Bickeböller, Heike

[["dc.bibliographiccitation.artnumber","S55"],["dc.bibliographiccitation.journal","BMC Genetics"],["dc.bibliographiccitation.volume","6"],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Janicke, N."],["dc.contributor.author","Kohler, K."],["dc.contributor.author","Korb, Katrin"],["dc.contributor.author","Kulle, Bettina"],["dc.contributor.author","Bickeboeller, Heike"],["dc.date.accessioned","2018-11-07T10:53:25Z"],["dc.date.available","2018-11-07T10:53:25Z"],["dc.date.issued","2005"],["dc.description.abstract","For the identification of susceptibility loci in complex diseases the choice of the target phenotype is very important. We compared results of genome-wide searches for linkage or for association related to three phenotypes for alcohol use disorder. These are a behavioral score BQ, based on a 12-item questionnaire about drinking behavior and the subject's report of drinking-related health problems, and ERP pattern and ERP magnitude, both derived from the eyes closed resting ERP measures to quantify brain activity. Overall, we were able to identify 11 candidate regions for linkage. Only two regions were found to be related to both BQ and one of the ERP phenotypes. The genome-wide search for association using single-nucleotide polymorphisms did not yield interesting leads."],["dc.identifier.doi","10.1186/1471-2156-6-S1-S55"],["dc.identifier.isi","000236103400055"],["dc.identifier.pmid","16451667"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?goescholar/1371"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/49360"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.publisher.place","London"],["dc.relation.conference","14th Genetic Analysis Workshop"],["dc.relation.eventlocation","Noordwijkerhout, NETHERLANDS"],["dc.relation.issn","1471-2156"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Surrogate phenotype definition for alcohol use disorders: a genome-wide search for linkage and association"],["dc.type","conference_paper"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","44634"],["dc.bibliographiccitation.journal","Scientific Reports"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Pan, Yongchu"],["dc.contributor.author","Liu, Hongliang"],["dc.contributor.author","Wang, Y."],["dc.contributor.author","Kang, Xiaozheng"],["dc.contributor.author","Liu, Zhensheng"],["dc.contributor.author","Owzar, Kouros"],["dc.contributor.author","Han, Younghun"],["dc.contributor.author","Su, L. I."],["dc.contributor.author","Wei, Yongyue"],["dc.contributor.author","Hung, Rayjean J."],["dc.contributor.author","Brhane, Yonathan"],["dc.contributor.author","McLaughlin, John R."],["dc.contributor.author","Brennan, P. C."],["dc.contributor.author","Bickeboeller, Heike"],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Houlston, Richard S."],["dc.contributor.author","Caporaso, Neil E."],["dc.contributor.author","Landi, Maria Teresa"],["dc.contributor.author","Heinrich, Joachim"],["dc.contributor.author","Risch, Angela"],["dc.contributor.author","Wu, X."],["dc.contributor.author","Ye, Yuanqing"],["dc.contributor.author","Christiani, David C."],["dc.contributor.author","Amos, Christopher I."],["dc.contributor.author","Wei, Qingyi"],["dc.date.accessioned","2018-11-07T10:26:10Z"],["dc.date.available","2018-11-07T10:26:10Z"],["dc.date.issued","2017"],["dc.description.abstract","mRNA splicing is an important mechanism to regulate mRNA expression. Abnormal regulation of this process may lead to lung cancer. Here, we investigated the associations of 11,966 single-nucleotide polymorphisms (SNPs) in 206 mRNA splicing-related genes with lung cancer risk by using the summary data from six published genome-wide association studies (GWASs) of Transdisciplinary Research in Cancer of the Lung (TRICL) (12,160 cases and 16,838 controls) and another two lung cancer GWASs of Harvard University (984 cases and 970 controls) and deCODE (1,319 cases and 26,380 controls). We found that a total of 12 significant SNPs with false discovery rate (FDR) <= 0.05 were mapped to one novel gene PRPF6 and two previously reported genes (DHX16 and LSM2) that were also confirmed in this study. The six novel SNPs in PRPF6 were in high linkage disequilibrium and associated with PRPF6 mRNA expression in lymphoblastoid cells from 373 Europeans in the 