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1. Transethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals not only shared but also ethnicity-specific disease associations.

Author

Degenhardt, Frauke, Mayr, Gabriele, Wendorff, Mareike, Boucher, Gabrielle, Ellinghaus, Eva, Ellinghaus, David, ElAbd, Hesham, Rosati, Elisa, Hübenthal, Matthias, Juzenas, Simonas, Abedian, Shifteh, Vahedi, Homayon, Thelma, B, Yang, Suk-Kyun, Ye, Byong, Cheon, Jae, Datta, Lisa, Daryani, Naser, Ellul, Pierre, Esaki, Motohiro, Fuyuno, Yuta, McGovern, Dermot, Haritunians, Talin, Hong, Myhunghee, Juyal, Garima, Jung, Eun, Kubo, Michiaki, Kugathasan, Subra, Lenz, Tobias, Leslie, Stephen, Malekzadeh, Reza, Midha, Vandana, Motyer, Allan, Ng, Siew, Okou, David, Raychaudhuri, Soumya, Schembri, John, Schreiber, Stefan, Song, Kyuyoung, Sood, Ajit, Takahashi, Atsushi, Torres, Esther, Umeno, Junji, Alizadeh, Behrooz, Weersma, Rinse, Wong, Sunny, Yamazaki, Keiko, Karlsen, Tom, Rioux, John, Brant, Steven, and Franke, Andre

Subjects
Alleles, Cohort Studies, Colitis, Ulcerative, Ethnicity, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, HLA Antigens, HLA-DQ Antigens, HLA-DRB1 Chains, Haplotypes, Humans, Linkage Disequilibrium, Peptides, Polymorphism, Single Nucleotide, Protein Binding
Abstract

Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gut. Genetic association studies have identified the highly variable human leukocyte antigen (HLA) region as the strongest susceptibility locus for IBD and specifically DRB1*01:03 as a determining factor for ulcerative colitis (UC). However, for most of the association signal such as delineation could not be made because of tight structures of linkage disequilibrium within the HLA. The aim of this study was therefore to further characterize the HLA signal using a transethnic approach. We performed a comprehensive fine mapping of single HLA alleles in UC in a cohort of 9272 individuals with African American, East Asian, Puerto Rican, Indian and Iranian descent and 40 691 previously analyzed Caucasians, additionally analyzing whole HLA haplotypes. We computationally characterized the binding of associated HLA alleles to human self-peptides and analyzed the physicochemical properties of the HLA proteins and predicted self-peptidomes. Highlighting alleles of the HLA-DRB1*15 group and their correlated HLA-DQ-DR haplotypes, we not only identified consistent associations (regarding effects directions/magnitudes) across different ethnicities but also identified population-specific signals (regarding differences in allele frequencies). We observed that DRB1*01:03 is mostly present in individuals of Western European descent and hardly present in non-Caucasian individuals. We found peptides predicted to bind to risk HLA alleles to be rich in positively charged amino acids. We conclude that the HLA plays an important role for UC susceptibility across different ethnicities. This research further implicates specific features of peptides that are predicted to bind risk and protective HLA proteins.

Published
2021

2. Large-Scale Imputation of KIR Copy Number and HLA Alleles in North American and European Psoriasis Case-Control Cohorts Reveals Association of Inhibitory KIR2DL2 With Psoriasis

Author

Ahn, Richard, Vukcevic, Damjan, Motyer, Allan, Nititham, Joanne, Squire, David McG, Hollenbach, Jill A, Norman, Paul J, Ellinghaus, Eva, Nair, Rajan P, Tsoi, Lam C, Oksenberg, Jorge, Foerster, John, Lieb, Wolfgang, Weidinger, Stephan, Franke, Andre, Elder, James T, Jorgenson, Eric, Leslie, Stephen, and Liao, Wilson

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Immunology, Human Genome, Autoimmune Disease, Cancer, Psoriasis, Clinical Research, 2.1 Biological and endogenous factors, Inflammatory and immune system, Alleles, Case-Control Studies, DNA Copy Number Variations, Europe, Genetic Predisposition to Disease, HLA-A Antigens, HLA-B Antigens, Humans, Logistic Models, North America, Polymorphism, Single Nucleotide, Receptors, KIR2DL2, psoriasis, KIR, HLA, imputation, genetics, autoimmunity, Medical Microbiology, Biochemistry and cell biology
Abstract

Killer cell immunoglobulin-like receptors (KIR) regulate immune responses in NK and CD8+ T cells via interaction with HLA ligands. KIR genes, including KIR2DS1, KIR3DL1, and KIR3DS1 have previously been implicated in psoriasis susceptibility. However, these previous studies were constrained to small sample sizes, in part due to the time and expense required for direct genotyping of KIR genes. Here, we implemented KIR*IMP to impute KIR copy number from single-nucleotide polymorphisms (SNPs) on chromosome 19 in the discovery cohort (n=11,912) from the PAGE consortium, University of California San Francisco, and the University of Dundee, and in a replication cohort (n=66,357) from Kaiser Permanente Northern California. Stratified multivariate logistic regression that accounted for patient ancestry and high-risk HLA alleles revealed that KIR2DL2 copy number was significantly associated with psoriasis in the discovery cohort (p ≤ 0.05). The KIR2DL2 copy number association was replicated in the Kaiser Permanente replication cohort. This is the first reported association of KIR2DL2 copy number with psoriasis and highlights the importance of KIR genetics in the pathogenesis of psoriasis.

