TY  - JOUR
A1  - Vigorito, Elena
A1  - Kuchenbaecker, Karoline B.
A1  - Beesley, Jonathan
A1  - Adlard, Julian
A1  - Agnarsson, Bjarni A.
A1  - Andrulis, Irene L.
A1  - Arun, Banu K.
A1  - Barjhoux, Laure
A1  - Belotti, Muriel
A1  - Benitez, Javier
A1  - Berger, Andreas
A1  - Bojesen, Anders
A1  - Bonanni, Bernardo
A1  - Brewer, Carole
A1  - Caldes, Trinidad
A1  - Caligo, Maria A.
A1  - Campbell, Ian
A1  - Chan, Salina B.
A1  - Claes, Kathleen B. M.
A1  - Cohn, David E.
A1  - Cook, Jackie
A1  - Daly, Mary B.
A1  - Damiola, Francesca
A1  - Davidson, Rosemarie
A1  - de Pauw, Antoine
A1  - Delnatte, Capucine
A1  - Diez, Orland
A1  - Domchek, Susan M.
A1  - Dumont, Martine
A1  - Durda, Katarzyna
A1  - Dworniczak, Bernd
A1  - Easton, Douglas F.
A1  - Eccles, Diana
A1  - Ardnor, Christina Edwinsdotter
A1  - Eeles, Ros
A1  - Ejlertsen, Bent
A1  - Ellis, Steve
A1  - Evans, D. Gareth
A1  - Feliubadalo, Lidia
A1  - Fostira, Florentia
A1  - Foulkes, William D.
A1  - Friedman, Eitan
A1  - Frost, Debra
A1  - Gaddam, Pragna
A1  - Ganz, Patricia A.
A1  - Garber, Judy
A1  - Garcia-Barberan, Vanesa
A1  - Gauthier-Villars, Marion
A1  - Gehrig, Andrea
A1  - Gerdes, Anne-Marie
A1  - Giraud, Sophie
A1  - Godwin, Andrew K.
A1  - Goldgar, David E.
A1  - Hake, Christopher R.
A1  - Hansen, Thomas V. O.
A1  - Healey, Sue
A1  - Hodgson, Shirley
A1  - Hogervorst, Frans B. L.
A1  - Houdayer, Claude
A1  - Hulick, Peter J.
A1  - Imyanitov, Evgeny N.
A1  - Isaacs, Claudine
A1  - Izatt, Louise
A1  - Izquierdo, Angel
A1  - Jacobs, Lauren
A1  - Jakubowska, Anna
A1  - Janavicius, Ramunas
A1  - Jaworska-Bieniek, Katarzyna
A1  - Jensen, Uffe Birk
A1  - John, Esther M.
A1  - Vijai, Joseph
A1  - Karlan, Beth Y.
A1  - Kast, Karin
A1  - Khan, Sofia
A1  - Kwong, Ava
A1  - Laitman, Yael
A1  - Lester, Jenny
A1  - Lesueur, Fabienne
A1  - Liljegren, Annelie
A1  - Lubinski, Jan
A1  - Mai, Phuong L.
A1  - Manoukian, Siranoush
A1  - Mazoyer, Sylvie
A1  - Meindl, Alfons
A1  - Mensenkamp, Arjen R.
A1  - Montagna, Marco
A1  - Nathanson, Katherine L.
A1  - Neuhausen, Susan L.
A1  - Nevanlinna, Heli
A1  - Niederacher, Dieter
A1  - Olah, Edith
A1  - Olopade, Olufunmilayo I.
A1  - Ong, Kai-ren
A1  - Osorio, Ana
A1  - Park, Sue Kyung
A1  - Paulsson-Karlsson, Ylva
A1  - Pedersen, Inge Sokilde
A1  - Peissel, Bernard
A1  - Peterlongo, Paolo
A1  - Pfeiler, Georg
A1  - Phelan, Catherine M.
A1  - Piedmonte, Marion
A1  - Poppe, Bruce
A1  - Pujana, Miquel Angel
A1  - Radice, Paolo
A1  - Rennert, Gad
A1  - Rodriguez, Gustavo C.
A1  - Rookus, Matti A.
A1  - Ross, Eric A.
A1  - Schmutzler, Rita Katharina
A1  - Simard, Jacques
A1  - Singer, Christian F.
A1  - Slavin, Thomas P.
