Search

Your search keyword '"Zelenika, Diana"' showing total 527 results
Start Over Author "Zelenika, Diana" Publication Year Range Last 50 years
527 results on '"Zelenika, Diana"'

1. Genetic association analyses highlight biological pathways underlying mitral valve prolapse

Author

Dina, Christian, Bouatia-Naji, Nabila, Tucker, Nathan, Delling, Francesca N, Toomer, Katelynn, Durst, Ronen, Perrocheau, Maelle, Fernandez-Friera, Leticia, Solis, Jorge, Le Tourneau, Thierry, Chen, Ming-Huei, Probst, Vincent, Bosse, Yohan, Pibarot, Philippe, Zelenika, Diana, Lathrop, Mark, Hercberg, Serge, Roussel, Ronan, Benjamin, Emelia J, Bonnet, Fabrice, Lo, Su Hao, Dolmatova, Elena, Simonet, Floriane, Lecointe, Simon, Kyndt, Florence, Redon, Richard, Le Marec, Hervé, Froguel, Philippe, Ellinor, Patrick T, Vasan, Ramachandran S, Bruneval, Patrick, Markwald, Roger R, Norris, Russell A, Milan, David J, Slaugenhaupt, Susan A, Levine, Robert A, Schott, Jean-Jacques, Hagege, Albert A, and Jeunemaitre, Xavier

Subjects
Cardiovascular, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Animals, Case-Control Studies, Genome-Wide Association Study, Humans, Mice, Mitral Valve Prolapse, PROMESA investigators, MVP-France, Leducq Transatlantic MITRAL Network, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Nonsyndromic mitral valve prolapse (MVP) is a common degenerative cardiac valvulopathy of unknown etiology that predisposes to mitral regurgitation, heart failure and sudden death. Previous family and pathophysiological studies suggest a complex pattern of inheritance. We performed a meta-analysis of 2 genome-wide association studies in 1,412 MVP cases and 2,439 controls. We identified 6 loci, which we replicated in 1,422 cases and 6,779 controls, and provide functional evidence for candidate genes. We highlight LMCD1 (LIM and cysteine-rich domains 1), which encodes a transcription factor and for which morpholino knockdown of the ortholog in zebrafish resulted in atrioventricular valve regurgitation. A similar zebrafish phenotype was obtained with knockdown of the ortholog of TNS1, which encodes tensin 1, a focal adhesion protein involved in cytoskeleton organization. We also showed expression of tensin 1 during valve morphogenesis and describe enlarged posterior mitral leaflets in Tns1(-/-) mice. This study identifies the first risk loci for MVP and suggests new mechanisms involved in mitral valve regurgitation, the most common indication for mitral valve repair.

Published
2015

2. Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

Author

Cerhan, James R, Berndt, Sonja I, Vijai, Joseph, Ghesquières, Hervé, McKay, James, Wang, Sophia S, Wang, Zhaoming, Yeager, Meredith, Conde, Lucia, de Bakker, Paul IW, Nieters, Alexandra, Cox, David, Burdett, Laurie, Monnereau, Alain, Flowers, Christopher R, De Roos, Anneclaire J, Brooks-Wilson, Angela R, Lan, Qing, Severi, Gianluca, Melbye, Mads, Gu, Jian, Jackson, Rebecca D, Kane, Eleanor, Teras, Lauren R, Purdue, Mark P, Vajdic, Claire M, Spinelli, John J, Giles, Graham G, Albanes, Demetrius, Kelly, Rachel S, Zucca, Mariagrazia, Bertrand, Kimberly A, Zeleniuch-Jacquotte, Anne, Lawrence, Charles, Hutchinson, Amy, Zhi, Degui, Habermann, Thomas M, Link, Brian K, Novak, Anne J, Dogan, Ahmet, Asmann, Yan W, Liebow, Mark, Thompson, Carrie A, Ansell, Stephen M, Witzig, Thomas E, Weiner, George J, Veron, Amelie S, Zelenika, Diana, Tilly, Hervé, Haioun, Corinne, Molina, Thierry Jo, Hjalgrim, Henrik, Glimelius, Bengt, Adami, Hans-Olov, Bracci, Paige M, Riby, Jacques, Smith, Martyn T, Holly, Elizabeth A, Cozen, Wendy, Hartge, Patricia, Morton, Lindsay M, Severson, Richard K, Tinker, Lesley F, North, Kari E, Becker, Nikolaus, Benavente, Yolanda, Boffetta, Paolo, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, Staines, Anthony, Lightfoot, Tracy, Crouch, Simon, Smith, Alex, Roman, Eve, Diver, W Ryan, Offit, Kenneth, Zelenetz, Andrew, Klein, Robert J, Villano, Danylo J, Zheng, Tongzhang, Zhang, Yawei, Holford, Theodore R, Kricker, Anne, Turner, Jenny, Southey, Melissa C, Clavel, Jacqueline, Virtamo, Jarmo, Weinstein, Stephanie, Riboli, Elio, Vineis, Paolo, Kaaks, Rudolph, Trichopoulos, Dimitrios, Vermeulen, Roel CH, Boeing, Heiner, Tjonneland, Anne, Angelucci, Emanuele, Di Lollo, Simonetta, Rais, Marco, and Birmann, Brenda M

Subjects
Human Genome, Rare Diseases, Genetics, Cancer, Hematology, Lymphoma, Aetiology, 2.1 Biological and endogenous factors, Chromosome Mapping, Computational Biology, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Likelihood Functions, Lymphoma, Large B-Cell, Diffuse, Polymorphism, Single Nucleotide, Quantitative Trait Loci, White People, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 × 10(-21)), rs2523607 at 6p21.33 (HLA-B; P = 2.40 × 10(-10)), rs79480871 at 2p23.3 (NCOA1; P = 4.23 × 10(-8)) and two independent SNPs, rs13255292 and rs4733601, at 8q24.21 (PVT1; P = 9.98 × 10(-13) and 3.63 × 10(-11), respectively). These data provide substantial new evidence for genetic susceptibility to this B cell malignancy and point to pathways involved in immune recognition and immune function in the pathogenesis of DLBCL.

Published
2014

3. Global genetic architecture of an erythroid quantitative trait locus, HMIP-2.

Author

Menzel, Stephan, Rooks, Helen, Zelenika, Diana, Mtatiro, Siana N, Gnanakulasekaran, Akshala, Drasar, Emma, Cox, Sharon, Liu, Li, Masood, Mariam, Silver, Nicholas, Garner, Chad, Vasavda, Nisha, Howard, Jo, Makani, Julie, Adekile, Adekunle, Pace, Betty, Spector, Tim, Farrall, Martin, Lathrop, Mark, and Thein, Swee Lay

Subjects
Erythrocytes, Humans, Anemia, Sickle Cell, Proto-Oncogene Proteins c-myb, Sequence Analysis, DNA, Genetics, Population, Genotype, Haplotypes, Alleles, Quantitative Trait Loci, Genome, Human, African Continental Ancestry Group, European Continental Ancestry Group, Enhancer Elements, Genetic, Genetic Association Studies, Gene-Environment Interaction, Red blood cells, cMYB, gene enhancer variant, malaria, population genetics, quantitative trait locus, sickle cell disease, CMYB, Gene enhancer variant, Malaria, Population genetics, Quantitative trait locus, Sickle cell disease, Genetics & Heredity, Clinical Sciences
Abstract

HMIP-2 is a human quantitative trait locus affecting peripheral numbers, size and hemoglobin composition of red blood cells, with a marked effect on the persistence of the fetal form of hemoglobin, HbF, in adults. The locus consists of multiple common variants in an enhancer region for MYB (chr 6q23.3), which encodes the hematopoietic transcription factor cMYB. Studying a European population cohort and four African-descended groups of patients with sickle cell anemia, we found that all share a set of two spatially separate HbF-promoting alleles at HMIP-2, termed "A" and "B." These typically occurred together ("A-B") on European chromosomes, but existed on separate homologous chromosomes in Africans. Using haplotype signatures for "A" and "B," we interrogated public population datasets. Haplotypes carrying only "A" or "B" were typical for populations in Sub-Saharan Africa. The "A-B" combination was frequent in European, Asian, and Amerindian populations. Both alleles were infrequent in tropical regions, possibly undergoing negative selection by geographical factors, as has been reported for malaria with other hematological traits. We propose that the ascertainment of worldwide distribution patterns for common, HbF-promoting alleles can aid their further genetic characterization, including the investigation of gene-environment interaction during human migration and adaptation.

Published
2014

4. Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

Author

Fingerlin, Tasha E, Murphy, Elissa, Zhang, Weiming, Peljto, Anna L, Brown, Kevin K, Steele, Mark P, Loyd, James E, Cosgrove, Gregory P, Lynch, David, Groshong, Steve, Collard, Harold R, Wolters, Paul J, Bradford, Williamson Z, Kossen, Karl, Seiwert, Scott D, du Bois, Roland M, Garcia, Christine Kim, Devine, Megan S, Gudmundsson, Gunnar, Isaksson, Helgi J, Kaminski, Naftali, Zhang, Yingze, Gibson, Kevin F, Lancaster, Lisa H, Cogan, Joy D, Mason, Wendi R, Maher, Toby M, Molyneaux, Philip L, Wells, Athol U, Moffatt, Miriam F, Selman, Moises, Pardo, Annie, Kim, Dong Soon, Crapo, James D, Make, Barry J, Regan, Elizabeth A, Walek, Dinesha S, Daniel, Jerry J, Kamatani, Yoichiro, Zelenika, Diana, Smith, Keith, McKean, David, Pedersen, Brent S, Talbert, Janet, Kidd, Raven N, Markin, Cheryl R, Beckman, Kenneth B, Lathrop, Mark, Schwarz, Marvin I, and Schwartz, David A

Subjects
Biological Sciences, Genetics, Prevention, Lung, Rare Diseases, Human Genome, Pneumonia, Pneumonia & Influenza, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Respiratory, Case-Control Studies, Chromosomes, Human, Gene Expression, Gene Frequency, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Idiopathic Pulmonary Fibrosis, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 region near TERC, and we identified seven newly associated loci (Pmeta = 2.4 × 10(-8) to 1.1 × 10(-19)), including FAM13A (4q22), DSP (6p24), OBFC1 (10q24), ATP11A (13q34), DPP9 (19p13) and chromosomal regions 7q22 and 15q14-15. Our results suggest that genes involved in host defense, cell-cell adhesion and DNA repair contribute to risk of fibrotic IIPs.