1000 Genomes Project. Taken together, our studies shed new light on the role of mRNA splicing genes in the development of lung cancer."],["dc.identifier.doi","10.1038/srep44634"],["dc.identifier.isi","000397001600001"],["dc.identifier.pmid","28304396"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/14434"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/42982"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","2045-2322"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Associations between genetic variants in mRNA splicing-related genes and risk of lung cancer: a pathway-based analysis from published GWASs"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","216"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Molecular Carcinogenesis"],["dc.bibliographiccitation.lastpage","224"],["dc.bibliographiccitation.volume","57"],["dc.contributor.author","Feng, Yun"],["dc.contributor.author","Wang, Yanru"],["dc.contributor.author","Liu, Hongliang"],["dc.contributor.author","Liu, Zhensheng"],["dc.contributor.author","Mills, Coleman"],["dc.contributor.author","Owzar, Kouros"],["dc.contributor.author","Xie, Jichun"],["dc.contributor.author","Han, Younghun"],["dc.contributor.author","Qian, David C."],["dc.contributor.author","Hung RJ, Rayjean J."],["dc.contributor.author","Wei, Qingyi"],["dc.contributor.author","Bickeböller, Heike"],["dc.contributor.author","Rosenberger, Albert"],["dc.date.accessioned","2022-06-08T07:57:59Z"],["dc.date.available","2022-06-08T07:57:59Z"],["dc.date.issued","2017"],["dc.identifier.doi","10.1002/mc.22748"],["dc.identifier.issn","0899-1987"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/110280"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-575"],["dc.relation.issn","0899-1987"],["dc.title","Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","937"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","International Archives of Occupational and Environmental Health"],["dc.bibliographiccitation.lastpage","950"],["dc.bibliographiccitation.volume","91"],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Hung, Rayjean J."],["dc.contributor.author","Christiani, David C."],["dc.contributor.author","Caporaso, Neil E."],["dc.contributor.author","Liu, Geoffrey"],["dc.contributor.author","Bojesen, Stig E."],["dc.contributor.author","Le Marchand, Loic"],["dc.contributor.author","Haiman, Ch. A."],["dc.contributor.author","Albanes, Demetrios"],["dc.contributor.author","Aldrich, Melinda C."],["dc.contributor.author","Tardon, Adonina"],["dc.contributor.author","Fernández-Tardón, G."],["dc.contributor.author","Rennert, Gad"],["dc.contributor.author","Field, John K."],["dc.contributor.author","Kiemeney, B."],["dc.contributor.author","Lazarus, Philip"],["dc.contributor.author","Haugen, Aage"],["dc.contributor.author","Zienolddiny, Shanbeh"],["dc.contributor.author","Lam, Stephen"],["dc.contributor.author","Schabath, Matthew B."],["dc.contributor.author","Andrew, Angeline S."],["dc.contributor.author","Brunnsstöm, Hans"],["dc.contributor.author","Goodman, Gary E."],["dc.contributor.author","Doherty, Jennifer A."],["dc.contributor.author","Chen, Chu"],["dc.contributor.author","Teare, M. Dawn"],["dc.contributor.author","Wichmann, H.-Erich"],["dc.contributor.author","Manz, Judith"],["dc.contributor.author","Risch, Angela"],["dc.contributor.author","Muley, Thomas R."],["dc.contributor.author","Johansson, Mikael"],["dc.contributor.author","Brennan, Paul"],["dc.contributor.author","Landi, Maria Teresa"],["dc.contributor.author","Amos, Christopher I."],["dc.contributor.author","Pesch, Beate"],["dc.contributor.author","Johnen, Georg"],["dc.contributor.author","Brüning, Thomas"],["dc.contributor.author","Bickeböller, Heike"],["dc.contributor.author","Gomolka, Maria"],["dc.date.accessioned","2020-12-10T14:10:35Z"],["dc.date.available","2020-12-10T14:10:35Z"],["dc.date.issued","2018"],["dc.identifier.doi","10.1007/s00420-018-1334-3"],["dc.identifier.eissn","1432-1246"],["dc.identifier.issn","0340-0131"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/70809"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Genetic modifiers of radon-induced lung cancer risk: a genome-wide interaction study in former uranium miners"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","935"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Cancer