Published
2021

3. The association between genetically elevated polyunsaturated fatty acids and risk of cancer

Author

Tintle, Nathan, Rice, Terri, Cheng, Iona, Jenkins, Mark, Gallinger, Steve, Cornish, Alex J., Sud, Amit, Vijayakrishnan, Jayaram, Wrensch, Margaret, Johansson, Mattias, Norman, Aaron D., Klein, Alison, Clay-Gilmour, Alyssa, Franke, Andre, Ardisson Korat, Andres V., Wheeler, Bill, Nilsson, Björn, Smith, Caren, Heng, Chew-Kiat, Song, Ci, Riadi, David, Claus, Elizabeth B., Ellinghaus, Eva, Ostroumova, Evgenia, Hosnijeh, de Vathaire, Florent, Cugliari, Giovanni, Matullo, Giuseppe, Oi-Lin Ng, Irene, Passow, Jeanette E., Foo, Jia Nee, Han, Jiali, Liu, Jianjun, Barnholtz-Sloan, Jill, Schildkraut, Joellen M., Maris, John, Wiemels, Joseph L., Hemminki, Kari, Yang, Keming, Kiemeney, Lambertus A., Wu, Lang, Amundadottir, Laufey, Stern, Marc-Henri, Boutron, Marie-Christine, Iles, Mark Martin, Purdue, Mark P., Stanulla, Martin, Bondy, Melissa, Gaudet, Mia, Mobuchon, Lenha, Camp, Nicola J., Sham, Pak Chung, Guénel, Pascal, Brennan, Paul, Taylor, Philip R., Ostrom, Quinn, Stolzenberg-Solomon, Rachael, Dorajoo, Rajkumar, Houlston, Richard, Jenkins, Robert B., Diskin, Sharon, Berndt, Sonja I., Tsavachidis, Spiridon, Channock, Stephen J., Harrison, Tabitha, Galesloot, Tessel, Gyllensten, Ulf, Joseph, Vijai, Shi, Y., Yang, Wenjian, Lin, Yi, Van Den Eeden, Stephen K., Haycock, Philip C., Borges, Maria Carolina, Burrows, Kimberley, Lemaitre, Rozenn N., Burgess, Stephen, Khankari, Nikhil K., Tsilidis, Konstantinos K., Gaunt, Tom R., Hemani, Gibran, Zheng, Jie, Truong, Therese, Birmann, Brenda M., OMara, Tracy, Spurdle, Amanda B., Iles, Mark M., Law, Matthew H., Slager, Susan L., Saberi Hosnijeh, Fatemeh, Mariosa, Daniela, Cotterchio, Michelle, Cerhan, James R., Peters, Ulrike, Enroth, Stefan, Gharahkhani, Puya, Le Marchand, Loic, Williams, Ann C., Block, Robert C., Amos, Christopher I., Hung, Rayjean J., Zheng, Wei, Gunter, Marc J., Smith, George Davey, Relton, Caroline, and Martin, Richard M.

Published
2023
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4. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

Author

Sazonovs, Aleksejs, Stevens, Christine R., Venkataraman, Guhan R., Yuan, Kai, Avila, Brandon, Abreu, Maria T., Ahmad, Tariq, Allez, Matthieu, Ananthakrishnan, Ashwin N., Atzmon, Gil, Baras, Aris, Barrett, Jeffrey C., Barzilai, Nir, Beaugerie, Laurent, Beecham, Ashley, Bernstein, Charles N., Bitton, Alain, Bokemeyer, Bernd, Chan, Andrew, Chung, Daniel, Cleynen, Isabelle, Cosnes, Jacques, Cutler, David J., Daly, Allan, Damas, Oriana M., Datta, Lisa W., Dawany, Noor, Devoto, Marcella, Dodge, Sheila, Ellinghaus, Eva, Fachal, Laura, Farkkila, Martti, Faubion, William, Ferreira, Manuel, Franchimont, Denis, Gabriel, Stacey B., Ge, Tian, Georges, Michel, Gettler, Kyle, Giri, Mamta, Glaser, Benjamin, Goerg, Siegfried, Goyette, Philippe, Graham, Daniel, Hämäläinen, Eija, Haritunians, Talin, Heap, Graham A., Hiltunen, Mikko, Hoeppner, Marc, Horowitz, Julie E., Irving, Peter, Iyer, Vivek, Jalas, Chaim, Kelsen, Judith, Khalili, Hamed, Kirschner, Barbara S., Kontula, Kimmo, Koskela, Jukka T., Kugathasan, Subra, Kupcinskas, Juozas, Lamb, Christopher A., Laudes, Matthias, Lévesque, Chloé, Levine, Adam P., Lewis, James D., Liefferinckx, Claire, Loescher, Britt-Sabina, Louis, Edouard, Mansfield, John, May, Sandra, McCauley, Jacob L., Mengesha, Emebet, Mni, Myriam, Moayyedi, Paul, Moran, Christopher J., Newberry, Rodney D., O’Charoen, Sirimon, Okou, David T., Oldenburg, Bas, Ostrer, Harry, Palotie, Aarno, Paquette, Jean, Pekow, Joel, Peter, Inga, Pierik, Marieke J., Ponsioen, Cyriel Y., Pontikos, Nikolas, Prescott, Natalie, Pulver, Ann E., Rahmouni, Souad, Rice, Daniel L., Saavalainen, Päivi, Sands, Bruce, Sartor, R. Balfour, Schiff, Elena R., Schreiber, Stefan, Schumm, L. Philip, Segal, Anthony W., Seksik, Philippe, Shawky, Rasha, Sheikh, Shehzad Z., Silverberg, Mark S., Simmons, Alison, Skeiceviciene, Jurgita, Sokol, Harry, Solomonson, Matthew, Somineni, Hari, Sun, Dylan, Targan, Stephan, Turner, Dan, Uhlig, Holm H., van der Meulen, Andrea E., Vermeire, Séverine, Verstockt, Sare, Voskuil, Michiel D., Winter, Harland S., Young, Justine, Duerr, Richard H., Franke, Andre, Brant, Steven R., Cho, Judy, Weersma, Rinse K., Parkes, Miles, Xavier, Ramnik J., Rivas, Manuel A., Rioux, John D., McGovern, Dermot P. B., Huang, Hailiang, Anderson, Carl A., and Daly, Mark J.