Published
2013

5. Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3

Author

Cipriani, Valentina, Leung, Hin-Tak, Plagnol, Vincent, Bunce, Catey, Khan, Jane C, Shahid, Humma, Moore, Anthony T, Harding, Simon P, Bishop, Paul N, Hayward, Caroline, Campbell, Susan, Armbrecht, Ana Maria, Dhillon, Baljean, Deary, Ian J, Campbell, Harry, Dunlop, Malcolm, Dominiczak, Anna F, Mann, Samantha S, Jenkins, Sharon A, Webster, Andrew R, Bird, Alan C, Lathrop, Mark, Zelenika, Diana, Souied, Eric H, Sahel, José-Alain, Léveillard, Thierry, Cree, Angela J, Gibson, Jane, Ennis, Sarah, Lotery, Andrew J, Wright, Alan F, Clayton, David G, and Yates, John RW

Subjects
Genetics, Macular Degeneration, Prevention, Aging, Eye Disease and Disorders of Vision, Clinical Research, Human Genome, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Eye, Aged, Aged, 80 and over, Case-Control Studies, Chromosomes, Human, Pair 6, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Immunophilins, Linear Models, Logistic Models, Male, Odds Ratio, Polymorphism, Single Nucleotide, Principal Component Analysis, Proto-Oncogene Proteins, Receptor, Notch4, Receptors, Notch, Sequence Analysis, DNA, Tacrolimus Binding Proteins, Tenascin, French AMD Investigators, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Age-related macular degeneration (AMD) is a leading cause of visual loss in Western populations. Susceptibility is influenced by age, environmental and genetic factors. Known genetic risk loci do not account for all the heritability. We therefore carried out a genome-wide association study of AMD in the UK population with 893 cases of advanced AMD and 2199 controls. This showed an association with the well-established AMD risk loci ARMS2 (age-related maculopathy susceptibility 2)-HTRA1 (HtrA serine peptidase 1) (P =2.7 × 10(-72)), CFH (complement factor H) (P =2.3 × 10(-47)), C2 (complement component 2)-CFB (complement factor B) (P =5.2 × 10(-9)), C3 (complement component 3) (P =2.2 × 10(-3)) and CFI (P =3.6 × 10(-3)) and with more recently reported risk loci at VEGFA (P =1.2 × 10(-3)) and LIPC (hepatic lipase) (P =0.04). Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at TNXB (tenascin XB)-FKBPL (FK506 binding protein like) [rs12153855/rs9391734; discovery P =4.3 × 10(-7), replication P =3.0 × 10(-4), combined P =1.3 × 10(-9), odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3-1.6] and the neighbouring gene NOTCH4 (Notch 4) (rs2071277; discovery P =3.2 × 10(-8), replication P =3.8 × 10(-5), combined P =2.0 × 10(-11), OR = 1.3, 95% CI = 1.2-1.4). These associations remained significant in conditional analyses which included the adjacent C2-CFB locus. TNXB, FKBPL and NOTCH4 are all plausible AMD susceptibility genes, but further research will be needed to identify the causal variants and determine whether any of these genes are involved in the pathogenesis of AMD.

Published
2012

6. Development and implementation of a highly-multiplexed SNP array for genetic mapping in maritime pine and comparative mapping with loblolly pine.

Author

Chancerel, Emilie, Lepoittevin, Camille, Le Provost, Grégoire, Lin, Yao-Cheng, Jaramillo-Correa, Juan, Eckert, Andrew J, Wegrzyn, Jill L, Zelenika, Diana, Boland, Anne, Frigerio, Jean-Marc, Chaumeil, Philippe, Garnier-Géré, Pauline, Boury, Christophe, Grivet, Delphine, González-Martínez, Santiago C, Rouzé, Pierre, Van de Peer, Yves, Neale, David B, Cervera, Maria T, Kremer, Antoine, and Plomion, Christophe

Abstract

Abstract Background Single nucleotide polymorphisms (SNPs) are the most abundant source of genetic variation among individuals of a species. New genotyping technologies allow examining hundreds to thousands of SNPs in a single reaction for a wide range of applications such as genetic diversity analysis, linkage mapping, fine QTL mapping, association studies, marker-assisted or genome-wide selection. In this paper, we evaluated the potential of highly-multiplexed SNP genotyping for genetic mapping in maritime pine (Pinus pinaster Ait.), the main conifer used for commercial plantation in southwestern Europe. Results We designed a custom GoldenGate assay for 1,536 SNPs detected through the resequencing of gene fragments (707 in vitro SNPs/Indels) and from Sanger-derived Expressed Sequenced Tags assembled into a unigene set (829 in silico SNPs/Indels). Offspring from three-generation outbred (G2) and inbred (F2) pedigrees were genotyped. The success rate of the assay was 63.6% and 74.8% for in silico and in vitro SNPs, respectively. A genotyping error rate of 0.4% was further estimated from segregating data of SNPs belonging to the same gene. Overall, 394 SNPs were available for mapping. A total of 287 SNPs were integrated with previously mapped markers in the G2 parental maps, while 179 SNPs were localized on the map generated from the analysis of the F2 progeny. Based on 98 markers segregating in both pedigrees, we were able to generate a consensus map comprising 357 SNPs from 292 different loci. Finally, the analysis of sequence homology between mapped markers and their orthologs in a Pinus taeda linkage map, made it possible to align the 12 linkage groups of both species. Conclusions Our results show that the GoldenGate assay can be used successfully for high-throughput SNP genotyping in maritime pine, a conifer species that has a genome seven times the size of the human genome. This SNP-array will be extended thanks to recent sequencing effort using new generation sequencing technologies and will include SNPs from comparative orthologous sequences that were identified in the present study, providing a wider collection of anchor points for comparative genomics among the conifers.

Published
2011

15. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Author

Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, and Chelly, Jamel

Published
2013
Full Text
View/download PDF

16. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

Author

Manning, Alisa K, Hivert, Marie-France, Scott, Robert A, Grimsby, Jonna L, Bouatia-Naji, Nabila, Chen, Han, Rybin, Denis, Liu, Ching-Ti, Bielak, Lawrence F, Prokopenko, Inga, Amin, Najaf, Barnes, Daniel, Cadby, Gemma, Hottenga, Jouke-Jan, Ingelsson, Erik, Jackson, Anne U, Johnson, Toby, Kanoni, Stavroula, Ladenvall, Claes, Lagou, Vasiliki, Lahti, Jari, Lecoeur, Cecile, Liu, Yongmei, Martinez-Larrad, Maria Teresa, Montasser, May E, Navarro, Pau, Perry, John R B, Rasmussen-Torvik, Laura J, Salo, Perttu, Sattar, Naveed, Shungin, Dmitry, Strawbridge, Rona J, Tanaka, Toshiko, van Duijn, Cornelia M, An, Ping, de Andrade, Mariza, Andrews, Jeanette S, Aspelund, Thor, Atalay, Mustafa, Aulchenko, Yurii, Balkau, Beverley, Bandinelli, Stefania, Beckmann, Jacques S, Beilby, John P, Bellis, Claire, Bergman, Richard N, Blangero, John, Boban, Mladen, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L, Boomsma, Dorret I, Borecki, Ingrid B, Böttcher, Yvonne, Bouchard, Claude, Brunner, Eric, Budimir, Danijela, Campbell, Harry, Carlson, Olga, Chines, Peter S, Clarke, Robert, Collins, Francis S, Corbatón-Anchuelo, Arturo, Couper, David, de Faire, Ulf, Dedoussis, George V, Deloukas, Panos, Dimitriou, Maria, Egan, Josephine M, Eiriksdottir, Gudny, Erdos, Michael R, Eriksson, Johan G, Eury, Elodie, Ferrucci, Luigi, Ford, Ian, Forouhi, Nita G, Fox, Caroline S, Franzosi, Maria Grazia, Franks, Paul W, Frayling, Timothy M, Froguel, Philippe, Galan, Pilar, de Geus, Eco, Gigante, Bruna, Glazer, Nicole L, Goel, Anuj, Groop, Leif, Gudnason, Vilmundur, Hallmans, Göran, Hamsten, Anders, Hansson, Ola, Harris, Tamara B, Hayward, Caroline, Heath, Simon, Hercberg, Serge, Hicks, Andrew A, Hingorani, Aroon, Hofman, Albert, Hui, Jennie, Hung, Joseph, Jarvelin, Marjo-Riitta, Jhun, Min A, Johnson, Paul C D, Jukema, J Wouter, Jula, Antti, Kao, W H, Kaprio, Jaakko, Kardia, Sharon L R, Keinanen-Kiukaanniemi, Sirkka, Kivimaki, Mika, Kolcic, Ivana, Kovacs, Peter, Kumari, Meena, Kuusisto, Johanna, Kyvik, Kirsten Ohm, Laakso, Markku, Lakka, Timo, Lannfelt, Lars, Lathrop, G Mark, Launer, Lenore J, Leander, Karin, Li, Guo, Lind, Lars, Lindstrom, Jaana, Lobbens, Stéphane, Loos, Ruth J F, Luan, Jian'an, Lyssenko, Valeriya, Mägi, Reedik, Magnusson, Patrik K E, Marmot, Michael, Meneton, Pierre, Mohlke, Karen L, Mooser, Vincent, Morken, Mario A, Miljkovic, Iva, Narisu, Narisu, O'Connell, Jeff, Ong, Ken K, Oostra, Ben A, Palmer, Lyle J, Palotie, Aarno, Pankow, James S, Peden, John F, Pedersen, Nancy L, Pehlic, Marina, Peltonen, Leena, Penninx, Brenda, Pericic, Marijana, Perola, Markus, Perusse, Louis, Peyser, Patricia A, Polasek, Ozren, Pramstaller, Peter P, Province, Michael A, Räikkönen, Katri, Rauramaa, Rainer, Rehnberg, Emil, Rice, Ken, Rotter, Jerome I, Rudan, Igor, Ruokonen, Aimo, Saaristo, Timo, Sabater-Lleal, Maria, Salomaa, Veikko, Savage, David B, Saxena, Richa, Schwarz, Peter, Seedorf, Udo, Sennblad, Bengt, Serrano-Rios, Manuel, Shuldiner, Alan R, Sijbrands, Eric J G, Siscovick, David S, Smit, Johannes H, Small, Kerrin S, Smith, Nicholas L, Smith, Albert Vernon, Stančáková, Alena, Stirrups, Kathleen, Stumvoll, Michael, Sun, Yan V, Swift, Amy J, Tönjes, Anke, Tuomilehto, Jaakko, Trompet, Stella, Uitterlinden, Andre G, Uusitupa, Matti, Vikström, Max, Vitart, Veronique, Vohl, Marie-Claude, Voight, Benjamin F, Vollenweider, Peter, Waeber, Gerard, Waterworth, Dawn M, Watkins, Hugh, Wheeler, Eleanor, Widen, Elisabeth, Wild, Sarah H, Willems, Sara M, Willemsen, Gonneke, Wilson, James F, Witteman, Jacqueline C M, Wright, Alan F, Yaghootkar, Hanieh, Zelenika, Diana, Zemunik, Tatijana, Zgaga, Lina, Wareham, Nicholas J, McCarthy, Mark I, Barroso, Ines, Watanabe, Richard M, Florez, Jose C, Dupuis, Josée, Meigs, James B, and Langenberg, Claudia