A1  - Soucy, Penny
A1  - Southey, Melissa
A1  - Steinemann, Doris
A1  - Stoppa-Lyonnet, Dominique
A1  - Sukiennicki, Grzegorz
A1  - Sutter, Christian
A1  - Szabo, Csilla I.
A1  - Tea, Muy-Kheng
A1  - Teixeira, Manuel R.
A1  - Teo, Soo-Hwang
A1  - Terry, Mary Beth
A1  - Thomassen, Mads
A1  - Tibiletti, Maria Grazia
A1  - Tihomirova, Laima
A1  - Tognazzo, Silvia
A1  - van Rensburg, Elizabeth J.
A1  - Varesco, Liliana
A1  - Varon-Mateeva, Raymonda
A1  - Vratimos, Athanassios
A1  - Weitzel, Jeffrey N.
A1  - McGuffog, Lesley
A1  - Kirk, Judy
A1  - Toland, Amanda Ewart
A1  - Hamann, Ute
A1  - Lindor, Noralane
A1  - Ramus, Susan J.
A1  - Greene, Mark H.
A1  - Couch, Fergus J.
A1  - Offit, Kenneth
A1  - Pharoah, Paul D. P.
A1  - Chenevix-Trench, Georgia
A1  - Antoniou, Antonis C.
T1  - Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
JF  - PLoS ONE
N2  - Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10−16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10−6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.
KW  - fine-scale mapping
KW  - ovarian cancer
KW  - genetics
KW  - BRCA1
KW  - BRCA2
Y1  - 2016
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-166869
VL  - 11
IS  - 7
ER  - 
TY  - JOUR
A1  - Mitchell, Jonathan S.
A1  - Li, Ni
A1  - Weinhold, Niels
A1  - Försti, Asta
A1  - Ali, Mina
A1  - van Duin, Mark
A1  - Thorleifsson, Gudmar
A1  - Johnson, David C.
A1  - Chen, Bowang
A1  - Halvarsson, Britt-Marie
A1  - Gudbjartsson, Daniel F.
A1  - Kuiper, Rowan
A1  - Stephens, Owen W.
A1  - Bertsch, Uta
A1  - Broderick, Peter
A1  - Campo, Chiara
A1  - Einsele, Hermann
A1  - Gregory, Walter A.
A1  - Gullberg, Urban
A1  - Henrion, Marc
A1  - Hillengass, Jens
A1  - Hoffmann, Per
A1  - Jackson, Graham H.
A1  - Johnsson, Ellinor
A1  - Jöud, Magnus
A1  - Kristinsson, Sigurdur Y.
A1  - Lenhoff, Stig
A1  - Lenive, Oleg
A1  - Mellqvist, Ulf-Henrik
A1  - Migliorini, Gabriele
A1  - Nahi, Hareth
A1  - Nelander, Sven
A1  - Nickel, Jolanta
A1  - Nöthen, Markus M.
A1  - Rafnar, Thorunn
A1  - Ross, Fiona M.
A1  - da Silva Filho, Miguel Inacio
A1  - Swaminathan, Bhairavi
A1  - Thomsen, Hauke
A1  - Turesson, Ingemar
A1  - Vangsted, Annette
A1  - Vogel, Ulla
A1  - Waage, Anders
A1  - Walker, Brian A.
A1  - Wihlborg, Anna-Karin
A1  - Broyl, Annemiek
A1  - Davies, Faith E.
A1  - Thorsteinsdottir, Unnur
A1  - Langer, Christian
A1  - Hansson, Markus
A1  - Kaiser, Martin
A1  - Sonneveld, Pieter
A1  - Stefansson, Kari
A1  - Morgan, Gareth J.
A1  - Goldschmidt, Hartmut
A1  - Hemminki, Kari
A1  - Nilsson, Björn
A1  - Houlston, Richard S.
T1  - Genome-wide association study identifies multiple susceptibility loci for multiple myeloma
JF  - Nature Communications
N2  - Multiple myeloma (MM) is a plasma cell malignancy with a significant heritable basis. Genome-wide association studies have transformed our understanding of MM predisposition, but individual studies have had limited power to discover risk loci. Here we perform a meta-analysis of these GWAS, add a new GWAS and perform replication analyses resulting in 9,866 cases and 239,188 controls. We confirm all nine known risk loci and discover eight new loci at 6p22.3 (rs34229995, P=1.31 × 10−8), 6q21 (rs9372120, P=9.09 × 10−15), 7q36.1 (rs7781265, P=9.71 × 10−9), 8q24.21 (rs1948915, P=4.20 × 10−11), 9p21.3 (rs2811710, P=1.72 × 10−13), 10p12.1 (rs2790457, P=1.77 × 10−8), 16q23.1 (rs7193541, P=5.00 × 10−12) and 20q13.13 (rs6066835, P=1.36 × 10−13), which localize in or near to JARID2, ATG5, SMARCD3, CCAT1, CDKN2A, WAC, RFWD3 and PREX1. These findings provide additional support for a polygenic model of MM and insight into the biological basis of tumour development.