Published
2022
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5. Genetic correlations among psychiatric and immune‐related phenotypes based on genome‐wide association data

Author

Tylee, Daniel S, Sun, Jiayin, Hess, Jonathan L, Tahir, Muhammad A, Sharma, Esha, Malik, Rainer, Worrall, Bradford B, Levine, Andrew J, Martinson, Jeremy J, Nejentsev, Sergey, Speed, Doug, Fischer, Annegret, Mick, Eric, Walker, Brian R, Crawford, Andrew, Grant, Struan FA, Polychronakos, Constantin, Bradfield, Jonathan P, Sleiman, Patrick MA, Hakonarson, Hakon, Ellinghaus, Eva, Elder, James T, Tsoi, Lam C, Trembath, Richard C, Barker, Jonathan N, Franke, Andre, Dehghan, Abbas, Team, The 23 and Me Research, Consortium, The Inflammation Working Group of the CHARGE, Consortium, The METASTROKE Consortium of the International Stroke Genetics, Registry, The Netherlands Twin, Group, The neuroCHARGE Working, Consortium, The Obsessive Compulsive and Tourette Syndrome Working Group of the Psychiatric Genomics, Faraone, Stephen V, and Glatt, Stephen J

Subjects
Pharmacology and Pharmaceutical Sciences, Biological Sciences, Biomedical and Clinical Sciences, Genetics, Serious Mental Illness, Human Genome, Genetic Testing, Brain Disorders, Schizophrenia, Digestive Diseases, Prevention, Mental Health, Clinical Research, Autoimmune Disease, 2.1 Biological and endogenous factors, Aetiology, Mental health, Autoimmune Diseases, Comorbidity, Databases, Factual, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Male, Mental Disorders, Multifactorial Inheritance, Polymorphism, Single Nucleotide, White People, allergy, anorexia nervosa, attention deficit-hyperactivity disorder, autoimmune disorder, bipolar disorder, celiac disease, childhood ear infection, C-reactive protein, Crohn's disease, genetic correlation, genome-wide association, hypothyroidism, major depression, neuroticism, obsessive schizophrenia, primary biliary cirrhosis, rheumatoid arthritis, smoking, systemic lupus erythematosus, Tourette syndrome, tuberculosis susceptibility, type 1 diabetes, ulcerative colitis, and Me Research Team, Inflammation Working Group of the CHARGE Consortium, METASTROKE Consortium of the International Stroke Genetics Consortium, Netherlands Twin Registry, neuroCHARGE Working Group, Obsessive Compulsive and Tourette Syndrome Working Group of the Psychiatric Genomics Consortium, Clinical Sciences, Neurosciences, Clinical sciences
Abstract

Individuals with psychiatric disorders have elevated rates of autoimmune comorbidity and altered immune signaling. It is unclear whether these altered immunological states have a shared genetic basis with those psychiatric disorders. The present study sought to use existing summary-level data from previous genome-wide association studies to determine if commonly varying single nucleotide polymorphisms are shared between psychiatric and immune-related phenotypes. We estimated heritability and examined pair-wise genetic correlations using the linkage disequilibrium score regression (LDSC) and heritability estimation from summary statistics methods. Using LDSC, we observed significant genetic correlations between immune-related disorders and several psychiatric disorders, including anorexia nervosa, attention deficit-hyperactivity disorder, bipolar disorder, major depression, obsessive compulsive disorder, schizophrenia, smoking behavior, and Tourette syndrome. Loci significantly mediating genetic correlations were identified for schizophrenia when analytically paired with Crohn's disease, primary biliary cirrhosis, systemic lupus erythematosus, and ulcerative colitis. We report significantly correlated loci and highlight those containing genome-wide associations and candidate genes for respective disorders. We also used the LDSC method to characterize genetic correlations among the immune-related phenotypes. We discuss our findings in the context of relevant genetic and epidemiological literature, as well as the limitations and caveats of the study.

Published
2018

6. Protein-coding variants contribute to the risk of atopic dermatitis and skin-specific gene expression

Author

Mucha, Sören, Baurecht, Hansjörg, Novak, Natalija, Rodríguez, Elke, Bej, Saptarshi, Mayr, Gabriele, Emmert, Hila, Stölzl, Dora, Gerdes, Sascha, Jung, Eun Suk, Degenhardt, Frauke, Hübenthal, Matthias, Ellinghaus, Eva, Kässens, Jan Christian, Wienbrandt, Lars, Lieb, Wolfgang, Müller-Nurasyid, Martina, Hotze, Melanie, Dand, Nick, Grosche, Sarah, Marenholz, Ingo, Arnold, Andreas, Homuth, Georg, Schmidt, Carsten O., Wehkamp, Ulrike, Nöthen, Markus M., Hoffmann, Per, Paternoster, Lavinia, Standl, Marie, Bønnelykke, Klaus, Ahluwalia, Tarunveer S., Bisgaard, Hans, Peters, Annette, Gieger, Christian, Waldenberger, Melanie, Schulz, Holger, Strauch, Konstantin, Werfel, Thomas, Lee, Young-Ae, Wolfien, Markus, Rosenstiel, Philip, Wolkenhauer, Olaf, Schreiber, Stefan, Franke, Andre, Weidinger, Stephan, and Ellinghaus, David

