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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>SORBS1</italic> gene, a new candidate for diabetic nephropathy: results from a multi-stage Genome Wide Association Study in type 1 diabetes patients</title><author><name sortKey="Germain, Marine" sort="Germain, Marine" uniqKey="Germain M" first="Marine" last="Germain">Marine Germain</name><affiliation><nlm:aff id="A1">Sorbonne Université, UPMC Université Paris 06, UMR_S 1166, Team<italic>Genomics & Pathophysiology of Cardiovascular Diseases</italic>, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">INSERM, UMR_S 1166, Team<italic>Genomics & Pathophysiology of Cardiovascular Diseases</italic>, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">ICAN Institute for Cardiometabolism and Nutrition, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Pezzolesi, Marcus G" sort="Pezzolesi, Marcus G" uniqKey="Pezzolesi M" first="Marcus G" last="Pezzolesi">Marcus G. Pezzolesi</name><affiliation><nlm:aff id="A4">Research Division, Joslin Diabetes Center &Department of Medicine, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Sandholm, Niina" sort="Sandholm, Niina" uniqKey="Sandholm N" first="Niina" last="Sandholm">Niina Sandholm</name><affiliation><nlm:aff id="A5">Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A7">Department of Biomedical Engineering and Computational Science, Aalto University, Espoo, Finland</nlm:aff></affiliation></author><author><name sortKey="Mcknight, Amy Jayne" sort="Mcknight, Amy Jayne" uniqKey="Mcknight A" first="Amy Jayne" last="Mcknight">Amy Jayne Mcknight</name><affiliation><nlm:aff id="A8">Nephrology Research, Centre for Public Health, Queen’s University of Belfast, Belfast, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Susztak, Katalin" sort="Susztak, Katalin" uniqKey="Susztak K" first="Katalin" last="Susztak">Katalin Susztak</name><affiliation><nlm:aff id="A9">University of Pennsylvania; Renal Electrolyte and Hypertension Division; Philadelphia, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Lajer, Maria" sort="Lajer, Maria" uniqKey="Lajer M" first="Maria" last="Lajer">Maria Lajer</name><affiliation><nlm:aff id="A10">Steno Diabetes Center, Gentofte, Denmark</nlm:aff></affiliation></author><author><name sortKey="Forsblom, Carol" sort="Forsblom, Carol" uniqKey="Forsblom C" first="Carol" last="Forsblom">Carol Forsblom</name><affiliation><nlm:aff id="A5">Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Marre, Michel" sort="Marre, Michel" uniqKey="Marre M" first="Michel" last="Marre">Michel Marre</name><affiliation><nlm:aff id="A11">Université Paris-Diderot, Sorbonne Paris-Cité, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Diabetologie, AP-HP, Hôpital Bichat, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Departement Hospitalo-Universitaire FIRE, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">INSERM U-1138, Centre de Recherche des Cordeliers, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Prarving, Hans Henrik" sort="Prarving, Hans Henrik" uniqKey="Prarving H" first="Hans-Henrik" last="Prarving">Hans-Henrik Prarving</name><affiliation><nlm:aff id="A10">Steno Diabetes Center, Gentofte, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Faculty of Health Sciences, University of Aarhus, Aarhus, Denmark</nlm:aff></affiliation></author><author><name sortKey="Rossing, Peter" sort="Rossing, Peter" uniqKey="Rossing P" first="Peter" last="Rossing">Peter Rossing</name><affiliation><nlm:aff id="A10">Steno Diabetes Center, Gentofte, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Faculty of Health Sciences, University of Aarhus, Aarhus, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Novo Nordisk Foundation, Center for Basic Metabolic Research, Faculty of Health, University of Copenhagen, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Toppila, Iiro" sort="Toppila, Iiro" uniqKey="Toppila I" first="Iiro" last="Toppila">Iiro Toppila</name><affiliation><nlm:aff id="A5">Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Skupien, Jan" sort="Skupien, Jan" uniqKey="Skupien J" first="Jan" last="Skupien">Jan Skupien</name><affiliation><nlm:aff id="A4">Research Division, Joslin Diabetes Center &Department of Medicine, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland</nlm:aff></affiliation></author><author><name sortKey="Roussel, Ronan" sort="Roussel, Ronan" uniqKey="Roussel R" first="Ronan" last="Roussel">Ronan Roussel</name><affiliation><nlm:aff id="A11">Université Paris-Diderot, Sorbonne Paris-Cité, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Diabetologie, AP-HP, Hôpital