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4 results on '"Philippe, Lacan"'

1. UGT1A1 (TA) n genotype is not the major risk factor of cholelithiasis in sickle cell disease children

Author

Vincent Pialoux, Daniella Cuzzubbo, Philippe Connes, Yves Bertrand, Nathalie Garnier, Kamila Kebaili, Philippe Joly, Céline Renoux, Cyril Martin, Giovanna Cannas, Philippe Lacan, Alexandra Gauthier, Marc Romana, Cecile Renard, Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL), Hôpital Edouard Herriot [CHU - HCL], Service d'hématologie : Immuno-Hématologie pédiatrique et transplantation de moelle osseuse, Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), and Université des Antilles et de la Guyane (UAG)

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Cell, Disease, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Internal medicine, Genotype, medicine, ComputingMilieux_MISCELLANEOUS, business.industry, Proportional hazards model, Hematology, General Medicine, University hospital, medicine.disease, Acute chest syndrome, 3. Good health, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Immunology, Complication, business, Vaso-occlusive crisis, 030215 immunology
Abstract

OBJECTIVES Because of the increased hemolytic rate, a significant proportion of patients with sickle cell disease (SCD) are prone to develop cholelithiasis. The present study investigated the role of several genetic factors (UGT1A1 promoter (TA)n repeat polymorphism, alpha-globin status), hematological parameters, clinical severity, and hydroxyurea (HU) therapy on the occurrence of cholelithiasis in SCD. METHODS One hundred and fifty-eight children (2-18 yr old) regularly followed at the University Hospital of Lyon (France) were included. A multivariate Cox model was used to test the associations between cholelithiasis and the different parameters analyzed. RESULTS We confirmed that alpha-thalassemia and low basal reticulocyte (RET) count were independent protective factors for cholelithiasis while 7/7, 8/8 and 7/8 UGT1A1 (TA)n genotypes were independent predisposing factors for this complication. We also showed for the first time that HU treatment decreased the risk for cholelithiasis while frequent vaso-occlusive crises and acute chest syndrome events increased that risk. CONCLUSIONS Our findings demonstrate that UGT1A1 (TA)n polymorphism is not the only factor triggering gallstone formation in SCD. Cholelithiasis is also modulated by RET count, the number of deleted alpha-genes, HU therapy and the frequency of vaso-occlusive events.

Published
2017
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2. Hb Hope [β136Gly→Asp] and Hb Grady [α119_120insGluPheThr] compound heterozygosity in a Mauritanian patient

Author

Julie Plantamura, Johanna Konopacki, Philippe Joly, Philippe Lacan, Hervé Delacour, Hôpital d'Instruction des Armées Begin, Service de Santé des Armées, Département d'hématologie, Hôpital d'instruction des Armées Percy, and Service de Santé des Armées-Service de Santé des Armées

Subjects
Genetics, 030213 general clinical medicine, [SDV]Life Sciences [q-bio], Biochemistry (medical), Clinical Biochemistry, Heterozygote advantage, General Medicine, Biology, Compound heterozygosity, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Hemoglobinopathy, Hemoglobin A2, medicine, ComputingMilieux_MISCELLANEOUS, 030215 immunology
Abstract

International audience

Published
2016
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3. A New Intergenic α -Globin Deletion ( α – α Δ125 ) Found in a Kabyle Population

Author

Philippe Lacan, Philippe Joly, Patricia Bignet, Amrathlal Rabbind Singh, C. Dumesnil, Estelle Cadet, Jacques Rochette, Jean-Pierre Vannier, HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), CHU Amiens-Picardie-Université de Picardie Jules Verne (UPJV)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Micro-Environnement et Régulation Cellulaire Intégrée (MERCI), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Centre de Recherche et d'Innovation sur le Sport (EA647) (CRIS), and Université de Lyon-Université de Lyon

Subjects
0301 basic medicine, Adult, Male, Adolescent, [SDV]Life Sciences [q-bio], Clinical Biochemistry, Population, DNA Mutational Analysis, Biology, Polymerase Chain Reaction, law.invention, 03 medical and health sciences, Young Adult, Intergenic region, alpha-Globins, law, Multiplex polymerase chain reaction, Gene cluster, Humans, Allele, education, Child, Gene, Genetics (clinical), Polymerase chain reaction, ComputingMilieux_MISCELLANEOUS, Aged, Sequence Deletion, Genetics, Aged, 80 and over, education.field_of_study, Base Sequence, Biochemistry (medical), Hematology, Middle Aged, Noncoding DNA, Molecular biology, 3. Good health, 030104 developmental biology, Genetics, Population, Algeria, Child, Preschool, Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

We have identified a deletion of 125 bp (α-α(Δ125)) (NG_000006.1: g.37040_37164del) in the α-globin gene cluster in a Kabyle population. A combination of singlex and multiplex polymerase chain reaction (PCR)-based assays have been used to identify the molecular defect. Sequencing of the abnormal PCR amplification product revealed a novel α1-globin promoter deletion. The endpoints of the deletion were characterized by sequencing the deletion junctions of the mutated allele. The observed deletion was located 378 bp upstream of the α1-globin gene transcription initiation site and leaves the α2 gene intact. In some patients, the α-α(Δ125) deletion was shown to segregate with Hb S (HBB: c.20A>T) and/or Hb C (HBB: c.19G>A) or a β-thalassemic allele. The α-α(Δ125) deletion has no discernible effect on red cell indices when inherited with no other abnormal globin genes. The family study demonstrated that the deletion is heritable. This is the only example of an intergenic α2-α1 non coding DNA deletion, leaving the α2-globin gene and the α1 coding part intact.

Published
2015
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4. A New Hemoglobin Variant: Hb Meylan [β73(E17)Asp → Phe; HBB : c.220G>T; c.221A>T] with a Double Base Mutation at the Same Codon

Author

Cécile Feray, Alain Francina, Céline Renoux, Isabelle Zanella-Cléon, Philippe Lacan, Caroline Garcia, Philippe Joly, Nicole Couprie, Centre de Recherche et d'Innovation sur le Sport (EA647) (CRIS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Institut de biologie et chimie des protéines [Lyon] (IBCP), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Sécurité et Qualité des Produits d'Origine Végétale (SQPOV), Avignon Université (AU)-Institut National de la Recherche Agronomique (INRA), Unité de Pathologie Moléculaire du Globule Rouge, Hospices Civils de Lyon (HCL)-Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), and Avignon Université (AU)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)

Subjects
Hemoglobins, Abnormal, [SDV]Life Sciences [q-bio], Clinical Biochemistry, Molecular Sequence Data, Gene Conversion, beta-Globins, Base (group theory), Humans, Point Mutation, Nucleotide, Gene conversion, Codon, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, chemistry.chemical_classification, Base Sequence, Biochemistry (medical), Hemoglobin variants, Hematology, New variant, Middle Aged, Molecular biology, 3. Good health, chemistry, Mutation (genetic algorithm), Female
Abstract

We report a new β-globin chain variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T]. The new variant results from a double nucleotide mutation at the same codon. The possible molecular mechanisms are discussed.

Published
2014
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