Published
2020
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7. Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

Author

Ellinghaus, David, Jostins, Luke, Spain, Sarah L, Cortes, Adrian, Bethune, Jörn, Han, Buhm, Park, Yu Rang, Raychaudhuri, Soumya, Pouget, Jennie G, Hübenthal, Matthias, Folseraas, Trine, Wang, Yunpeng, Esko, Tonu, Metspalu, Andres, Westra, Harm-Jan, Franke, Lude, Pers, Tune H, Weersma, Rinse K, Collij, Valerie, D'Amato, Mauro, Halfvarson, Jonas, Jensen, Anders Boeck, Lieb, Wolfgang, Degenhardt, Franziska, Forstner, Andreas J, Hofmann, Andrea, Schreiber, Stefan, Mrowietz, Ulrich, Juran, Brian D, Lazaridis, Konstantinos N, Brunak, Søren, Dale, Anders M, Trembath, Richard C, Weidinger, Stephan, Weichenthal, Michael, Ellinghaus, Eva, Elder, James T, Barker, Jonathan NWN, Andreassen, Ole A, McGovern, Dermot P, Karlsen, Tom H, Barrett, Jeffrey C, Parkes, Miles, Brown, Matthew A, and Franke, Andre

Subjects
Biological Sciences, Genetics, Prevention, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Bayes Theorem, Cholangitis, Sclerosing, Chronic Disease, Colitis, Ulcerative, Comorbidity, Crohn Disease, Genetic Heterogeneity, Genetic Pleiotropy, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Inflammation, Psoriasis, Quantitative Trait Loci, Spondylitis, Ankylosing, International IBD Genetics Consortium, International Genetics of Ankylosing Spondylitis Consortium, International PSC Study Group, Genetic Analysis of Psoriasis Consortium, Psoriasis Association Genetics Extension, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and the relationship between these clinically related diseases. Using high-density genotype data from more than 86,000 individuals of European ancestry, we identified 244 independent multidisease signals, including 27 new genome-wide significant susceptibility loci and 3 unreported shared risk loci. Complex pleiotropy was supported when contrasting multidisease signals with expression data sets from human, rat and mouse together with epigenetic and expressed enhancer profiles. The comorbidities among the five immune diseases were best explained by biological pleiotropy rather than heterogeneity (a subgroup of cases genetically identical to those with another disease, possibly owing to diagnostic misclassification, molecular subtypes or excessive comorbidity). In particular, the strong comorbidity between primary sclerosing cholangitis and inflammatory bowel disease is likely the result of a unique disease, which is genetically distinct from classical inflammatory bowel disease phenotypes.

Published
2016

8. A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology.

Author

Hungate, Eric A, Vora, Sapana R, Gamazon, Eric R, Moriyama, Takaya, Best, Timothy, Hulur, Imge, Lee, Younghee, Evans, Tiffany-Jane, Ellinghaus, Eva, Stanulla, Martin, Rudant, Jéremie, Orsi, Laurent, Clavel, Jacqueline, Milne, Elizabeth, Scott, Rodney J, Pui, Ching-Hon, Cox, Nancy J, Loh, Mignon L, Yang, Jun J, Skol, Andrew D, and Onel, Kenan

Subjects
Chromosomes, Human, Pair 9, Humans, Genetic Predisposition to Disease, Case-Control Studies, Chromosome Mapping, Polymorphism, Single Nucleotide, Child, Child, Preschool, Infant, African Americans, European Continental Ancestry Group, Hispanic Americans, Female, Male, Cyclin-Dependent Kinase Inhibitor p15, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Genetic Variation, Genome-Wide Association Study, Preschool, Chromosomes, Human, Pair 9, Polymorphism, Single Nucleotide
Abstract

Paediatric B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) is the most common cancer of childhood, yet little is known about BCP-ALL predisposition. In this study, in 2,187 cases of European ancestry and 5,543 controls, we discover and replicate a locus indexed by rs77728904 at 9p21.3 associated with BCP-ALL susceptibility (Pcombined=3.32 × 10(-15), OR=1.72) and independent from rs3731217, the previously reported ALL-associated variant in this region. Of correlated SNPs tagged by this locus, only rs662463 is significant in African Americans, suggesting it is a plausible causative variant. Functional analysis shows that rs662463 is a cis-eQTL for CDKN2B, with the risk allele associated with lower expression, and suggests that rs662463 influences BCP-ALL risk by regulating CDKN2B expression through CEBPB signalling. Functional analysis of rs3731217 suggests it is associated with BCP-ALL by acting within a splicing regulatory element determining CDKN2A exon 3 usage (P=0.01). These findings provide new insights into the critical role of the CDKN2 locus in BCP-ALL aetiology.