Bichat, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Departement Hospitalo-Universitaire FIRE, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">INSERM U-1138, Centre de Recherche des Cordeliers, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Ko, Yi An" sort="Ko, Yi An" uniqKey="Ko Y" first="Yi-An" last="Ko">Yi-An Ko</name><affiliation><nlm:aff id="A9">University of Pennsylvania; Renal Electrolyte and Hypertension Division; Philadelphia, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Ledo, Nora" sort="Ledo, Nora" uniqKey="Ledo N" first="Nora" last="Ledo">Nora Ledo</name><affiliation><nlm:aff id="A9">University of Pennsylvania; Renal Electrolyte and Hypertension Division; Philadelphia, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Folkersen, Lasse" sort="Folkersen, Lasse" uniqKey="Folkersen L" first="Lasse" last="Folkersen">Lasse Folkersen</name><affiliation><nlm:aff id="A18">Department of PharmacoGenetics, Novo Nordisk Park 9.1.21, Copenhagen, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A19">Atherosclerosis research unit, Karolinska hospital, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Civelek, Mete" sort="Civelek, Mete" uniqKey="Civelek M" first="Mete" last="Civelek">Mete Civelek</name><affiliation><nlm:aff id="A20">Department of Medicine, University of California Los Angeles, Los Angeles, California</nlm:aff></affiliation></author><author><name sortKey="Maxwell, Alexander P" sort="Maxwell, Alexander P" uniqKey="Maxwell A" first="Alexander P" last="Maxwell">Alexander P. Maxwell</name><affiliation><nlm:aff id="A8">Nephrology Research, Centre for Public Health, Queen’s University of Belfast, Belfast, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Regional Nephrology Unit, Belfast City Hospital, Belfast, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Tregouet, David Alexandre" sort="Tregouet, David Alexandre" uniqKey="Tregouet D" first="David Alexandre" last="Tregouet">David Alexandre Tregouet</name><affiliation><nlm:aff id="A1">Sorbonne Université, UPMC Université Paris 06, UMR_S 1166, Team<italic>Genomics & Pathophysiology of Cardiovascular Diseases</italic>, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">INSERM, UMR_S 1166, Team<italic>Genomics & Pathophysiology of Cardiovascular Diseases</italic>, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">ICAN Institute for Cardiometabolism and Nutrition, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Groop, Per Henrik" sort="Groop, Per Henrik" uniqKey="Groop P" first="Per-Henrik" last="Groop">Per-Henrik Groop</name><affiliation><nlm:aff id="A5">Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Baker IDI, Heart and Diabetes Institute, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Tarnow, Lise" sort="Tarnow, Lise" uniqKey="Tarnow L" first="Lise" last="Tarnow">Lise Tarnow</name><affiliation><nlm:aff id="A10">Steno Diabetes Center, Gentofte, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Faculty of Health Sciences, University of Aarhus, Aarhus, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Nordsjaellands Hospital, Aarhus, Denmark</nlm:aff></affiliation></author><author><name sortKey="Hadjadj, Samy" sort="Hadjadj, Samy" uniqKey="Hadjadj S" first="Samy" last="Hadjadj">Samy Hadjadj</name><affiliation><nlm:aff id="A24">Université de Poitiers, UFR Médecine Pharmacie, Centre d’Investigation clinique, Poitiers, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">CHU de Poitiers, Service d’Endocrinologie-Diabetologie and Centre d’Investigation clinique, Poitiers, France</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Inserm, CIC1402 and U1082, Poitiers, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25476525</idno><idno type="pmc">5438751</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438751</idno><idno type="RBID">PMC:5438751</idno><idno type="doi">10.1007/s00125-014-3459-6</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001C47</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001C47</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>SORBS1</italic> gene, a new candidate for diabetic nephropathy: results from a multi-stage Genome Wide Association Study in type 1 diabetes patients</title><author><name sortKey="Germain, Marine" sort="Germain, Marine" uniqKey="Germain M" first="Marine" last="Germain">Marine Germain</name><affiliation><nlm:aff id="A1">Sorbonne Université, UPMC Université Paris 06, UMR_S 1166, Team<italic>Genomics & Pathophysiology of Cardiovascular Diseases</italic>, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">INSERM, UMR_S 1166, Team<italic>Genomics & Pathophysiology of Cardiovascular