Published
2012
Full Text
View/download PDF

17. Serial translocation by means of circular intermediates underlies colour sidedness in cattle

Author

Durkin, Keith, Coppieters, Wouter, Drogemuller, Cord, Ahariz, Naima, Cambisano, Nadine, Druet, Tom, Fasquelle, Corinne, Haile, Aynalem, Horin, Petr, Huang, Lusheng, Kamatani, Yohichiro, Karim, Latifa, Lathrop, Mark, Moser, Simon, Oldenbroek, Kor, Rieder, Stefan, Sartelet, Arnaud, Solkner, Johann, Stalhammar, Hans, Zelenika, Diana, Zhang, Zhiyan, Leeb, Tosso, Georges, Michel, and Charlier, Carole

Subjects
Pigments -- Genetic aspects, Beef cattle -- Physiological aspects -- Genetic aspects, Translocation (Genetics) -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Colour sidedness is a dominantly inherited phenotype of cattle characterized by the polarization of pigmented sectors on the flanks, snout and ear tips1. It is also referred to as 'lineback' or 'witrik' (which means white back), as colour-sided animals typically display a white band along their spine. Colour sidedness is documented at least since the Middle Ages and is presently segregating in several cattle breeds around the globe, including in Belgian blue and brown Swiss (1,2). Here we report that colour sidedness is determined by a first allele on chromosome 29 ([Cs.sub.29]), which results from the translocation of a 492-kilobase chromosome 6 segment encompassing KIT to chromosome 29, and a second allele on chromosome 6 ([CS.sub.6]), derived from the first by repatriation of fused 575-kilobase chromosome 6 and 29 sequences to the KIT locus. We provide evidence that both translocation events involved circular intermediates. This is the first example, to our knowledge, of a phenotype determined by homologous yet non-syntenic alleles that result from a novel copy-number-variant-generating mechanism., To gain insights into the molecular basis of colour sidedness (Fig. 1), we genotyped 21 colour-sided and 30 control Belgian blue animals with a custom-made 50K single nucleotide polymorphism (SNP) [...]

Published
2012
Full Text
View/download PDF

18. A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Author

Bertolotto, Corine, Lesueur, Fabienne, Giuliano, Sandy, Strub, Thomas, de Lichy, Mahaut, Bille, Karine, Dessen, Philippe, d’Hayer, Benoit, Mohamdi, Hamida, Remenieras, Audrey, Maubec, Eve, de la Fouchardière, Arnaud, Molinié, Vincent, Vabres, Pierre, Dalle, Stéphane, Poulalhon, Nicolas, Martin-Denavit, Tanguy, Thomas, Luc, Andry-Benzaquen, Pascale, Dupin, Nicolas, Boitier, Françoise, Rossi, Annick, Perrot, Jean-Luc, Labeille, Bruno, Robert, Caroline, Escudier, Bernard, Caron, Olivier, Brugières, Laurence, Saule, Simon, Gardie, Betty, Gad, Sophie, Richard, Stéphane, Couturier, Jérôme, Teh, Bin Tean, Ghiorzo, Paola, Pastorino, Lorenza, Puig, Susana, Badenas, Celia, Olsson, Hakan, Ingvar, Christian, Rouleau, Etienne, Lidereau, Rosette, Bahadoran, Philippe, Vielh, Philippe, Corda, Eve, Blanché, Hélène, Zelenika, Diana, Galan, Pilar, Chaudru, Valérie, Lenoir, Gilbert M., Lathrop, Mark, Davidson, Irwin, Avril, Marie-Françoise, Demenais, Florence, Ballotti, Robert, and Bressac-de Paillerets, Brigitte

Published
2011
Full Text
View/download PDF

20. Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci

Author

Reeves, Gillian K., Travis, Ruth C., Green, Jane, Bull, Diana, Tipper, Sarah, Baker, Krys, Beral, Valerie, Peto, Richard, Bell, John, Zelenika, Diana, and Lathrop, Mark

Subjects
Breast cancer -- Genetic aspects, Breast cancer -- Diagnosis, Breast cancer -- Risk factors, Genetic susceptibility -- Research, Single nucleotide polymorphisms -- Research
Abstract

A study was conducted to evaluate the risk and incidence of breast cancer and its subtypes in relation to 14 individual and multiple low-penetrance genetic susceptibility loci previously linked to the disease and in relation to polygenic risk score. Results indicated that the polygenic risk score was more predictive in the case of ER-positive breast cancer.

Published
2010

21. A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1

Author

Morange, Pierre-Emmanuel, Bezemer, Irene, Saut, Noemie, Bare, Lance, Burgos, Gwenaelle, Brocheton, Jessy, Durand, Herve, Biron-Andreani, Christine, Schved, Jean-Francois, Pernod, Gilles, Galan, Pilar, Drouet, Ludovic, Zelenika, Diana, Germain, Marine, Nicaud, Viviane, Heath, Simon, Ninio, Ewa, Delluc, Aurelien, Munzel, Thomas, Zeller, Tanja, Brand-Herrmann, Stefan-Martin, Alessi, Marie-Christine, Tiret, Laurence, Lathrop, Mark, Cambien, Francois, Blankenberg, Stefan, Emmerich, Joseph, Tregouet, David-Alexandre, and Rosendaal, Frits R.

Subjects
Human genome -- Research, Single nucleotide polymorphisms -- Analysis, Genetic transcription -- Analysis, Venous thrombosis -- Genetic aspects, Biological sciences
Abstract

A multistage strategy was used to obtain strong evidence for implication of the HIVEP1 locus as a candidate for venous thrombosis (VT) risk. The results provide first evidence for the role of a genetic variant on the risk of VT outside the traditional coagulation/fibrinolysis cascade.

Published
2010

22. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

Author

Gueneau, Lucie, Bertrand, Anne T., Jais, Jean-Philippe, Salih, Mustafa A., Stojkovic, Tanya, Wehnert, Manfred, Hoeltzenbein, Maria, Spuler, Simone, Saitoh, Shinji, Verschueren, Annie, Tranchant, Christine, Beuvin, Maud, Lacene, Emmanuelle, Romero, Norma B., Heath, Simon, Zelenika, Diana, Voit, Thomas, Eymard, Bruno, Yaou, Rabah Ben, and Bonne, Gisele

Subjects
Muscular dystrophy -- Genetic aspects, Gene mutations -- Analysis, Exon (Molecular genetics) -- Structure, Cardiomyopathy -- Genetic aspects, Heart diseases -- Genetic aspects, Biological sciences
Abstract

A whole-genome scan of families affected by Emery-Dreifuss muscular dystrophy (EDMD) is conducted and its linkage to Xq26.3 locus containing the FHL1 gene is identified, along with seven mutations in the distal exons of FHL1. The reduced levels of FHL1 proteins in EDMD patients, which are associated with a severe delay in myotube formation, suggest that FHL1 gene is associated with both the X-linked EDMD phenotype and hypertrophic myopathy.

Published
2009

23. Effect of 17q21 variants and smoking exposure in early-onset asthma

Author

Bouzigon, Emmanuelle, Corda, Eve, Aschard, Hughes, Dizier, Marie-Helene, Boland, Anne, Bousquet, Jean, Chateigner, Nicolas, Gormand, Frederic, Just, Jocelyne, Le Moual, Nicole, Scheinmann, Pierre, Siroux, Valerie, Vervloet, Daniel, Zelenika, Diana, Pin, Isabelle, Kauffmann, Francine, Lathrop, Mark, and Demenais, Florence

Subjects
Human chromosome 21 -- Research, Asthma -- Risk factors, Asthma -- Causes of, Tobacco products -- Health aspects
Abstract

A study was conducted to establish an association between variants at chromosome 17q21 as well as exposure to smoking on early onset of asthma. Results indicated that there is an increased risk of early-onset asthma due to 17q21 chromosome variants and also exposure to tobacco products.