Published
2016

9. Abundant Genetic Overlap between Blood Lipids and Immune-Mediated Diseases Indicates Shared Molecular Genetic Mechanisms

Author

Andreassen, Ole A, Desikan, Rahul S, Wang, Yunpeng, Thompson, Wesley K, Schork, Andrew J, Zuber, Verena, Doncheva, Nadezhda T, Ellinghaus, Eva, Albrecht, Mario, Mattingsdal, Morten, Franke, Andre, Lie, Benedicte A, Mills, Ian, Aukrust, Pål, McEvoy, Linda K, Djurovic, Srdjan, Karlsen, Tom H, and Dale, Anders M

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Crohn's Disease, Digestive Diseases, Prevention, Inflammatory Bowel Disease, Atherosclerosis, Cardiovascular, Human Genome, Arthritis, Autoimmune Disease, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Autoimmune Diseases, Genetic Loci, Genetic Pleiotropy, Genome-Wide Association Study, Histocompatibility Antigens Class I, Histocompatibility Antigens Class II, Humans, Inflammatory Bowel Diseases, Lipoproteins, HDL, Lipoproteins, LDL, Polymorphism, Single Nucleotide, Triglycerides, General Science & Technology
Abstract

Epidemiological studies suggest a relationship between blood lipids and immune-mediated diseases, but the nature of these associations is not well understood. We used genome-wide association studies (GWAS) to investigate shared single nucleotide polymorphisms (SNPs) between blood lipids and immune-mediated diseases. We analyzed data from GWAS (n~200,000 individuals), applying new False Discovery Rate (FDR) methods, to investigate genetic overlap between blood lipid levels [triglycerides (TG), low density lipoproteins (LDL), high density lipoproteins (HDL)] and a selection of archetypal immune-mediated diseases (Crohn's disease, ulcerative colitis, rheumatoid arthritis, type 1 diabetes, celiac disease, psoriasis and sarcoidosis). We found significant polygenic pleiotropy between the blood lipids and all the investigated immune-mediated diseases. We discovered several shared risk loci between the immune-mediated diseases and TG (n = 88), LDL (n = 87) and HDL (n = 52). Three-way analyses differentiated the pattern of pleiotropy among the immune-mediated diseases. The new pleiotropic loci increased the number of functional gene network nodes representing blood lipid loci by 40%. Pathway analyses implicated several novel shared mechanisms for immune pathogenesis and lipid biology, including glycosphingolipid synthesis (e.g. FUT2) and intestinal host-microbe interactions (e.g. ATG16L1). We demonstrate a shared genetic basis for blood lipids and immune-mediated diseases independent of environmental factors. Our findings provide novel mechanistic insights into dyslipidemia and immune-mediated diseases and may have implications for therapeutic trials involving lipid-lowering and anti-inflammatory agents.

Published
2015

11. Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies

Author

Ellinghaus, David, Zhang, Hu, Zeissig, Sebastian, Lipinski, Simone, Till, Andreas, Jiang, Tao, Stade, Björn, Bromberg, Yana, Ellinghaus, Eva, Keller, Andreas, Rivas, Manuel A, Skieceviciene, Jurgita, Doncheva, Nadezhda T, Liu, Xiao, Liu, Qing, Jiang, Fuman, Forster, Michael, Mayr, Gabriele, Albrecht, Mario, Häsler, Robert, Boehm, Bernhard O, Goodall, Jane, Berzuini, Carlo R, Lee, James, Andersen, Vibeke, Vogel, Ulla, Kupcinskas, Limas, Kayser, Manfred, Krawczak, Michael, Nikolaus, Susanna, Weersma, Rinse K, Ponsioen, Cyriel Y, Sans, Miquel, Wijmenga, Cisca, Strachan, David P, McArdle, Wendy L, Vermeire, Séverine, Rutgeerts, Paul, Sanderson, Jeremy D, Mathew, Christopher G, Vatn, Morten H, Wang, Jun, Nöthen, Markus M, Duerr, Richard H, Büning, Carsten, Brand, Stephan, Glas, Jürgen, Winkelmann, Juliane, Illig, Thomas, Latiano, Anna, Annese, Vito, Halfvarson, Jonas, D'Amato, Mauro, Daly, Mark J, Nothnagel, Michael, Karlsen, Tom H, Subramani, Suresh, Rosenstiel, Philip, Schreiber, Stefan, Parkes, Miles, and Franke, Andre

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Nutrition and Dietetics, Biotechnology, Genetics, Inflammatory Bowel Disease, Autoimmune Disease, Human Genome, Clinical Research, Digestive Diseases, Crohn's Disease, Aetiology, 2.1 Biological and endogenous factors, Oral and gastrointestinal, Inflammatory and immune system, Adolescent, Adult, Case-Control Studies, Colitis, Ulcerative, Crohn Disease, Exome, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Mutation, Missense, Nuclear Proteins, Polymorphism, Single Nucleotide, Positive Regulatory Domain I-Binding Factor 1, Quantitative Trait Loci, Repressor Proteins, Young Adult, Whole-Exome Sequencing, Complex Disease, CD, Crohn’s disease, GWAS, IBD, IFN, NF-κB, PBL, PBMC, SNP, SNV, TLR, Toll-like receptor, UC, WT, eQTL, expression quantitative trait locus, genome-wide association studies, inflammatory bowel disease, interferon, nuclear factor κB, peripheral blood lymphocyte, peripheral blood mononuclear cell, qRT-PCR, quantitative reverse-transcription polymerase chain reaction, single nucleotide polymorphism, single nucleotide variant, ulcerative colitis, wild-type, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology, Clinical sciences, Nutrition and dietetics
Abstract