Epidemiology, Biomarkers & Prevention"],["dc.bibliographiccitation.lastpage","942"],["dc.bibliographiccitation.volume","28"],["dc.contributor.author","Zhu, Ying"],["dc.contributor.author","Wei, Yongyue"],["dc.contributor.author","Zhang, Ruyang"],["dc.contributor.author","Dong, Xuesi"],["dc.contributor.author","Shen, Sipeng"],["dc.contributor.author","Zhao, Yang"],["dc.contributor.author","Bai, Jianling"],["dc.contributor.author","Albanes, Demetrius"],["dc.contributor.author","Caporaso, Neil E."],["dc.contributor.author","Landi, Maria Teresa"],["dc.contributor.author","Zhu, Bin"],["dc.contributor.author","Chanock, Stephen J."],["dc.contributor.author","Gu, Fangyi"],["dc.contributor.author","Lam, Stephen"],["dc.contributor.author","Tsao, Ming-Sound"],["dc.contributor.author","Shepherd, Frances A."],["dc.contributor.author","Tardon, Adonina"],["dc.contributor.author","Fernández-Somoano, Ana"],["dc.contributor.author","Fernandez-Tardon, Guillermo"],["dc.contributor.author","Chen, Chu"],["dc.contributor.author","Barnett, Matthew J."],["dc.contributor.author","Doherty, Jennifer"],["dc.contributor.author","Bojesen, Stig E."],["dc.contributor.author","Johansson, Mattias"],["dc.contributor.author","Brennan, Paul"],["dc.contributor.author","McKay, James D."],["dc.contributor.author","Carreras-Torres, Robert"],["dc.contributor.author","Muley, Thomas"],["dc.contributor.author","Risch, Angela"],["dc.contributor.author","Wichmann, Heunz-Erich"],["dc.contributor.author","Bickeboeller, Heike"],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Rennert, Gad"],["dc.contributor.author","Saliba, Walid"],["dc.contributor.author","Arnold, Susanne M."],["dc.contributor.author","Field, John K."],["dc.contributor.author","Davies, Michael P.A."],["dc.contributor.author","Marcus, Michael W."],["dc.contributor.author","Wu, Xifeng"],["dc.contributor.author","Ye, Yuanqing"],["dc.contributor.author","Le Marchand, Loic"],["dc.contributor.author","Wilkens, Lynne R."],["dc.contributor.author","Melander, Olle"],["dc.contributor.author","Manjer, Jonas"],["dc.contributor.author","Brunnström, Hans"],["dc.contributor.author","Hung, Rayjean J."],["dc.contributor.author","Liu, Geoffrey"],["dc.contributor.author","Brhane, Yonathan"],["dc.contributor.author","Kachuri, Linda"],["dc.contributor.author","Andrew, Angeline S."],["dc.contributor.author","Duell, Eric J."],["dc.contributor.author","Kiemeney, Lambertus A."],["dc.contributor.author","van der Heijden, Erik HFM"],["dc.contributor.author","Haugen, Aage"],["dc.contributor.author","Zienolddiny, Shanbeh"],["dc.contributor.author","Skaug, Vidar"],["dc.contributor.author","Grankvist, Kjell"],["dc.contributor.author","Johansson, Mikael"],["dc.contributor.author","Woll, Penella J."],["dc.contributor.author","Cox, Angela"],["dc.contributor.author","Taylor, Fiona"],["dc.contributor.author","Teare, Dawn M."],["dc.contributor.author","Lazarus, Philip"],["dc.contributor.author","Schabath, Matthew B."],["dc.contributor.author","Aldrich, Melinda C."],["dc.contributor.author","Houlston, Richard S."],["dc.contributor.author","McLaughlin, John"],["dc.contributor.author","Stevens, Victoria L."],["dc.contributor.author","Shen, Hongbing"],["dc.contributor.author","Hu, Zhibin"],["dc.contributor.author","Dai, Juncheng"],["dc.contributor.author","Amos, Christopher I."],["dc.contributor.author","Han, Younghun"],["dc.contributor.author","Zhu, Dakai"],["dc.contributor.author","Goodman, Gary E."],["dc.contributor.author","Chen, Feng"],["dc.contributor.author","Christiani, David C."],["dc.date.accessioned","2020-12-10T18:37:45Z"],["dc.date.available","2020-12-10T18:37:45Z"],["dc.date.issued","2019"],["dc.description.abstract","Platelets are a critical element in coagulation and inflammation, and activated platelets are linked to cancer risk through diverse mechanisms. However, a causal relationship between platelets and risk of lung cancer remains unclear."],["dc.identifier.doi","10.1158/1055-9965.EPI-18-0356"],["dc.identifier.eissn","1538-7755"],["dc.identifier.issn","1055-9965"],["dc.identifier.pmid","30700444"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/77082"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.relation.eissn","1538-7755"],["dc.relation.issn","1055-9965"],["dc.relation.issn","1538-7755"],["dc.title","Elevated