Diseases</italic>, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">ICAN Institute for Cardiometabolism and Nutrition, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Pezzolesi, Marcus G" sort="Pezzolesi, Marcus G" uniqKey="Pezzolesi M" first="Marcus G" last="Pezzolesi">Marcus G. Pezzolesi</name><affiliation><nlm:aff id="A4">Research Division, Joslin Diabetes Center &Department of Medicine, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Sandholm, Niina" sort="Sandholm, Niina" uniqKey="Sandholm N" first="Niina" last="Sandholm">Niina Sandholm</name><affiliation><nlm:aff id="A5">Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A7">Department of Biomedical Engineering and Computational Science, Aalto University, Espoo, Finland</nlm:aff></affiliation></author><author><name sortKey="Mcknight, Amy Jayne" sort="Mcknight, Amy Jayne" uniqKey="Mcknight A" first="Amy Jayne" last="Mcknight">Amy Jayne Mcknight</name><affiliation><nlm:aff id="A8">Nephrology Research, Centre for Public Health, Queen’s University of Belfast, Belfast, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Susztak, Katalin" sort="Susztak, Katalin" uniqKey="Susztak K" first="Katalin" last="Susztak">Katalin Susztak</name><affiliation><nlm:aff id="A9">University of Pennsylvania; Renal Electrolyte and Hypertension Division; Philadelphia, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Lajer, Maria" sort="Lajer, Maria" uniqKey="Lajer M" first="Maria" last="Lajer">Maria Lajer</name><affiliation><nlm:aff id="A10">Steno Diabetes Center, Gentofte, Denmark</nlm:aff></affiliation></author><author><name sortKey="Forsblom, Carol" sort="Forsblom, Carol" uniqKey="Forsblom C" first="Carol" last="Forsblom">Carol Forsblom</name><affiliation><nlm:aff id="A5">Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Marre, Michel" sort="Marre, Michel" uniqKey="Marre M" first="Michel" last="Marre">Michel Marre</name><affiliation><nlm:aff id="A11">Université Paris-Diderot, Sorbonne Paris-Cité, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Diabetologie, AP-HP, Hôpital Bichat, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Departement Hospitalo-Universitaire FIRE, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">INSERM U-1138, Centre de Recherche des Cordeliers, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Prarving, Hans Henrik" sort="Prarving, Hans Henrik" uniqKey="Prarving H" first="Hans-Henrik" last="Prarving">Hans-Henrik Prarving</name><affiliation><nlm:aff id="A10">Steno Diabetes Center, Gentofte, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Faculty of Health Sciences, University of Aarhus, Aarhus, Denmark</nlm:aff></affiliation></author><author><name sortKey="Rossing, Peter" sort="Rossing, Peter" uniqKey="Rossing P" first="Peter" last="Rossing">Peter Rossing</name><affiliation><nlm:aff id="A10">Steno Diabetes Center, Gentofte, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Faculty of Health Sciences, University of Aarhus, Aarhus, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Novo Nordisk Foundation, Center for Basic Metabolic Research, Faculty of Health, University of Copenhagen, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Toppila, Iiro" sort="Toppila, Iiro" uniqKey="Toppila I" first="Iiro" last="Toppila">Iiro Toppila</name><affiliation><nlm:aff id="A5">Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Skupien, Jan" sort="Skupien, Jan" uniqKey="Skupien J" first="Jan" last="Skupien">Jan Skupien</name><affiliation><nlm:aff id="A4">Research Division, Joslin Diabetes Center &Department of Medicine, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland</nlm:aff></affiliation></author><author><name sortKey="Roussel, Ronan" sort="Roussel, Ronan" uniqKey="Roussel R" first="Ronan" last="Roussel">Ronan Roussel</name><affiliation><nlm:aff id="A11">Université Paris-Diderot, Sorbonne Paris-Cité, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Diabetologie, AP-HP, Hôpital Bichat, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Departement Hospitalo-Universitaire FIRE, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A14">INSERM U-1138, Centre de Recherche des Cordeliers, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Ko, Yi An" sort="Ko, Yi An" uniqKey="Ko Y" first="Yi-An" last="Ko">Yi-An Ko</name><affiliation><nlm:aff id="A9">University of Pennsylvania; Renal Electrolyte and Hypertension Division; Philadelphia, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Ledo, Nora" sort="Ledo, Nora" uniqKey="Ledo N" first="Nora" last="Ledo">Nora Ledo</name><affiliation><nlm:aff id="A9">University of Pennsylvania; Renal Electrolyte and Hypertension