Background & aimsGenome-wide association studies (GWAS) have identified 140 Crohn's disease (CD) susceptibility loci. For most loci, the variants that cause disease are not known and the genes affected by these variants have not been identified. We aimed to identify variants that cause CD through detailed sequencing, genetic association, expression, and functional studies.MethodsWe sequenced whole exomes of 42 unrelated subjects with CD and 5 healthy subjects (controls) and then filtered single nucleotide variants by incorporating association results from meta-analyses of CD GWAS and in silico mutation effect prediction algorithms. We then genotyped 9348 subjects with CD, 2868 subjects with ulcerative colitis, and 14,567 control subjects and associated variants analyzed in functional studies using materials from subjects and controls and in vitro model systems.ResultsWe identified rare missense mutations in PR domain-containing 1 (PRDM1) and associated these with CD. These mutations increased proliferation of T cells and secretion of cytokines on activation and increased expression of the adhesion molecule L-selectin. A common CD risk allele, identified in GWAS, correlated with reduced expression of PRDM1 in ileal biopsy specimens and peripheral blood mononuclear cells (combined P = 1.6 × 10(-8)). We identified an association between CD and a common missense variant, Val248Ala, in nuclear domain 10 protein 52 (NDP52) (P = 4.83 × 10(-9)). We found that this variant impairs the regulatory functions of NDP52 to inhibit nuclear factor κB activation of genes that regulate inflammation and affect the stability of proteins in Toll-like receptor pathways.ConclusionsWe have extended the results of GWAS and provide evidence that variants in PRDM1 and NDP52 determine susceptibility to CD. PRDM1 maps adjacent to a CD interval identified in GWAS and encodes a transcription factor expressed by T and B cells. NDP52 is an adaptor protein that functions in selective autophagy of intracellular bacteria and signaling molecules, supporting the role of autophagy in the pathogenesis of CD.

Published
2013

12. Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Author

Liu, Jimmy Z, Hov, Johannes Roksund, Folseraas, Trine, Ellinghaus, Eva, Rushbrook, Simon M, Doncheva, Nadezhda T, Andreassen, Ole A, Weersma, Rinse K, Weismüller, Tobias J, Eksteen, Bertus, Invernizzi, Pietro, Hirschfield, Gideon M, Gotthardt, Daniel Nils, Pares, Albert, Ellinghaus, David, Shah, Tejas, Juran, Brian D, Milkiewicz, Piotr, Rust, Christian, Schramm, Christoph, Müller, Tobias, Srivastava, Brijesh, Dalekos, Georgios, Nöthen, Markus M, Herms, Stefan, Winkelmann, Juliane, Mitrovic, Mitja, Braun, Felix, Ponsioen, Cyriel Y, Croucher, Peter JP, Sterneck, Martina, Teufel, Andreas, Mason, Andrew L, Saarela, Janna, Leppa, Virpi, Dorfman, Ruslan, Alvaro, Domenico, Floreani, Annarosa, Onengut-Gumuscu, Suna, Rich, Stephen S, Thompson, Wesley K, Schork, Andrew J, Næss, Sigrid, Thomsen, Ingo, Mayr, Gabriele, König, Inke R, Hveem, Kristian, Cleynen, Isabelle, Gutierrez-Achury, Javier, Ricaño-Ponce, Isis, van Heel, David, Björnsson, Einar, Sandford, Richard N, Durie, Peter R, Melum, Espen, Vatn, Morten H, Silverberg, Mark S, Duerr, Richard H, Padyukov, Leonid, Brand, Stephan, Sans, Miquel, Annese, Vito, Achkar, Jean-Paul, Boberg, Kirsten Muri, Marschall, Hanns-Ulrich, Chazouillères, Olivier, Bowlus, Christopher L, Wijmenga, Cisca, Schrumpf, Erik, Vermeire, Severine, Albrecht, Mario, UK-PSCSC Consortium, Rioux, John D, Alexander, Graeme, Bergquist, Annika, Cho, Judy, Schreiber, Stefan, Manns, Michael P, Färkkilä, Martti, Dale, Anders M, Chapman, Roger W, Lazaridis, Konstantinos N, International PSC Study Group, Franke, Andre, Anderson, Carl A, Karlsen, Tom H, and International IBD Genetics Consortium

Subjects
UK-PSCSC Consortium, International PSC Study Group, International IBD Genetics Consortium, Humans, Cholangitis, Sclerosing, Oligonucleotide Array Sequence Analysis, Risk Factors, Case-Control Studies, Gene Frequency, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci, Genetic Pleiotropy, Genotyping Techniques, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci showed significantly stronger association with PSC than with IBD, suggesting overlapping yet distinct genetic architectures for these two diseases. We incorporated association statistics from 7 diseases clinically occurring with PSC in the analysis and found suggestive evidence for 33 additional pleiotropic PSC risk loci. Together with network analyses, these findings add to the genetic risk map of PSC and expand on the relationship between PSC and other immune-mediated diseases.

Published
2013

13. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Author

Tsoi, Lam C, Spain, Sarah L, Knight, Jo, Ellinghaus, Eva, Stuart, Philip E, Capon, Francesca, Ding, Jun, Li, Yanming, Tejasvi, Trilokraj, Gudjonsson, Johann E, Kang, Hyun M, Allen, Michael H, McManus, Ross, Novelli, Giuseppe, Samuelsson, Lena, Schalkwijk, Joost, Ståhle, Mona, Burden, A David, Smith, Catherine H, Cork, Michael J, Estivill, Xavier, Bowcock, Anne M, Krueger, Gerald G, Weger, Wolfgang, Worthington, Jane, Tazi-Ahnini, Rachid, Nestle, Frank O, Hayday, Adrian, Hoffmann, Per, Winkelmann, Juliane, Wijmenga, Cisca, Langford, Cordelia, Edkins, Sarah, Andrews, Robert, Blackburn, Hannah, Strange, Amy, Band, Gavin, Pearson, Richard D, Vukcevic, Damjan, Spencer, Chris CA, Deloukas, Panos, Mrowietz, Ulrich, Schreiber, Stefan, Weidinger, Stephan, Koks, Sulev, Kingo, Külli, Esko, Tonu, Metspalu, Andres, Lim, Henry W, Voorhees, John J, Weichenthal, Michael, Wichmann, H Erich, Chandran, Vinod, Rosen, Cheryl F, Rahman, Proton, Gladman, Dafna D, Griffiths, Christopher EM, Reis, Andre, Kere, Juha, Nair, Rajan P, Franke, Andre, Barker, Jonathan NWN, Abecasis, Goncalo R, Elder, James T, and Trembath, Richard C