Published
2008

24. Fine mapping of quantitative trait loci affecting female fertility in dairy cattle on BTA03 using a dense single-nucleotide polymorphism map

Author

Druet, Tom, Fritz, Sebastien, Boussaha, Mekki, Ben-Jemaa, Slim, Guillaume, Francois, Derbala, David, Zelenika, Diana, Lechner, Doris, Charon, Celine, Boichard, Didier, Gut, Ivo G., Eggen, Andre, and Gautier, Mathieu

Subjects
Quantitative trait loci -- Identification and classification, Chromosome mapping -- Methods, Fertility -- Genetic aspects, Single nucleotide polymorphisms -- Identification and classification, Dairy cattle -- Genetic aspects, Quantitative genetics -- Research, Biological sciences
Abstract

Fertility quantitative trait loci (QTL) are of high interest in dairy cattle since insemination failure has dramatically increased in some breeds such as Holstein. High-throughput SNP analysis and SNP microarrays give the opportunity to genotype many animals for hundreds SNPs per chromosome. In this study, due to these techniques a dense SNP marker map was used to fine map a QTL underlying nonreturn rate measured 90 days after artificial insemination previously detected with a low-density microsatellite marker map. A granddaughter design with 17 Holstein half-sib families (926 offspring) was genotyped for a set of 437 SNPs mapping to BTA3. Linkage analysis was performed by both regression and variance components analysis. An additional analysis combining both linkage analysis and linkage-disequilibrium information was applied. This method first estimated identity-by-descent probabilities among base haplotypes. These probabilities were then used to group the base haplotypes in different clusters. A QTL explaining 14% of the genetic variance was found with high significance (P < 0.001) at position 19 cM with the linkage analysis and four sires were estimated to be heterozygous (P < 0.05). Addition of linkage-disequilibrium information refined the QTL position to a set of narrow peaks. The use of the haplotypes of heterozygous sires offered the possibility to give confidence in some peaks while others could be discarded. Two peaks with high likelihood-ratio test values in the region of which heterozygous sires shared a common haplotype appeared particularly interesting. Despite the fact that the analysis did not fine map the QTL in a unique narrow region, the method proved to be able to handle efficiently and automatically a large amount of information and to refine the QTL position to a small set of narrow intervals. In addition, the QTL identified was confirmed to have a large effect (explaining 13.8% of the genetic variance) on dairy cow fertility as estimated by nonreturn rate at 90 days.

Published
2008

25. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene

Author

Kayser, Manfred, Fan Liu, Janssens, A. Cecile J.W., Rivadeneira, Fernando, Lao, Oscar, van Duijn, Kate, Vermeulen, Mark, Arp, Pascal, Jhamai, Mila M., van Ijcken, Wilfred F.J., den Dunnen, Johan T., Heath, Simon, Zelenika, Diana, Despriet, Dominiek D.G., Klaver, Caroline C.W., Vingerling, Johannes R., de Jong, Paulus T.V.M., Hofman, Albert, Aulchenko, Yurii S., Uitterlinden, Andre G., Oostra, Ben A., and van Duijn, Cornelia M.

Subjects
Color of eyes -- Research, Color of eyes -- Genetic aspects, Genomics -- Usage, Genetic variation -- Observations, Biological sciences
Abstract

Three genome-wide analyses are conducted to establish the HERC2 gene as a new and potential determinant of the human iris color gene variation.

Published
2008

28. Deciphering the 8q24.21 association for glioma

Author

Enciso-Mora, Victor, Hosking, Fay J., Kinnersley, Ben, Wang, Yufei, Shete, Sanjay, Zelenika, Diana, Broderick, Peter, Idbaih, Ahmed, Delattre, Jean-Yves, Hoang-Xuan, Khe, Marie, Yannick, Di Stefano, Anna Luisa, Labussière, Marianne, Dobbins, Sara, Boisselier, Blandine, Ciccarino, Pietro, Rossetto, Marta, Armstrong, Georgina, Liu, Yanhong, Gousias, Konstantinos, Schramm, Johannes, Lau, Ching, Hepworth, Sarah J., Strauch, Konstantin, Müller-Nurasyid, Martina, Schreiber, Stefan, Franke, Andre, Moebus, Susanne, Eisele, Lewin, Forsti, Asta, Hemminki, Kari, Tomlinson, Ian P., Swerdlow, Anthony, Lathrop, Mark, Simon, Matthias, Bondy, Melissa, Sanson, Marc, and Houlston, Richard S

Published
2013
Full Text
View/download PDF

29. Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

Author

Cordell, Heather J., Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V., Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J., Ayers, Kristin L., Rahman, Thahira J., Hall, Darroch, Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Brook, J. David, Setchfield, Kerry, BuʼLock, Frances A., Thornborough, Chris, OʼSullivan, John, Stuart, A. Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Moorman, Antoon F.M., Rauch, Anita, Lathrop, G. Mark, Keavney, Bernard D., and Goodship, Judith A.

Published
2013
Full Text
View/download PDF

31. Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein–Barr Virus Status–Defined Subgroups

Author

Urayama, Kevin Y., Jarrett, Ruth F., Hjalgrim, Henrik, Diepstra, Arjan, Kamatani, Yoichiro, Chabrier, Amelie, Gaborieau, Valerie, Boland, Anne, Nieters, Alexandra, Becker, Nikolaus, Foretova, Lenka, Benavente, Yolanda, Maynadié, Marc, Staines, Anthony, Shield, Lesley, Lake, Annette, Montgomery, Dorothy, Taylor, Malcolm, Smedby, Karin Ekström, Amini, Rose-Marie, Adami, Hans-Olov, Glimelius, Bengt, Feenstra, Bjarke, Nolte, Ilja M., Visser, Lydia, van Imhoff, Gustaaf W., Lightfoot, Tracy, Cocco, Pierluigi, Kiemeney, Lambertus, Vermeulen, Sita H., Holcatova, Ivana, Vatten, Lars, Macfarlane, Gary J., Thomson, Peter, Conway, David I., Benhamou, Simone, Agudo, Antonio, Healy, Claire M., Overvad, Kim, Tjønneland, Anne, Melin, Beatrice, Canzian, Federico, Khaw, Kay-Tee, Travis, Ruth C., Peeters, Petra H. M., González, Carlos A., Quirós, José Ramón, Sánchez, María-José, Huerta, José María, Ardanaz, Eva, Dorronsoro, Miren, Clavel-Chapelon, Françoise, Bueno-de-Mesquita, H. Bas, Riboli, Elio, Roman, Eve, Boffetta, Paolo, de Sanjosé, Silvia, Zelenika, Diana, Melbye, Mads, van den Berg, Anke, Lathrop, Mark, Brennan, Paul, and McKay, James D.

Published
2012
Full Text
View/download PDF

32. A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

Author

Wu, Xifeng, Scelo, Ghislaine, Purdue, Mark P., Rothman, Nathaniel, Johansson, Mattias, Ye, Yuanqing, Wang, Zhaoming, Zelenika, Diana, Moore, Lee E., Wood, Christopher G., Prokhortchouk, Egor, Gaborieau, Valerie, Jacobs, Kevin B., Chow, Wong-Ho, Toro, Jorge R., Zaridze, David, Lin, Jie, Lubinski, Jan, Trubicka, Joanna, Szeszenia-Dabrowska, Neonilia, Lissowska, Jolanta, Rudnai, Peter, Fabianova, Eleonora, Mates, Dana, Jinga, Viorel, Bencko, Vladimir, Slamova, Alena, Holcatova, Ivana, Navratilova, Marie, Janout, Vladimir, Boffetta, Paolo, Colt, Joanne S., Davis, Faith G., Schwartz, Kendra L., Banks, Rosamonde E., Selby, Peter J., Harnden, Patricia, Berg, Christine D., Hsing, Ann W., Grubb, Robert L., III, Boeing, Heiner, Vineis, Paolo, Clavel-Chapelon, Françoise, Palli, Domenico, Tumino, Rosario, Krogh, Vittorio, Panico, Salvatore, Duell, Eric J., Quirós, José Ramón, Sanchez, Maria-José, Navarro, Carmen, Ardanaz, Eva, Dorronsoro, Miren, Khaw, Kay-Tee, Allen, Naomi E., Bueno-de-Mesquita, H. Bas, Peeters, Petra H.M., Trichopoulos, Dimitrios, Linseisen, Jakob, Ljungberg, Börje, Overvad, Kim, Tjønneland, Anne, Romieu, Isabelle, Riboli, Elio, Stevens, Victoria L, Thun, Michael J, Diver, W. Ryan, Gapstur, Susan M., Pharoah, Paul D., Easton, Douglas F., Albanes, Demetrius, Virtamo, Jarmo, Vatten, Lars, Hveem, Kristian, Fletcher, Tony, Koppova, Kvetoslava, Cussenot, Olivier, Cancel-Tassin, Geraldine, Benhamou, Simone, Hildebrandt, Michelle A., Pu, Xia, Foglio, Mario, Lechner, Doris, Hutchinson, Amy, Yeager, Meredith, Fraumeni, Joseph F., Jr, Lathrop, Mark, Skryabin, Konstantin G., McKay, James D., Gu, Jian, Brennan, Paul, and Chanock, Stephen J.