KW  - Cancer genetics
KW  - Genome-wide association studies
KW  - Myeloma
Y1  - 2016
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-165983
VL  - 7
ER  - 
TY  - JOUR
A1  - Sadovnick, A. Dessa
A1  - Traboulsee, Anthony L.
A1  - Bernales, Cecily Q.
A1  - Ross, Jay P.
A1  - Forwell, Amanda L.
A1  - Yee, Irene M.
A1  - Guillot-Noel, Lena
A1  - Fontaine, Bertrand
A1  - Cournu-Rebeix, Isabelle
A1  - Alcina, Antonio
A1  - Fedetz, Maria
A1  - Izquierdo, Guillermo
A1  - Matesanz, Fuencisla
A1  - Hilven, Kelly
A1  - Dubois, Bénédicte
A1  - Goris, An
A1  - Astobiza, Ianire
A1  - Alloza, Iraide
A1  - Antigüedad, Alfredo
A1  - Vandenbroeck, Koen
A1  - Akkad, Denis A.
A1  - Aktas, Orhan
A1  - Blaschke, Paul
A1  - Buttmann, Mathias
A1  - Chan, Andrew
A1  - Epplen, Joerg T.
A1  - Gerdes, Lisa-Ann
A1  - Kroner, Antje
A1  - Kubisch, Christian
A1  - Kümpfel, Tania
A1  - Lohse, Peter
A1  - Rieckmann, Peter
A1  - Zettl, Uwe K.
A1  - Zipp, Frauke
A1  - Bertram, Lars
A1  - Lill, Christina M.
A1  - Fernandez, Oscar
A1  - Urbaneja, Patricia
A1  - Leyva, Laura
A1  - Alvarez-Cermeño, Jose Carlos
A1  - Arroyo, Rafael
A1  - Garagorri, Aroa M.
A1  - García-Martínez, Angel
A1  - Villar, Luisa M.
A1  - Urcelay, Elena
A1  - Malhotra, Sunny
A1  - Montalban, Xavier
A1  - Comabella, Manuel
A1  - Berger, Thomas
A1  - Fazekas, Franz
A1  - Reindl, Markus
A1  - Schmied, Mascha C.
A1  - Zimprich, Alexander
A1  - Vilariño-Güell, Carles
T1  - Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients
JF  - G3: Genes Genomes Genetics
N2  - Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117), despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87). To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility.
KW  - multiple sclerosis
KW  - genetics
KW  - linkage
KW  - association
KW  - plasminogen
Y1  - 2016
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-165405
VL  - 6
IS  - 7
ER  - 
TY  - JOUR
A1  - Lesch, K. P.
A1  - Stöber, Gerald
A1  - Balling, U.
A1  - Franzek, Ernst
A1  - Li, S. H.
A1  - Ross, C. A.
A1  - Newman, M.
A1  - Beckmann, H.
A1  - Riederer, P.
T1  - Triplet repeats in clinical subtypes of schizophrenia: variation at the DRPLA (B37 CAG repeat) locus is not associated with periodic catatonia
N2  - Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, indicates that genes with triplet repeat expansions or other unstable repetitive elements affecting gene expression may be involved in the etiology of this disorder. Because patients affected with dentatorubral-pallidoluysian atrophy (DRPLA) may present with "schizophrenic" symptoms, we have investigated the DRPLA (B 37 CAG repeat) locus on chromosome 12 in 41 patients with periodic catatonia. The B 37 CAG repeat locus was highly polymorphic but all alleles in both the patient and control group had repeat sizes within the normal range. We conclude that variation at the DRPLA locus is unlikely to be associated with periodic catatonia. The evidence for dominant inheritance and anticipation as well as the high prevalence of human brain genes containing trinucleotide repeats justifies further screening for triplet repeat expansions in periodic catatonia.
KW  - Schizophrenie
KW  - Association study
KW  - B 37 CAG repeat locus
KW  - chromosome 12
KW  - schizophrenia
KW  - periodic catatonia
Y1  - 1994
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-63369
ER  -