Subjects
Genetics, Autoimmune Disease, Human Genome, Psoriasis, Aetiology, 2.1 Biological and endogenous factors, Skin, CARD Signaling Adaptor Proteins, Core Binding Factor Alpha 3 Subunit, DEAD Box Protein 58, DEAD-box RNA Helicases, GTPase-Activating Proteins, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Guanylate Cyclase, Humans, Immunity, Innate, Membrane Proteins, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Receptors, Immunologic, STAT3 Transcription Factor, T-Lymphocytes, White People, Collaborative Association Study of Psoriasis, Genetic Analysis of Psoriasis Consortium, Psoriasis Association Genetics Extension, Wellcome Trust Case Control Consortium 2, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent data sets genotyped on the Immunochip, including 10,588 cases and 22,806 controls. We identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals. We also identified, using conditional analyses, five independent signals within previously known loci. The newly identified loci shared with other autoimmune diseases include candidate genes with roles in regulating T-cell function (such as RUNX3, TAGAP and STAT3). Notably, they included candidate genes whose products are involved in innate host defense, including interferon-mediated antiviral responses (DDX58), macrophage activation (ZC3H12C) and nuclear factor (NF)-κB signaling (CARD14 and CARM1). These results portend a better understanding of shared and distinctive genetic determinants of immune-mediated inflammatory disorders and emphasize the importance of the skin in innate and acquired host defense.

Published
2012

14. Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex

Author

Clay-Gilmour, Alyssa I., Hahn, Theresa, Preus, Leah M., Onel, Kenan, Skol, Andrew, Hungate, Eric, Zhu, Qianqian, Haiman, Christopher A., Stram, Daniel O., Pooler, Loreall, Sheng, Xin, Yan, Li, Liu, Qian, Hu, Qiang, Liu, Song, Battaglia, Sebastiano, Zhu, Xiaochun, Block, AnneMarie W., Sait, Sheila N.J., Karaesmen, Ezgi, Rizvi, Abbas, Weisdorf, Daniel J., Ambrosone, Christine B., Tritchler, David, Ellinghaus, Eva, Ellinghaus, David, Stanulla, Martin, Clavel, Jacqueline, Orsi, Laurent, Spellman, Stephen, Pasquini, Marcelo C., McCarthy, Philip L., and Sucheston-Campbell, Lara E.

Published
2017
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15. Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data

Author

Dunkhase, Eva, Ludwig, Kerstin U., Knapp, Michael, Skibola, Christine F., Figueiredo, Jane C., Hosking, Fay Julie, Ellinghaus, Eva, Landi, Maria Teresa, Ma, Hongxia, Nakagawa, Hidewaki, Kim, Jong-Won, Han, Jiali, Yang, Ping, Böhmer, Anne C., Mattheisen, Manuel, Nöthen, Markus M., and Mangold, Elisabeth

Published
2016
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16. HLA-DPA1*02:01~B1*01:01is a risk haplotype for primary sclerosing cholangitis mediating activation of NKp44+ NK cells

Author

Zecher, Britta F, Ellinghaus, David, Schloer, Sebastian, Niehrs, Annika, Padoan, Benedetta, Baumdick, Martin E, Yuki, Yuko, Martin, Maureen P, Glow, Dawid, Schro¨der-Schwarz, Jennifer, Niersch, Jennifer, Brias, Sébastien, Mu¨ller, Luisa M, Habermann, Robin, Kretschmer, Paul, Fru¨h, Tristan, Da¨nekas, Janis, Wehmeyer, Malte H, Poch, Tobias, Sebode, Marcial, Ellinghaus, Eva, Degenhardt, Frauke, Ko¨rner, Christian, Hoelzemer, Angelique, Fehse, Boris, Oldhafer, Karl J, Schumacher, Udo, Sauter, Guido, Carrington, Mary, Franke, Andre, Bunders, Madeleine J, Schramm, Christoph, and Altfeld, Marcus