Division; Philadelphia, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Folkersen, Lasse" sort="Folkersen, Lasse" uniqKey="Folkersen L" first="Lasse" last="Folkersen">Lasse Folkersen</name><affiliation><nlm:aff id="A18">Department of PharmacoGenetics, Novo Nordisk Park 9.1.21, Copenhagen, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A19">Atherosclerosis research unit, Karolinska hospital, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Civelek, Mete" sort="Civelek, Mete" uniqKey="Civelek M" first="Mete" last="Civelek">Mete Civelek</name><affiliation><nlm:aff id="A20">Department of Medicine, University of California Los Angeles, Los Angeles, California</nlm:aff></affiliation></author><author><name sortKey="Maxwell, Alexander P" sort="Maxwell, Alexander P" uniqKey="Maxwell A" first="Alexander P" last="Maxwell">Alexander P. Maxwell</name><affiliation><nlm:aff id="A8">Nephrology Research, Centre for Public Health, Queen’s University of Belfast, Belfast, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Regional Nephrology Unit, Belfast City Hospital, Belfast, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Tregouet, David Alexandre" sort="Tregouet, David Alexandre" uniqKey="Tregouet D" first="David Alexandre" last="Tregouet">David Alexandre Tregouet</name><affiliation><nlm:aff id="A1">Sorbonne Université, UPMC Université Paris 06, UMR_S 1166, Team<italic>Genomics & Pathophysiology of Cardiovascular Diseases</italic>, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">INSERM, UMR_S 1166, Team<italic>Genomics & Pathophysiology of Cardiovascular Diseases</italic>, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">ICAN Institute for Cardiometabolism and Nutrition, F-75013, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Groop, Per Henrik" sort="Groop, Per Henrik" uniqKey="Groop P" first="Per-Henrik" last="Groop">Per-Henrik Groop</name><affiliation><nlm:aff id="A5">Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Baker IDI, Heart and Diabetes Institute, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Tarnow, Lise" sort="Tarnow, Lise" uniqKey="Tarnow L" first="Lise" last="Tarnow">Lise Tarnow</name><affiliation><nlm:aff id="A10">Steno Diabetes Center, Gentofte, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Faculty of Health Sciences, University of Aarhus, Aarhus, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Nordsjaellands Hospital, Aarhus, Denmark</nlm:aff></affiliation></author><author><name sortKey="Hadjadj, Samy" sort="Hadjadj, Samy" uniqKey="Hadjadj S" first="Samy" last="Hadjadj">Samy Hadjadj</name><affiliation><nlm:aff id="A24">Université de Poitiers, UFR Médecine Pharmacie, Centre d’Investigation clinique, Poitiers, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">CHU de Poitiers, Service d’Endocrinologie-Diabetologie and Centre d’Investigation clinique, Poitiers, France</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Inserm, CIC1402 and U1082, Poitiers, France</nlm:aff></affiliation></author></analytic><series><title level="j">Diabetologia</title><idno type="ISSN">0012-186X</idno><idno type="eISSN">1432-0428</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P1">The genetic determinants of diabetic nephropathy remain poorly understood. We aimed to identify novel susceptibility genes for diabetic nephropathy.</p></sec><sec id="S2"><title>Patients and methods</title><p id="P2">We performed a genome-wide association study using 1000 Genomes-based imputation in type 1 diabetic patients comparing diabetic nephropathy cases with proteinuria with or without renal failure to controls with diabetes for more than 15 years and no evidence of renal disease.</p></sec><sec id="S3"><title>Results</title><p id="P3">None of the SNPs tested in a discovery cohort composed of 683 cases and 779 controls reached genome-wide statistical significance. The 46 top hits (p-value < 10<sup>−5</sup>) were then sought for first-stage analysis in US-GoKinD an independent population of 820 cases and 885 controls. Two SNPs, in strong linkage disequilibrium with each other, located in the <italic>SORBS1</italic> gene, were consistently and significantly (p < 10<sup>−4</sup>) associated with diabetic nephropathy. The minor rs1326934-C allele was less frequent in cases than in controls (0.34 vs 0.43) and was associated with a decreased risk for diabetic nephropathy: OR = 0.70 [0.60 – 0.82]. However, this association was not observed in a second-stage with two additional diabetic nephropathy cohorts UK-ROI (p=0.15) and FINNDIANE (p = 0.44) totaling 2,142 cases and 2,494 controls. Altogether, the random-effect meta-analyzed rs1326934-C allele OR for diabetic nephropathy was 0.83 [0.72 – 0.96] (p = 0.009).