Published
2012
Full Text
View/download PDF

33. Genome-wide association study of HPV seropositivity

Author

Chen, Dan, McKay, James D., Clifford, Gary, Gaborieau, Valérie, Chabrier, Amélie, Waterboer, Tim, Zaridze, David, Lissowska, Jolanta, Rudnai, Peter, Fabianova, Eleonora, Bencko, Vladimir, Janout, Vladimir, Foretova, Lenka, Mates, Ioan Nicolae, Szeszenia-Dabrowska, Neonila, Curado, Maria Paula, Koifman, Sergio, Menezes, Ana, Wünsch-Filho, Victor, Eluf-Neto, José, Fernández Garrote, Leticia, Matos, Elena, Zelenika, Diana, Boland, Anne, Boffetta, Paolo, Pawlita, Michael, Lathrop, Mark, and Brennan, Paul

Published
2011
Full Text
View/download PDF

34. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

Author

Ehret, Georg B., Munroe, Patricia B., Rice, Kenneth M., Bochud, Murielle, Johnson, Andrew D., Chasman, Daniel I., Smith, Albert V., Tobin, Martin D., Verwoert, Germaine C., Hwang, Shih-Jen, Pihur, Vasyl, Vollenweider, Peter, O’Reilly, Paul F., Amin, Najaf, Bragg-Gresham, Jennifer L., Teumer, Alexander, Glazer, Nicole L., Launer, Lenore, Zhao, Jing Hua, Aulchenko, Yurii, Heath, Simon, Sõber, Siim, Parsa, Afshin, Luan, Jian’an, Arora, Pankaj, Dehghan, Abbas, Zhang, Feng, Lucas, Gavin, Hicks, Andrew A., Jackson, Anne U., Peden, John F, Tanaka, Toshiko, Wild, Sarah H., Rudan, Igor, Igl, Wilmar, Milaneschi, Yuri, Parker, Alex N., Fava, Cristiano, Chambers, John C., Fox, Ervin R., Kumari, Meena, Go, Min Jin, van der Harst, Pim, Kao, Wen Hong Linda, Sjögren, Marketa, Vinay, D. G., Alexander, Myriam, Tabara, Yasuharu, Shaw-Hawkins, Sue, Whincup, Peter H., Liu, Yongmei, Shi, Gang, Kuusisto, Johanna, Tayo, Bamidele, Seielstad, Mark, Sim, Xueling, Nguyen, Khanh-Dung Hoang, Lehtimäki, Terho, Matullo, Giuseppe, Wu, Ying, Gaunt, Tom R., Onland-Moret, Charlotte N., Cooper, Matthew N., Platou, Carl G. P., Org, Elin, Hardy, Rebecca, Dahgam, Santosh, Palmen, Jutta, Vitart, Veronique, Braund, Peter S., Kuznetsova, Tatiana, Uiterwaal, Cuno S. P. M., Adeyemo, Adebowale, Palmas, Walter, Campbell, Harry, Ludwig, Barbara, Tomaszewski, Maciej, Tzoulaki, Ioanna, Palmer, Nicholette D., Aspelund, Thor, Garcia, Melissa, Chang, Yen-Pei C., O’Connell, Jeffrey R., Steinle, Nanette I., Grobbee, Diederick E., Arking, Dan E., Kardia, Sharon L., Morrison, Alanna C., Hernandez, Dena, Najjar, Samer, McArdle, Wendy L., Hadley, David, Brown, Morris J., Connell, John M., Hingorani, Aroon D., Day, Ian N.M., Lawlor, Debbie A., Beilby, John P., Lawrence, Robert W., Clarke, Robert, Hopewell, Jemma C., Ongen, Halit, Dreisbach, Albert W., Li, Yali, Young, Hunter J., Bis, Joshua C., Kähönen, Mika, Viikari, Jorma, Adair, Linda S., Lee, Nanette R., Chen, Ming-Huei, Olden, Matthias, Pattaro, Cristian, Bolton, Judith A. Hoffman, Köttgen, Anna, Bergmann, Sven, Mooser, Vincent, Chaturvedi, Nish, Frayling, Timothy M., Islam, Muhammad, Jafar, Tazeen H., Erdmann, Jeanette, Kulkarni, Smita R., Bornstein, Stefan R., Grässler, Jürgen, Groop, Leif, Voight, Benjamin F., Kettunen, Johannes, Howard, Philip, Taylor, Andrew, Guarrera, Simonetta, Ricceri, Fulvio, Emilsson, Valur, Plump, Andrew, Barroso, Inês, Khaw, Kay-Tee, Weder, Alan B., Hunt, Steven C., Sun, Yan V., Bergman, Richard N., Collins, Francis S., Bonnycastle, Lori L., Scott, Laura J., Stringham, Heather M., Peltonen, Leena, Perola, Markus, Vartiainen, Erkki, Brand, Stefan-Martin, Staessen, Jan A., Wang, Thomas J., Burton, Paul R., Artigas, Maria Soler, Dong, Yanbin, Snieder, Harold, Wang, Xiaoling, Zhu, Haidong, Lohman, Kurt K., Rudock, Megan E., Heckbert, Susan R., Smith, Nicholas L., Wiggins, Kerri L., Doumatey, Ayo, Shriner, Daniel, Veldre, Gudrun, Viigimaa, Margus, Kinra, Sanjay, Prabhakaran, Dorairaj, Tripathy, Vikal, Langefeld, Carl D., Rosengren, Annika, Thelle, Dag S., Corsi, Anna Maria, Singleton, Andrew, Forrester, Terrence, Hilton, Gina, McKenzie, Colin A., Salako, Tunde, Iwai, Naoharu, Kita, Yoshikuni, Ogihara, Toshio, Ohkubo, Takayoshi, Okamura, Tomonori, Ueshima, Hirotsugu, Umemura, Satoshi, Eyheramendy, Susana, Meitinger, Thomas, Wichmann, Erich H., Cho, Yoon Shin, Kim, Hyung-Lae, Lee, Jong-Young, Scott, James, Sehmi, Joban S., Zhang, Weihua, Hedblad, Bo, Nilsson, Peter, Smith, George Davey, Wong, Andrew, Narisu, Narisu, Stančáková, Alena, Raffel, Leslie J., Yao, Jie, Kathiresan, Sekar, O’Donnell, Christopher J., Schwartz, Stephen M., Ikram, Arfan M., Longstreth, W. T., Jr, Mosley, Thomas H., Seshadri, Sudha, Shrine, Nick R.G., Wain, Louise V., Morken, Mario A., Swift, Amy J., Laitinen, Jaana, Prokopenko, Inga, Zitting, Paavo, Cooper, Jackie A., Humphries, Steve E., Danesh, John, Rasheed, Asif, Goel, Anuj, Hamsten, Anders, Watkins, Hugh, Bakker, Stephan J. L., van Gilst, Wiek H., Janipalli, Charles S., Mani, Radha K., Yajnik, Chittaranjan S., Hofman, Albert, Mattace-Raso, Francesco U. S., Oostra, Ben A., Demirkan, Ayse, Isaacs, Aaron, Rivadeneira, Fernando, Lakatta, Edward G., Orru, Marco, Scuteri, Angelo, Ala-Korpela, Mika, Kangas, Antti J., Lyytikäinen, Leo-Pekka, Soininen, Pasi, Tukiainen, Taru, Würtz, Peter, Ong, Rick Twee-Hee, Dörr, Marcus, Kroemer, Heyo K., Völker, Uwe, Völzke, Henry, Galan, Pilar, Hercberg, Serge, Lathrop, Mark, Zelenika, Diana, Deloukas, Panos, Mangino, Massimo, Spector, Tim D., Zhai, Guangju, Meschia, James F., Nalls, Michael A., Sharma, Pankaj, Terzic, Janos, Kumar, Kranthi M. V., Denniff, Matthew, Zukowska-Szczechowska, Ewa, Wagenknecht, Lynne E., Fowkes, Gerald F.R., Charchar, Fadi J., Schwarz, Peter E. H., Hayward, Caroline, Guo, Xiuqing, Rotimi, Charles, Bots, Michiel L., Brand, Eva, Samani, Nilesh J., Polasek, Ozren, Talmud, Philippa J., Nyberg, Fredrik, Kuh, Diana, Laan, Maris, Hveem, Kristian, Palmer, Lyle J., van der Schouw, Yvonne T., Casas, Juan P., Mohlke, Karen L., Vineis, Paolo, Raitakari, Olli, Ganesh, Santhi K., Wong, Tien Y., Tai, Shyong E, Cooper, Richard S., Laakso, Markku, Rao, Dabeeru C., Harris, Tamara B., Morris, Richard W., Dominiczak, Anna F., Kivimaki, Mika, Marmot, Michael G., Miki, Tetsuro, Saleheen, Danish, Chandak, Giriraj R., Coresh, Josef, Navis, Gerjan, Salomaa, Veikko, Han, Bok-Ghee, Zhu, Xiaofeng, Kooner, Jaspal S., Melander, Olle, Ridker, Paul M, Bandinelli, Stefania, Gyllensten, Ulf B., Wright, Alan F., Wilson, James F., Ferrucci, Luigi, Farrall, Martin, Tuomilehto, Jaakko, Pramstaller, Peter P., Elosua, Roberto, Soranzo, Nicole, Sijbrands, Eric J. G., Altshuler, David, Loos, Ruth J. F., Shuldiner, Alan R., Gieger, Christian, Meneton, Pierre, Uitterlinden, Andre G., Wareham, Nicholas J., Gudnason, Vilmundur, Rotter, Jerome I., Rettig, Rainer, Uda, Manuela, Strachan, David P., Witteman, Jacqueline C. M., Hartikainen, Anna-Liisa, Beckmann, Jacques S., Boerwinkle, Eric, Vasan, Ramachandran S., Boehnke, Michael, Larson, Martin G., Järvelin, Marjo-Riitta, Psaty, Bruce M., Abecasis, Gonçalo R., Chakravarti, Aravinda, Elliott, Paul, van Duijn, Cornelia M., Newton-Cheh, Christopher, Levy, Daniel, Caulfield, Mark J., and Johnson, Toby

