal.archives-ouvertes.fr/hal-00640629/file/PEER_stage2_10.1111%252Fj.1365-2141.2011.08728.x.pdf
DOI : 10.1111/j.1365-2141.2011.08728.x

Éditeur(s) : HAL CCSD
Résumé : International audience
This study compared the hemorheological profile at rest and in response to a short supramaximal exercise test between sickle cell trait (SCT) carriers and a control group. Eight SCT carriers and eight control subjects performed a ramp exercise test on a cycle ergometer conducted to maximal oxygen uptake ðV_ O2maxÞ: One week later, they performed a supramaximal exercise test consisting of pedaling for 1 min at 110% V_ O2max: Blood viscosity (gb), plasma viscosity (gp), hematocrit (Hct) and red blood cell (RBC) rigidity were assessed at rest, at the end of exercise and at the 15th, 30th and 60th min of recovery. Exercise increased gb, gp and Hct above resting values in both groups and these parameters remained higher until the 15th or 30th min of recovery as compared to resting values. RBC rigidity was unchanged from baseline values in both groups during exercise and recovery. No difference was observed between the two groups for gp and Hct but gb and RBC rigidity were higher in the SCT carriers at every time point compared with the control group. The higher RBC rigidity and gb found in SCT carriers at rest and in response to a brief supramaximal exercise might constitute a risk factor for microcirculatory complications. Indeed, a short supramaximal exercise test may not be completely inoffensive for SCT carriers.
EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY

hal-00706158
https://hal.univ-antilles.fr/hal-00706158
DOI : 10.1007/s00421-006-0155-3