Platelet Count Appears to Be Causally Associated with Increased Risk of Lung Cancer: A Mendelian Randomization Analysis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1663"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Molecular Carcinogenesis"],["dc.bibliographiccitation.lastpage","1672"],["dc.bibliographiccitation.volume","56"],["dc.contributor.author","Yin, Jieyun"],["dc.contributor.author","Liu, Hongliang"],["dc.contributor.author","Liu, Zhensheng"],["dc.contributor.author","Owzar, Kouros"],["dc.contributor.author","Han, Younghun"],["dc.contributor.author","Su, L. I."],["dc.contributor.author","Wei, Yongyue"],["dc.contributor.author","Hung, Rayjean J."],["dc.contributor.author","Brhane, Yonathan"],["dc.contributor.author","McLaughlin, John R."],["dc.contributor.author","Brennan, P. C."],["dc.contributor.author","Bickeboeller, Heike"],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Houlston, Richard S."],["dc.contributor.author","Caporaso, Neil E."],["dc.contributor.author","Landi, Maria Teresa"],["dc.contributor.author","Heinrich, Joachim"],["dc.contributor.author","Risch, Angela"],["dc.contributor.author","Christiani, David C."],["dc.contributor.author","Amos, Christopher I."],["dc.contributor.author","Wei, Qingyi"],["dc.date.accessioned","2018-11-07T10:22:59Z"],["dc.date.available","2018-11-07T10:22:59Z"],["dc.date.issued","2017"],["dc.description.abstract","The fatty acids (FAs) metabolism is suggested to play a pivotal role in the development of lung cancer, and we explored that by conducting a pathway-based analysis. We performed a meta-analysis of published datasets of six genome wide association studies (GWASs) from the Transdisciplinary Research in Cancer of the Lung (TRICL) consortium, which included 12 160 cases with lung cancer and 16 838 cancer-free controls. A total of 30 722 single-nucleotide polymorphisms (SNPs) from 317 genes relevant to FA metabolic pathways were identified. An additional dataset fromthe Harvard Lung Cancer Study with 984 cases and 970 healthy controls was also added to the final meta-analysis. In the initial meta-analysis, 26 of 28 SNPs that passed false discovery rate multiple tests were mapped to the CYP4F3 gene. Among the 26 top ranked hits was a proxy SNP, CYP4F3 rs4646904 (P=8.65x10(-6), FDR = 0.018), which is suggested to change splicing pattern/efficiency and to be associated with gene expression levels. However, after adding data of rs4646904 from the Harvard GWAS, the significance in the combined analysis was reduced to P=3.52x10(-3) [odds ratio (OR) = 1.07, 95% confidence interval (95% CI) = 1.03-1.12]. Interestingly, the small Harvard dataset also pointed to the same direction of the association in subgroups of smokers (OR = 1.07) and contributed to a combined OR of 1.13 (95% CI = 1.06-1.20, P=6.70x10(-5)). The results suggest that a potentially functional SNP in CYP4F3 (rs4646904) may contribute to the etiology of lung cancer, especially in smokers. Additional mechanistic studies are warranted to unravel the potential biological significance of the finding."],["dc.identifier.doi","10.1002/mc.22622"],["dc.identifier.isi","000403698200012"],["dc.identifier.pmid","28150878"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/42374"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Wiley"],["dc.relation.issn","1098-2744"],["dc.relation.issn","0899-1987"],["dc.title","Pathway-analysis of published genome-wide association studies of lung cancer: A potential role for the CYP4F3 locus"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","44"],["dc.bibliographiccitation.journal","BMC Genetics"],["dc.bibliographiccitation.volume","8"],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Sharma, Manu"],["dc.contributor.author","Mueller-Myhsok, Bertram"],["dc.contributor.author","Gasser, Thomas"],["dc.contributor.author","Bickeboeller, Heike"],["dc.date.accessioned","2018-11-07T11:00:44Z"],["dc.date.available","2018-11-07T11:00:44Z"],["dc.date.issued","2007"],["dc.description.abstract","Background: Genome wide linkage scans have often been successful in the identification of genetic regions containing susceptibility genes for a disease. Meta analysis is used to synthesize information and can even deliver evidence for findings missed by original studies. If researchers are not contributing