Published
2011
Full Text
View/download PDF

35. Chromosome 7p11.2 (EGFR) variation influences glioma risk

Author

Sanson, Marc, Hosking, Fay J., Shete, Sanjay, Zelenika, Diana, Dobbins, Sara E., Ma, Yussanne, Enciso-Mora, Victor, Idbaih, Ahmed, Delattre, Jean-Yves, Hoang-Xuan, Khe, Marie, Yannick, Boisselier, Blandine, Carpentier, Catherine, Wang, Xiao-Wei, Di Stefano, Anna Luisa, Labussière, Marianne, Gousias, Konstantinos, Schramm, Johannes, Boland, Anne, Lechner, Doris, Gut, Ivo, Armstrong, Georgina, Liu, Yanhong, Yu, Robert, Lau, Ching, Di Bernardo, Maria Chiara, Robertson, Lindsay B., Muir, Kenneth, Hepworth, Sarah, Swerdlow, Anthony, Schoemaker, Minouk J, Wichmann, H.-Erich, Müller, Martina, Schreiber, Stefan, Franke, Andre, Moebus, Susanne, Eisele, Lewin, Försti, Asta, Hemminki, Kari, Lathrop, Mark, Bondy, Melissa, Houlston, Richard S., and Simon, Matthias

Published
2011
Full Text
View/download PDF

36. Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study

Author

Fox, Ervin R., Young, J. Hunter, Li, Yali, Dreisbach, Albert W., Keating, Brendan J., Musani, Solomon K., Liu, Kiang, Morrison, Alanna C., Ganesh, Santhi, Kutlar, Abdullah, Ramachandran, Vasan S., Polak, Josef F., Fabsitz, Richard R., Dries, Daniel L., Farlow, Deborah N., Redline, Susan, Adeyemo, Adebowale, Hirschorn, Joel N., Sun, Yan V., Wyatt, Sharon B., Penman, Alan D., Palmas, Walter, Rotter, Jerome I., Townsend, Raymond R., Doumatey, Ayo P., Tayo, Bamidele O., Mosley, Thomas H., Jr, Lyon, Helen N., Kang, Sun J., Rotimi, Charles N., Cooper, Richard S., Franceschini, Nora, Curb, J. David, Martin, Lisa W., Eaton, Charles B., Kardia, Sharon L.R., Taylor, Herman A., Caulfield, Mark J., Ehret, Georg B., Johnson, Toby, Munroe, Patricia B., Rice, Kenneth M., Bochud, Murielle, Johnson, Andrew D., Chasman, Daniel I., Smith, Albert V., Tobin, Martin D., Verwoert, Germaine C., Hwang, Shih-Jen, Pihur, Vasyl, Vollenweider, Peter, OʼReilly, Paul F., Amin, Najaf, Bragg-Gresham, Jennifer L., Teumer, Alexander, Glazer, Nicole L., Launer, Lenore, Zhao, Jing Hua, Aulchenko, Yurii, Heath, Simon, Sõber, Siim, Parsa, Afshin, Luan, Jianʼan, Arora, Pankaj, Dehghan, Abbas, Zhang, Feng, Lucas, Gavin, Hicks, Andrew A., Jackson, Anne U., Peden, John F., Tanaka, Toshiko, Wild, Sarah H., Rudan, Igor, Igl, Wilmar, Milaneschi, Yuri, Parker, Alex N., Fava, Cristiano, Chambers, John C., Kumari, Meena, JinGo, Min, van der Harst, Pim, Kao, Wen Hong Linda, Sjögren, Marketa, Vinay, D.G., Alexander, Myriam, Tabara, Yasuharu, Shaw-Hawkins, Sue, Whincup, Peter H., Liu, Yongmei, Shi, Gang, Kuusisto, Johanna, Seielstad, Mark, Sim, Xueling, Nguyen, Khanh-Dung Hoang, Lehtimäki, Terho, Matullo, Giuseppe, Wu, Ying, Gaunt, Tom R., Charlotte Onland-Moret, N., Cooper, Matthew N., Platou, Carl G.P., Org, Elin, Hardy, Rebecca, Dahgam, Santosh, Palmen, Jutta, Vitart, Veronique, Braund, Peter S., Kuznetsova, Tatiana, Uiterwaal, Cuno S.P.M., Campbell, Harry, Ludwig, Barbara, Tomaszewski, Maciej, Tzoulaki, Ioanna, Palmer, Nicholette D., Aspelund, Thor, Garcia, Melissa, Chang, Yen-Pei C., OʼConnell, Jeffrey R., Steinle, Nanette I., Grobbee, Diederick E., Arking, Dan E., Hernandez, Dena, Najjar, Samer, McArdle, Wendy L., Hadley, David, Brown, Morris J., Connell, John M., Hingorani, Aroon D., Day, Ian N.M., Lawlor, Debbie A., Beilby, John P., Lawrence, Robert W., Clarke, Robert, Collins, Rory, Hopewell, Jemma C., Ongen, Halit, Bis, Joshua C., Kähönen, Mika, Viikari, Jorma, Adair, Linda S., Lee, Nanette R., Chen, Ming-Huei, Olden, Matthias, Pattaro, Cristian, Hoffman Bolton, Judith A., Köttgen, Anna, Bergmann, Sven, Mooser, Vincent, Chaturvedi, Nish, Frayling, Timothy M., Islam, Muhammad, Jafar, Tazeen H., Erdmann, Jeanette, Kulkarni, Smita R., Bornstein, Stefan R., Grässler, Jürgen, Groop, Leif, Voight, Benjamin F., Kettunen, Johannes, Howard, Philip, Taylor, Andrew, Guarrera, Simonetta, Ricceri, Fulvio, Emilsson, Valur, Plump, Andrew, Barroso, Inês, Khaw, Kay-Tee, Weder, Alan B., Hunt, Steven C., Bergman, Richard N., Collins, Francis S., Bonnycastle, Lori L., Scott, Laura J., Stringham, Heather M., Peltonen, Leena, Perola, Markus, Vartiainen, Erkki, Brand, Stefan-Martin, Staessen, Jan A., Wang, Thomas J., Burton, Paul R., SolerArtigas, Maria, Dong, Yanbin, Snieder, Harold, Wang, Xiaoling, Zhu, Haidong, Lohman, Kurt K., Rudock, Megan E., Heckbert, Susan R., Smith, Nicholas L., Wiggins, Kerri L., Shriner, Daniel, Veldre, Gudrun, Viigimaa, Margus, Kinra, Sanjay, Prabhakaran, Dorairajan, Tripathy, Vikal, Langefeld, Carl D., Rosengren, Annika, Thelle, Dag S., MariaCorsi, Anna, Singleton, Andrew, Forrester, Terrence, Hilton, Gina, McKenzie, Colin A., Salako, Tunde, Iwai, Naoharu, Kita, Yoshikuni, Ogihara, Toshio, Ohkubo, Takayoshi, Okamura, Tomonori, Ueshima, Hirotsugu, Umemura, Satoshi, Eyheramendy, Susana, Meitinger, Thomas, Wichmann, H.-Erich, Cho, Yoon Shin, Kim, Hyung-Lae, Lee, Jong-Young, Scott, James, Sehmi, Joban S., Zhang, Weihua, Hedblad, Bo, Nilsson, Peter, Smith, George Davey, Wong, Andrew, Narisu, Narisu, Stančáková, Alena, Raffel, Leslie J., Yao, Jie, Kathiresan, Sekar, OʼDonnell, Chris, Schwartz, Steven M., Arfan Ikram, M., Longstreth, Will T., Jr, Seshadri, Sudha, Shrine, Nick R.G., Wain, Louise V., Morken, Mario A., Swift, Amy J., Laitinen, Jaana, Prokopenko, Inga, Zitting, Paavo, Cooper, Jackie A., Humphries, Steve E., Danesh, John, Rasheed, Asif, Goel, Anuj, Hamsten, Anders, Watkins, Hugh, Bakker, Stephan J.L., van Gilst, Wiek H., Janipalli, Charles S., Radha Mani, K., Yajnik, Chittaranjan S., Hofman, Albert, Mattace-Raso, Francesco U.S., Oostra, Ben A., Demirkan, Ayse, Isaacs, Aaron, Rivadeneira, Fernando, Lakatta, Edward G., Orru, Marco, Scuteri, Angelo, Ala-Korpela, Mika, Kangas, Antti J., Lyytikäinen, Leo-Pekka, Soininen, Pasi, Tukiainen, Taru, Würz, Peter, Twee-Hee Ong, Rick, Dörr, Marcus, Kroemer, Heyo K., Völker, Uwe, Völzke, Henry, Galan, Pilar, Hercberg, Serge, Lathrop, Mark, Zelenika, Diana, Deloukas, Panos, Mangino, Massimo, Spector, Tim D., Zhai, Guangju, Meschia, James F., Nalls, Michael A., Sharma, Pankaj, Terzic, Janos, Kranthi Kumar, M.J., Denniff, Matthew, Zukowska-Szczechowska, Ewa, Wagenknecht, Lynne E., Fowkes, Gerald R., Charchar, Fadi J., Schwarz, Peter E.H., Hayward, Caroline, Guo, Xiuqing, Bots, Michiel L., Brand, Eva, Samani, Nilesh J., Polasek, Ozren, Talmud, Philippa J., Nyberg, Fredrik, Kuh, Diana, Laan, Maris, Hveem, Kristian, Palmer, Lyle J., van der Schouw, Yvonne T., Casas, Juan P., Mohlke, Karen L., Vineis, Paolo, Raitakari, Olli, Wong, Tien Y., Shyong Tai, E., Laakso, Markku, Rao, Dabeeru C., Harris, Tamara B., Morris, Richard W., Dominiczak, Anna F., Kivimaki, Mika, Marmot, Michael G., Miki, Tetsuro, Saleheen, Danish, Chandak, Giriraj R., Coresh, Josef, Navis, Gerjan, Salomaa, Veikko, Han, Bok-Ghee, Kooner, Jaspal S., Melander, Olle, Ridker, Paul M., Bandinelli, Stefania, Gyllensten, Ulf B., Wright, Alan F., Wilson, James F., Ferrucci, Luigi, Farrall, Martin, Tuomilehto, Jaakko, Pramstaller, Peter P., Elosua, Roberto, Soranzo, Nicole, Sijbrands, Eric J.G., Altshuler, David, Loos, Ruth J.F., Shuldiner, Alan R., Gieger, Christian, Meneton, Pierre, Uitterlinden, Andre G., Wareham, Nicholas J., Gudnason, Vilmundur, Rettig, Rainer, Uda, Manuela, Strachan, David P., Witteman, Jacqueline C.M., Hartikainen, Anna-Liisa, Beckmann, Jacques S., Boerwinkle, Eric, Boehnke, Michael, Larson, Martin G., Järvelin, Marjo-Riitta, Psaty, Bruce M., Abecasis, Gonçalo R., Elliott, Paul, van Duijn, Cornelia M., Newton-Cheh, Christopher, Chakravarti, Aravinda, Zhu, Xiaofeng, and Levy, Daniel