</p></sec><sec id="S4"><title>Conclusion</title><p id="P4">These data suggest that <italic>SORBS1</italic> might be a gene involved in diabetic nephropathy.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">0006777</journal-id><journal-id journal-id-type="pubmed-jr-id">3399</journal-id><journal-id journal-id-type="nlm-ta">Diabetologia</journal-id><journal-id journal-id-type="iso-abbrev">Diabetologia</journal-id><journal-title-group><journal-title>Diabetologia</journal-title></journal-title-group><issn pub-type="ppub">0012-186X</issn><issn pub-type="epub">1432-0428</issn></journal-meta><article-meta><article-id pub-id-type="pmid">25476525</article-id><article-id pub-id-type="pmc">5438751</article-id><article-id pub-id-type="doi">10.1007/s00125-014-3459-6</article-id><article-id pub-id-type="manuscript">NIHMS784236</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title><italic>SORBS1</italic> gene, a new candidate for diabetic nephropathy: results from a multi-stage Genome Wide Association Study in type 1 diabetes patients</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>GERMAIN</surname><given-names>Marine</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>PEZZOLESI</surname><given-names>Marcus G</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>SANDHOLM</surname><given-names>Niina</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>McKNIGHT</surname><given-names>Amy Jayne</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>SUSZTAK</surname><given-names>Katalin</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>LAJER</surname><given-names>Maria</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>FORSBLOM</surname><given-names>Carol</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>MARRE</surname><given-names>Michel</given-names></name><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>PRARVING</surname><given-names>Hans-Henrik</given-names></name><xref ref-type="aff" rid="A10">10</xref><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>ROSSING</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="A10">10</xref><xref ref-type="aff" rid="A15">15</xref><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>TOPPILA</surname><given-names>Iiro</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>SKUPIEN</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>ROUSSEL</surname><given-names>Ronan</given-names></name><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>KO</surname><given-names>Yi-An</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>LEDO</surname><given-names>Nora</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>FOLKERSEN</surname><given-names>Lasse</given-names></name><xref ref-type="aff" rid="A18">18</xref><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>CIVELEK</surname><given-names>Mete</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>MAXWELL</surname><given-names>Alexander P</given-names></name><xref ref-type="aff" rid="A8">8</xref><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>TREGOUET</surname><given-names>David Alexandre</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>GROOP</surname><given-names>Per-Henrik</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>TARNOW</surname><given-names>Lise</given-names></name><xref ref-type="aff" rid="A10">10</xref><xref ref-type="aff" rid="A15">15</xref><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>HADJADJ</surname><given-names>Samy</given-names></name><xref ref-type="aff" rid="A24">24</xref><xref ref-type="aff" rid="A25">25</xref><xref ref-type="aff" rid="A26">26</xref></contrib></contrib-group><aff id="A1"><label>1</label>Sorbonne Université, UPMC Université Paris 06, UMR_S 1166, Team<italic>Genomics & Pathophysiology of Cardiovascular Diseases</italic>, F-75013, Paris, France</aff><aff id="A2"><label>2</label>INSERM, UMR_S 1166, Team<italic>Genomics & Pathophysiology of Cardiovascular Diseases</italic>, F-75013, Paris, France</aff><aff id="A3"><label>3</label>ICAN Institute for Cardiometabolism and Nutrition, F-75013, Paris, France</aff><aff id="A4"><label>4</label>Research Division, Joslin Diabetes Center &Department of Medicine, Harvard Medical School, Boston, Massachusetts</aff><aff id="A5"><label>5</label>Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland</aff><aff id="A6"><label>6</label>Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland</aff><aff id="A7"><label>7</label>Department of Biomedical Engineering and Computational Science, Aalto University, Espoo, Finland</aff><aff id="A8"><label>8</label>Nephrology Research, Centre for Public Health, Queen’s