their data, extracting valid information from publications is technically challenging, but worth the effort. We propose an approach to include data extracted from published figures of genome wide linkage scans. The validity of the extraction was examined on the basis of those 25 markers, for which sufficient information was reported. Monte Carlo simulations were used to take into account the uncertainty in marker position and in linkage test statistic. For the final meta analysis we compared the Genome Search Meta Analysis method (GSMA) and the Corrected p-value Meta analysis Method (CPMM). An application to Parkinson's disease is given. Because we had to use secondary data a meta analysis based on original summary values would be desirable. Results: Data uncertainty by replicated extraction of marker position is shown to be much smaller than 30 cM, a distance up to which a maximum LOD score may usually be found away from the true locus. The main findings are not impaired by data uncertainty. Conclusion: Applying the proposed method a novel linked region for Parkinson's disease was identified on chromosome 14 ( p= 0.036). Comparing the two meta analysis methods we found in this analysis more regions of interest being identified by GSMA, whereas CPMM provides stronger evidence for linkage. For further validation of the extraction method comparisons with raw data would be required."],["dc.identifier.doi","10.1186/1471-2156-8-44"],["dc.identifier.isi","000248703900001"],["dc.identifier.pmid","17605797"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?goescholar/1251"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/50989"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1471-2156"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Meta analysis of whole-genome linkage scans with data uncertainty: an application to Parkinson's disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2446"],["dc.bibliographiccitation.issue","16"],["dc.bibliographiccitation.journal","Human Molecular Genetics"],["dc.bibliographiccitation.lastpage","2456"],["dc.bibliographiccitation.volume","15"],["dc.contributor.author","Riemenschneider, Matthias"],["dc.contributor.author","Konta, Lidija"],["dc.contributor.author","Friedrich, Patricia"],["dc.contributor.author","Schwarz, Sandra"],["dc.contributor.author","Taddei, Kevin"],["dc.contributor.author","Neff, Frauke"],["dc.contributor.author","Padovani, Alessandro"],["dc.contributor.author","Koelsch, Heike"],["dc.contributor.author","Laws, Simon M."],["dc.contributor.author","Klopp, Norman"],["dc.contributor.author","Bickeboeller, Heike"],["dc.contributor.author","Wagenpfeil, Stefan"],["dc.contributor.author","Mueller, Jakob C."],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Diehl-Schmid, Janine"],["dc.contributor.author","Archetti, Silvana"],["dc.contributor.author","Lautenschlager, Nicola"],["dc.contributor.author","Borroni, Barbara"],["dc.contributor.author","Mueller, Ulrich"],["dc.contributor.author","Illig, Thomas"],["dc.contributor.author","Heun, Reinhard"],["dc.contributor.author","Egensperger, Rupert"],["dc.contributor.author","Schlegel, Juergen"],["dc.contributor.author","Foerstl, Hans"],["dc.contributor.author","Martins, Ralph N."],["dc.contributor.author","Kurz, Alexander"],["dc.date.accessioned","2018-11-07T09:25:46Z"],["dc.date.available","2018-11-07T09:25:46Z"],["dc.date.issued","2006"],["dc.description.abstract","A number of susceptibility loci for Alzheimer's disease (AD) have been identified including a region on Chromosome 10q21-q22. Within this region the plasminogen activator urokinase gene (PLAU) was considered as a reasonable candidate from its functional implication in plasmin generation, a serine protease capable of degrading beta-Amyloid (A beta) protein. We screened 56 single nucleotide polymorphisms (SNPs) around PLAU using 1751 individuals from four independent case-control samples (Munich, N=679; Bonn N=282; Brescia (Italy) N=219; Perth (Australia) N=557 and one discordant sib-pair sample (Munich N=622). In brain tissue samples of neuropathologically confirmed cases with AD (N=33) we analyzed plaque counts according to the risk allele. We identified that one functional exonic SNP (rs2227564) is associated with development of AD using the four independent case-control samples (Munich, P=0.02; Bonn, P=0.005; Brescia (Italy), P=0.001; Perth (Australia), P=0.03) and the discordant sib-pair sample (P=0.001). In brain tissue, from neuropathologically confirmed cases with AD, we identified significantly higher plaque counts in carriers of the risk allele (N=6; 60.3 +/- 16.9) compared with non-carriers (N=9; 26.3 +/- 8.8; P=0.007). This study provides compelling evidence of a genetic and functional involvement of a common PLAU variant into the pathogenesis of AD. Further functional investigations are warranted to elucidate the specific role of PLAU, respectively, PLAU variants in the metabolism of A beta proteins."],["dc.identifier.doi","10.1093/hmg/ddl167"],["dc.identifier.isi","000239901700005"],["dc.identifier.pmid","16825285"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/30146"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","0964-6906"],["dc.title","A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Human Genetics"],["dc.bibliographiccitation.volume","135"],["dc.contributor.author","Brenner, Darren R."],["dc.contributor.author","Brennan, P. C."],["dc.contributor.author","Boffetta, Paolo"],["dc.contributor.author","Amos, Christopher I."],["dc.contributor.author","Spitz, Margaret R."],["dc.contributor.author","Chen, Chu"],["dc.contributor.author","Goodman, Gary"],["dc.contributor.author","Heinrich, Joachim"],["dc.contributor.author","Bickeboeller, Heike"],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Risch, Angela"],["dc.contributor.author","Muley, Thomas"],["dc.contributor.author","McLaughlin, John R."],["dc.contributor.author","Benhamou, Simone"],["dc.contributor.author","Bouchardy, Christine"],["dc.contributor.author","Lewinger, Juan Pablo"],["dc.contributor.author","Witte, John S."],["dc.contributor.author","Chen, Gary"],["dc.contributor.author","Bull, Shelley"],["dc.contributor.author","Hung, Rayjean J."],["dc.date.accessioned","2018-11-07T10:10:56Z"],["dc.date.available","2018-11-07T10:10:56Z"],["dc.date.issued","2016"],["dc.description.sponsorship","NCI NIH HHS [U19 CA148127]"],["dc.format.extent","963"],["dc.identifier.doi","10.1007/s00439-016-1692-4"],["dc.identifier.isi","000380060700012"],["dc.identifier.pmid","27264937"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/39951"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","1432-1203"],["dc.relation.issn","0340-6717"],["dc.title","Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls (vol 132, pg 579, 2013)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","S95"],["dc.bibliographiccitation.issue","Suppl 7"],["dc.bibliographiccitation.journal","BMC Proceedings"],["dc.bibliographiccitation.volume","3"],["dc.contributor.author","Sohns, Melanie"],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Bickeböller, Heike"],["dc.date.accessioned","2016-02-18T17:03:24Z"],["dc.date.accessioned","2021-10-27T13:20:24Z"],["dc.date.available","2016-02-18T17:03:24Z"],["dc.date.available","2021-10-27T13:20:24Z"],["dc.date.issued","2009"],["dc.date.updated","2016-02-18T17:03:24Z"],["dc.description.abstract","Abstract In genome-wide association studies (GWAS) genetic markers are often ranked to select genes for further pursuit. Especially for moderately associated and interrelated genes, information on genes and pathways may improve the selection. We applied and combined two main approaches for data integration to a GWAS for rheumatoid arthritis, gene set enrichment analysis (GSEA) and hierarchical Bayes prioritization (HBP). Many associated genes are located in the HLA region on 6p21. However, the ranking lists of genes and gene sets differ considerably depending on the chosen approach: HBP changes the ranking only slightly and primarily contains HLA genes in the top 100 gene lists. GSEA includes also many non-HLA genes."],["dc.identifier.doi","10.1186/1753-6561-3-S7-S95"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/12881"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/91963"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.rights","CC BY 2.0"],["dc.rights.holder","Sohns et al; licensee BioMed Central Ltd."],["dc.rights.uri","https://creativecommons.org/licenses/by/2.0"],["dc.title","Integration of a priori gene set information into genome-wide association studies"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]