Published
2011
Full Text
View/download PDF

37. Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study

Author

Fletcher, Olivia, Johnson, Nichola, Orr, Nick, Hosking, Fay J., Gibson, Lorna J., Walker, Kate, Zelenika, Diana, Gut, Ivo, Heath, Simon, Palles, Claire, Coupland, Ben, Broderick, Peter, Schoemaker, Minouk, Jones, Michael, Williamson, Jill, Chilcott-Burns, Sarah, Tomczyk, Katarzyna, Simpson, Gemma, Jacobs, Kevin B., Chanock, Stephen J., Hunter, David J., Tomlinson, Ian P., Swerdlow, Anthony, Ashworth, Alan, Ross, Gillian, dos Santos Silva, Isabel, Lathrop, Mark, Houlston, Richard S., and Peto, Julian

Published
2011
Full Text
View/download PDF

38. Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinsonʼs disease in the European population

Author

Saad, Mohamad, Lesage, Suzanne, Saint-Pierre, Aude, Corvol, Jean-Christophe, Zelenika, Diana, Lambert, Jean-Charles, Vidailhet, Marie, Mellick, George D., Lohmann, Ebba, Durif, Franck, Pollak, Pierre, Damier, Philippe, Tison, François, Silburn, Peter A., Tzourio, Christophe, Forlani, Sylvie, Loriot, Marie-Anne, Giroud, Maurice, Helmer, Catherine, Portet, Florence, Amouyel, Philippe, Lathrop, Mark, Elbaz, Alexis, Durr, Alexandra, Martinez, Maria, Brice, Alexis, Agid, Y., Anheim, M., Bonnet, A.-M., Borg, M., Brice, A., Broussolle, E., Corvol, J.-C., Damier, Ph., Destée, A., Dürr, A., Durif, F., Klebe, S., Lohmann, E., Martinez, M., Penet, C., Pollak, P., Rascol, O., Tison, F., Tranchant, C., Vérin, M., Viallet, F., and Vidailhet, M.

Published
2011
Full Text
View/download PDF

40. A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25

Author

Hung, Rayjean J., McKay, James D., Gaborieau, Valerie, Boffetta, Paolo, Hashibe, Mia, Zaridze, David, Mukeria, Anush, Szeszenia-Dabrowska, Neonilia, Lissowska, Jolanta, Rudnai, Peter, Fabianova, Eleonora, Mates, Dana, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Chen, Chu, Goodman, Gary, Field, John K., Liloglou, Triantafillos, Xinarianos, George, Cassidy, Adrian, McLaughlin, John, Liu, Geoffrey, Narod, Steven, Krokan, Hans E., Skorpen, Frank, Elvestad, Maiken Bratt, Hveem, Kristian, Vatten, Lars, Linseisen, Jakob, Clavel-Chapelon, Françoise, Vineis, Paolo, Bueno-de-Mesquita, H. Bas, Lund, Eiliv, Martinez, Carmen, Bingham, Sheila, Rasmuson, Torgny, Hainaut, Pierre, Riboli, Elio, Ahrens, Wolfgang, Benhamou, Simone, Lagiou, Pagona, Trichopoulos, Dimitrios, Holcátová, Ivana, Merletti, Franco, Kjaerheim, Kristina, Agudo, Antonio, Macfarlane, Gary, Talamini, Renato, Simonato, Lorenzo, Lowry, Ray, Conway, David I., Znaor, Ariana, Healy, Claire, Zelenika, Diana, Boland, Anne, Delepine, Marc, Foglio, Mario, Lechner, Doris, Matsuda, Fumihiko, Blanche, Helene, Gut, Ivo, Heath, Simon, Lathrop, Mark, and Brennan, Paul

Published
2008
Full Text
View/download PDF

41. Association Analysis Indicates That a Variant GATA-Binding Site in the PIK3CB Promoter Is a Cis-Acting Expression Quantitative Trait Locus for This Gene and Attenuates Insulin Resistance in Obese Children

Author

Le Stunff, Catherine, Dechartres, Agnès, Mariot, Virginie, Lotton, Chantal, Trainor, Cecelia, Miraglia Del Giudice, Emanuele, Meyre, David, Bieche, Ivan, Laurendeau, Ingrid, Froguel, Philippe, Zelenika, Diana, Fallin, Dani, Lathrop, Mark, Roméo, Paul-Henri, and Bougnères, Pierre

Published
2008

42. Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Author

Bertolotto, Corine, Lesueur, Fabienne, Giuliano, Sandy, Strub, Thomas, de Lichy, Mahaut, Bille, Karine, Dessen, Philippe, d%apos;Hayer, Benoit, Mohamdi, Hamida, Remenieras, Audrey, Maubec, Eve, de la Fouchardière, Arnaud, Molinié, Vincent, Vabres, Pierre, Dalle, Stéphane, Poulalhon, Nicolas, Martin-Denavit, Tanguy, Thomas, Luc, Andry-Benzaquen, Pascale, Dupin, Nicolas, Boitier, Françoise, Rossi, Annick, Perrot, Jean-Luc, Labeille, Bruno, Robert, Caroline, Escudier, Bernard, Caron, Olivier, Brugières, Laurence, Saule, Simon, Gardie, Betty, Gad, Sophie, Richard, Stéphane, Couturier, Jérôme, Teh, Bin Tean, Ghiorzo, Paola, Pastorino, Lorenza, Puig, Susana, Badenas, Celia, Olsson, Hakan, Ingvar, Christian, Rouleau, Etienne, Lidereau, Rosette, Bahadoran, Philippe, Vielh, Philippe, Corda, Eve, Blanché, Hélène, Zelenika, Diana, Galan, Pilar, Aubin, François, Bachollet, Bertrand, Becuwe, Céline, Berthet, Pascaline, Jean Bignon, Yves, Bonadona, Valérie, Bonafe, Jean-Louis, Bonnet-Dupeyron, Marie-Noëlle, Cambazard, Fréderic, Chevrant-Breton, Jacqueline, Coupier, Isabelle, Dalac, Sophie, Demange, Liliane, d%apos;Incan, Michel, Dugast, Catherine, Faivre, Laurence, Vincent-Fétita, Lynda, Gauthier-Villars, Marion, Gilbert, Brigitte, Grange, Florent, Grob, Jean-Jacques, Humbert, Philippe, Janin, Nicolas, Joly, Pascal, Kerob, Delphine, Lasset, Christine, Leroux, Dominique, Levang, Julien, Limacher, Jean-Marc, Livideanu, Cristina, Longy, Michel, Lortholary, Alain, Stoppa-Lyonnet, Dominique, Mansard, Sandrine, Mansuy, Ludovic, Marrou, Karine, Matéus, Christine, Maugard, Christine, Meyer, Nicolas, Nogues, Catherine, Souteyrand, Pierre, Venat-Bouvet, Laurence, Zattara, Hélène, Chaudru, Valérie, Lenoir, Gilbert M., Lathrop, Mark, Davidson, Irwin, Avril, Marie-Françoise, Demenais, Florence, Ballotti, Robert, and Bressac-de Paillerets, Brigitte

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Corine Bertolotto; Fabienne Lesueur; Sandy Giuliano; Thomas Strub; Mahaut de Lichy; Karine Bille; Philippe Dessen; Benoit d%apos;Hayer; Hamida Mohamdi; Audrey Remenieras; Eve Maubec; Arnaud de la Fouchardière; Vincent Molinié; [...]

Published
2016
Full Text
View/download PDF

45. High-resolution autosomal radiation hybrid maps of the pig genome and their contribution to the genome sequence assembly

Author

Servin Bertrand, Faraut Thomas, Iannuccelli Nathalie, Zelenika Diana, and Milan Denis

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background The release of the porcine genome sequence offers great perspectives for Pig genetics and genomics, and more generally will contribute to the understanding of mammalian genome biology and evolution. The process of producing a complete genome sequence of high quality, while facilitated by high-throughput sequencing technologies, remains a difficult task. The porcine genome was sequenced using a combination of a hierarchical shotgun strategy and data generated with whole genome shotgun. In addition to the BAC contig map used for the clone-by-clone approach, genomic mapping resources for the pig include two radiation hybrid (RH) panels at two different resolutions. These two panels have been used extensively for the physical mapping of pig genes and markers prior to the availability of the pig genome sequence. Results In order to contribute to the assembly of the pig genome, we genotyped the two radiation hybrid (RH) panels with a SNP array (the Illumina porcineSNP60 array) and produced high density physical RH maps for each pig autosome. We first present the methods developed to obtain high density RH maps with 38,379 SNPs from the SNP array genotyping. We then show how they were useful to identify problems in a draft of the pig genome assembly, and how the RH maps enabled the problems to be corrected in the porcine genome sequence. Finally, we used the RH maps to predict the position of 2,703 SNPs and 1,328 scaffolds currently unplaced on the porcine genome assembly. Conclusions A complete process, from genotyping of a high density SNP array on RH panels, to the construction of genome-wide high density RH maps, and finally their exploitation for validating and improving a genome assembly is presented here. The study includes the cross-validation of RH based findings with independent information from genetic data and comparative mapping with the Human genome. Several additional resources are also provided, in particular the predicted genomic location of currently unplaced SNPs and associated scaffolds summing up to a total of 72 megabases, that can be useful for the exploitation of the pig genome assembly.