University of Belfast, Belfast, United Kingdom</aff><aff id="A9"><label>9</label>University of Pennsylvania; Renal Electrolyte and Hypertension Division; Philadelphia, Pennsylvania</aff><aff id="A10"><label>10</label>Steno Diabetes Center, Gentofte, Denmark</aff><aff id="A11"><label>11</label>Université Paris-Diderot, Sorbonne Paris-Cité, Paris, France</aff><aff id="A12"><label>12</label>Diabetologie, AP-HP, Hôpital Bichat, Paris, France</aff><aff id="A13"><label>13</label>Departement Hospitalo-Universitaire FIRE, Paris, France</aff><aff id="A14"><label>14</label>INSERM U-1138, Centre de Recherche des Cordeliers, Paris, France</aff><aff id="A15"><label>15</label>Faculty of Health Sciences, University of Aarhus, Aarhus, Denmark</aff><aff id="A16"><label>16</label>Novo Nordisk Foundation, Center for Basic Metabolic Research, Faculty of Health, University of Copenhagen, Copenhagen, Denmark</aff><aff id="A17"><label>17</label>Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland</aff><aff id="A18"><label>18</label>Department of PharmacoGenetics, Novo Nordisk Park 9.1.21, Copenhagen, Denmark</aff><aff id="A19"><label>19</label>Atherosclerosis research unit, Karolinska hospital, Stockholm, Sweden</aff><aff id="A20"><label>20</label>Department of Medicine, University of California Los Angeles, Los Angeles, California</aff><aff id="A21"><label>21</label>Regional Nephrology Unit, Belfast City Hospital, Belfast, United Kingdom</aff><aff id="A22"><label>22</label>Baker IDI, Heart and Diabetes Institute, Melbourne, Australia</aff><aff id="A23"><label>23</label>Nordsjaellands Hospital, Aarhus, Denmark</aff><aff id="A24"><label>24</label>Université de Poitiers, UFR Médecine Pharmacie, Centre d’Investigation clinique, Poitiers, France</aff><aff id="A25"><label>25</label>CHU de Poitiers, Service d’Endocrinologie-Diabetologie and Centre d’Investigation clinique, Poitiers, France</aff><aff id="A26"><label>26</label>Inserm, CIC1402 and U1082, Poitiers, France</aff><author-notes><corresp id="FN1">Corresponding author: Samy HADJADJ - Endocrinology & diabetology– CHU Poitiers, BP 577 – 86021 POITIERS Cedex – France, Tel : +33549443043 Fax: +33549444006, <email>samy.hadjadj@gmail.com</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>9</day><month>5</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>06</day><month>12</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>3</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>20</day><month>5</month><year>2017</year></pub-date><volume>58</volume><issue>3</issue><fpage>543</fpage><lpage>548</lpage><pmc-comment>elocation-id from pubmed: 10.1007/s00125-014-3459-6</pmc-comment>
<abstract><sec id="S1"><title>Background</title><p id="P1">The genetic determinants of diabetic nephropathy remain poorly understood. We aimed to identify novel susceptibility genes for diabetic nephropathy.</p></sec><sec id="S2"><title>Patients and methods</title><p id="P2">We performed a genome-wide association study using 1000 Genomes-based imputation in type 1 diabetic patients comparing diabetic nephropathy cases with proteinuria with or without renal failure to controls with diabetes for more than 15 years and no evidence of renal disease.</p></sec><sec id="S3"><title>Results</title><p id="P3">None of the SNPs tested in a discovery cohort composed of 683 cases and 779 controls reached genome-wide statistical significance. The 46 top hits (p-value < 10<sup>−5</sup>) were then sought for first-stage analysis in US-GoKinD an independent population of 820 cases and 885 controls. Two SNPs, in strong linkage disequilibrium with each other, located in the <italic>SORBS1</italic> gene, were consistently and significantly (p < 10<sup>−4</sup>) associated with diabetic nephropathy. The minor rs1326934-C allele was less frequent in cases than in controls (0.34 vs 0.43) and was associated with a decreased risk for diabetic nephropathy: OR = 0.70 [0.60 – 0.82]. However, this association was not observed in a second-stage with two additional diabetic nephropathy cohorts UK-ROI (p=0.15) and FINNDIANE (p = 0.44) totaling 2,142 cases and 2,494 controls. Altogether, the random-effect meta-analyzed rs1326934-C allele OR for diabetic nephropathy was 0.83 [0.72 – 0.96] (p = 0.009).</p></sec><sec id="S4"><title>Conclusion</title><p id="P4">These data suggest that <italic>SORBS1</italic> might be a gene involved in diabetic nephropathy.</p></sec></abstract><kwd-group><kwd>diabetic nephropathy</kwd><kwd>GWAS</kwd><kwd>kidney</kwd><kwd>sorbin</kwd><kwd>type 1 diabetes</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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