Published
2012
Full Text
View/download PDF

46. Development and implementation of a highly-multiplexed SNP array for genetic mapping in maritime pine and comparative mapping with loblolly pine

Author

Garnier-Géré Pauline, Chaumeil Philippe, Frigerio Jean-Marc, Boland Anne, Zelenika Diana, Wegrzyn Jill L, Eckert Andrew J, Jaramillo-Correa Juan, Lin Yao-Cheng, Le Provost Grégoire, Lepoittevin Camille, Chancerel Emilie, Boury Christophe, Grivet Delphine, González-Martínez Santiago C, Rouzé Pierre, Van de Peer Yves, Neale David B, Cervera Maria T, Kremer Antoine, and Plomion Christophe

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Single nucleotide polymorphisms (SNPs) are the most abundant source of genetic variation among individuals of a species. New genotyping technologies allow examining hundreds to thousands of SNPs in a single reaction for a wide range of applications such as genetic diversity analysis, linkage mapping, fine QTL mapping, association studies, marker-assisted or genome-wide selection. In this paper, we evaluated the potential of highly-multiplexed SNP genotyping for genetic mapping in maritime pine (Pinus pinaster Ait.), the main conifer used for commercial plantation in southwestern Europe. Results We designed a custom GoldenGate assay for 1,536 SNPs detected through the resequencing of gene fragments (707 in vitro SNPs/Indels) and from Sanger-derived Expressed Sequenced Tags assembled into a unigene set (829 in silico SNPs/Indels). Offspring from three-generation outbred (G2) and inbred (F2) pedigrees were genotyped. The success rate of the assay was 63.6% and 74.8% for in silico and in vitro SNPs, respectively. A genotyping error rate of 0.4% was further estimated from segregating data of SNPs belonging to the same gene. Overall, 394 SNPs were available for mapping. A total of 287 SNPs were integrated with previously mapped markers in the G2 parental maps, while 179 SNPs were localized on the map generated from the analysis of the F2 progeny. Based on 98 markers segregating in both pedigrees, we were able to generate a consensus map comprising 357 SNPs from 292 different loci. Finally, the analysis of sequence homology between mapped markers and their orthologs in a Pinus taeda linkage map, made it possible to align the 12 linkage groups of both species. Conclusions Our results show that the GoldenGate assay can be used successfully for high-throughput SNP genotyping in maritime pine, a conifer species that has a genome seven times the size of the human genome. This SNP-array will be extended thanks to recent sequencing effort using new generation sequencing technologies and will include SNPs from comparative orthologous sequences that were identified in the present study, providing a wider collection of anchor points for comparative genomics among the conifers.

Published
2011
Full Text
View/download PDF

47. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Author

Lacombe Didier, Mom Thierry, Francannet Christine, Duvillard Alain, Thauvin Christel, Dubin Jacques, Bonneau Dominique, Montaut-Verient Bettina, Vigneron Jacqueline, Calais Catherine, David Albert, Eliot Marie-Madeleine, Dollfus Hélène, Vincent Christophe, Delobel Bruno, Weil Dominique, El-Amraoui Aziz, Jonard Laurence, Feldmann Delphine, Zelenika Diana, Délépine Marc, Niasme-Grare Magali, Parodi Marine, Hardelin Jean-Pierre, Levilliers Jacqueline, Marlin Sandrine, Grati M'hamed, Bonnet Crystel, Duriez Françoise, Drouin-Garraud Valérie, Thuillier-Obstoy Marie-Françoise, Sigaudy Sabine, Frances Anne-Marie, Collignon Patrick, Challe Georges, Couderc Rémy, Lathrop Mark, Sahel José-Alain, Weissenbach Jean, Petit Christine, and Denoyelle Françoise

Subjects
Medicine
Abstract

Abstract Background Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for genetic counseling. To date, nine causative genes have been identified for the three clinical subtypes (USH1, USH2 and USH3). Current diagnostic strategies make use of a genotyping microarray that is based on the previously reported mutations. The purpose of this study was to design a more accurate molecular diagnosis tool. Methods We sequenced the 366 coding exons and flanking regions of the nine known USH genes, in 54 USH patients (27 USH1, 21 USH2 and 6 USH3). Results Biallelic mutations were detected in 39 patients (72%) and monoallelic mutations in an additional 10 patients (18.5%). In addition to biallelic mutations in one of the USH genes, presumably pathogenic mutations in another USH gene were detected in seven patients (13%), and another patient carried monoallelic mutations in three different USH genes. Notably, none of the USH3 patients carried detectable mutations in the only known USH3 gene, whereas they all carried mutations in USH2 genes. Most importantly, the currently used microarray would have detected only 30 of the 81 different mutations that we found, of which 39 (48%) were novel. Conclusions Based on these results, complete exon sequencing of the currently known USH genes stands as a definite improvement for molecular diagnosis of this disease, which is of utmost importance in the perspective of gene therapy.

Published
2011
Full Text
View/download PDF

48. A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

Author

Meunier Isabelle, Bocquet Béatrice, Hebrard Maxime, Manes Gaël, Coustes-Chazalette Delphine, Sénéchal Audrey, Bolland-Augé Anne, Zelenika Diana, and Hamel Christian P

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD. Methods Family members underwent detailed ophthalmological examination. Linkage analysis using microsatellite markers and a whole-genome SNP analysis with the use of Affymetrix 250 K SNP chips were performed. Five candidate genes within the candidate region were screened for mutations by direct sequencing. Results We first excluded the involvement of known adRP and adCRD genes in the family by genotyping and linkage analysis. Then, we undertook a whole-genome scan on 22 individuals in the family. The analysis revealed a 41.3-Mb locus on position 2q24.2-2q33.1. This locus was confirmed by linkage analysis with specific markers of this region. The maximum LOD score was 2.86 at θ = 0 for this locus. Five candidate genes, CERKL, BBS5, KLHL23, NEUROD1, and SF3B1 within this locus, were not mutated. Conclusion A novel locus for adCRD, named CORD12, has been mapped to chromosome 2q24.2-2q33.1 in a non consanguineous French family.

Published
2011
Full Text
View/download PDF

49. Complex signatures of selection for the melanogenic loci TYR, TYRP1 and DCT in humans

Author

Boyano María, Zelenika Diana, Díaz-Pérez José, Díaz-Ramón José, Gardeazabal Jesús, Smith-Zubiaga Isabel, Izagirre Neskuts, Alonso Santos, Smit Nico, and de la Rúa Concepción

Subjects
Evolution, QH359-425
Abstract

Abstract Background The observed correlation between ultraviolet light incidence and skin color, together with the geographical apportionment of skin reflectance among human populations, suggests an adaptive value for the pigmentation of the human skin. We have used Affymetrix U133a v2.0 gene expression microarrays to investigate the expression profiles of a total of 9 melanocyte cell lines (5 from lightly pigmented donors and 4 from darkly pigmented donors) plus their respective unirradiated controls. In order to reveal signatures of selection in loci with a bearing on skin pigmentation in humans, we have resequenced between 4 to 5 kb of the proximal regulatory regions of three of the most differently expressed genes, in the expectation that variation at regulatory regions might account for intraespecific morphological diversity, as suggested elsewhere. Results Contrary to our expectations, expression profiles did not cluster the cells into unirradiated versus irradiated melanocytes, or into lightly pigmented versus darkly pigmented melanocytes. Instead, expression profiles correlated with the presence of Bovine Pituitary Extract (known to contain α-MSH) in the media. This allowed us to differentiate between melanocytes that are synthesizing melanin and those that are not. TYR, TYRP1 and DCT were among the five most differently expressed genes between these two groups. Population genetic analyses of sequence haplotypes of the proximal regulatory flanking-regions included Tajima's D, HEW and DHEW neutrality tests analysis. These were complemented with EHH tests (among others) in which the significance was obtained by a novel approach using extensive simulations under the coalescent model with recombination. We observe strong evidence for positive selection for TYRP1 alleles in Africans and for DCT and TYRP1 in Asians. However, the overall picture reflects a complex pattern of selection, which might include overdominance for DCT in Europeans. Conclusion Diversity patterns clearly evidence adaptive selection in pigmentation genes in Africans and Asians. In Europeans, the evidence is more complex, and both directional and balancing selection may be involved in light skin. As a result, different non-African populations may have acquired light skin by alternative ways, and so light skin, and perhaps dark skin too, may be the result of convergent evolution.

Published
2008
Full Text
View/download PDF

50. Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

Author

Cordell, Heather J., Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V., Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J., Ayers, Kristin L., Rahman, Thahira J., Hall, Darroch, Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Brook, J. David, Setchfield, Kerry, Bu'Lock, Frances A., Thornborough, Chris, O'Sullivan, John, Stuart, A. Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Moorman, Antoon F.M., Rauch, Anita, Lathrop, G. Mark, Keavney, Bernard D., and Goodship, Judith A.

Abstract

We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P = 1.4 × 10−7) and replicated convincingly (P = 3.9 × 10−5) in 798 cases and 2931 controls [per allele odds ratio (OR) = 1.27 in replication cohort, P = 7.7 × 10−11 in combined populations]. Single nucleotide polymorphisms in the glypican 5 gene on chromosome 13q32 were also associated (P = 1.7 × 10−7) and replicated convincingly (P = 1.2 × 10−5) in 789 cases and 2927 controls (per allele OR = 1.31 in replication cohort, P = 3.03 × 10−11 in combined populations). Four additional regions on chromosomes 10, 15 and 16 showed suggestive association accompanied by nominal replication. This study, the first genome-wide association study of a congenital heart malformation phenotype, provides evidence that common genetic variation influences the risk of TOF

Published
2017

Catalog

Books, media, physical & digital resources
See catalog results