Abstract

ObjectivePrimary sclerosing cholangitis (PSC) is characterised by bile duct strictures and progressive liver disease, eventually requiring liver transplantation. Although the pathogenesis of PSC remains incompletely understood, strong associations with HLA-class II haplotypes have been described. As specific HLA-DP molecules can bind the activating NK-cell receptor NKp44, we investigated the role of HLA-DP/NKp44-interactions in PSC.DesignLiver tissue, intrahepatic and peripheral blood lymphocytes of individuals with PSC and control individuals were characterised using flow cytometry, immunohistochemical and immunofluorescence analyses. HLA-DPA1 and HLA-DPB1 imputation and association analyses were performed in 3408 individuals with PSC and 34 213 controls. NK cell activation on NKp44/HLA-DP interactions was assessed in vitro using plate-bound HLA-DP molecules and HLA-DPB wildtype versus knock-out human cholangiocyte organoids.ResultsNKp44+NK cells were enriched in livers, and intrahepatic bile ducts of individuals with PSC showed higher expression of HLA-DP. HLA-DP haplotype analysis revealed a highly elevated PSC risk for HLA-DPA1*02:01~B1*01:01(OR 1.99, p=6.7×10−50). Primary NKp44+NK cells exhibited significantly higher degranulation in response to plate-bound HLA-DPA1*02:01-DPB1*01:01 compared with control HLA-DP molecules, which were inhibited by anti-NKp44-blocking. Human cholangiocyte organoids expressing HLA-DPA1*02:01-DPB1*01:01 after IFN-γ-exposure demonstrated significantly increased binding to NKp44-Fc constructs compared with unstimulated controls. Importantly, HLA-DPA1*02:01-DPB1*01:01-expressing organoids increased degranulation of NKp44+NK cells compared with HLA-DPB1-KO organoids.ConclusionOur studies identify a novel PSC risk haplotype HLA-DP A1*02:01~DPB1*01:01and provide clinical and functional data implicating NKp44+NK cells that recognise HLA-DPA1*02:01-DPB1*01:01 expressed on cholangiocytes in PSC pathogenesis.

Published
2024
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17. Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture

Author

Stuart, Philip E., Nair, Rajan P., Tsoi, Lam C., Tejasvi, Trilokraj, Das, Sayantan, Kang, Hyun Min, Ellinghaus, Eva, Chandran, Vinod, Callis-Duffin, Kristina, Ike, Robert, Li, Yanming, Wen, Xiaoquan, Enerbäck, Charlotta, Gudjonsson, Johann E., Kõks, Sulev, Kingo, Külli, Esko, Tõnu, Mrowietz, Ulrich, Reis, Andre, Wichmann, H. Erich, Gieger, Christian, Hoffmann, Per, Nöthen, Markus M., Winkelmann, Juliane, Kunz, Manfred, Moreta, Elvia G., Mease, Philip J., Ritchlin, Christopher T., Bowcock, Anne M., Krueger, Gerald G., Lim, Henry W., Weidinger, Stephan, Weichenthal, Michael, Voorhees, John J., Rahman, Proton, Gregersen, Peter K., Franke, Andre, Gladman, Dafna D., Abecasis, Gonçalo R., and Elder, James T.

Published
2015
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18. Imputation of KIR Types from SNP Variation Data

Author

Vukcevic, Damjan, Traherne, James A., Næss, Sigrid, Ellinghaus, Eva, Kamatani, Yoichiro, Dilthey, Alexander, Lathrop, Mark, Karlsen, Tom H., Franke, Andre, Moffatt, Miriam, Cookson, William, Trowsdale, John, McVean, Gil, Sawcer, Stephen, and Leslie, Stephen

Published
2015
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19. Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms

Author

Baurecht, Hansjörg, Hotze, Melanie, Brand, Stephan, Büning, Carsten, Cormican, Paul, Corvin, Aiden, Ellinghaus, David, Ellinghaus, Eva, Esparza-Gordillo, Jorge, Fölster-Holst, Regina, Franke, Andre, Gieger, Christian, Hubner, Norbert, Illig, Thomas, Irvine, Alan D., Kabesch, Michael, Lee, Young A.E., Lieb, Wolfgang, Marenholz, Ingo, McLean, W.H. Irwin, Morris, Derek W., Mrowietz, Ulrich, Nair, Rajan, Nöthen, Markus M., Novak, Natalija, O’Regan, Grainne M., Schreiber, Stefan, Smith, Catherine, Strauch, Konstantin, Stuart, Philip E., Trembath, Richard, Tsoi, Lam C., Weichenthal, Michael, Barker, Jonathan, Elder, James T., Weidinger, Stephan, Cordell, Heather J., and Brown, Sara J.

Published
2015
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20. Fine Mapping Major Histocompatibility Complex Associations in Psoriasis and Its Clinical Subtypes

Author

Okada, Yukinori, Han, Buhm, Tsoi, Lam C., Stuart, Philip E., Ellinghaus, Eva, Tejasvi, Trilokraj, Chandran, Vinod, Pellett, Fawnda, Pollock, Remy, Bowcock, Anne M., Krueger, Gerald G., Weichenthal, Michael, Voorhees, John J., Rahman, Proton, Gregersen, Peter K., Franke, Andre, Nair, Rajan P., Abecasis, Gonçalo R., Gladman, Dafna D., Elder, James T., de Bakker, Paul I.W., and Raychaudhuri, Soumya

Published
2014
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22. Genetic signature to provide robust risk assessment of psoriatic arthritis development in psoriasis patients

Author

Patrick, Matthew T., Stuart, Philip E., Raja, Kalpana, Gudjonsson, Johann E., Tejasvi, Trilokraj, Yang, Jingjing, Chandran, Vinod, Das, Sayantan, Callis-Duffin, Kristina, Ellinghaus, Eva, Enerbäck, Charlotta, Esko, Tõnu, Franke, Andre, Kang, Hyun M., Krueger, Gerald G., Lim, Henry W., Rahman, Proton, Rosen, Cheryl F., Weidinger, Stephan, Weichenthal, Michael, Wen, Xiaoquan, Voorhees, John J., Abecasis, Gonçalo R., Gladman, Dafna D., Nair, Rajan P., Elder, James T., and Tsoi, Lam C.

Published
2018
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23. Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

Author

Dand, Nick, Mucha, Sören, Tsoi, Lam C, Mahil, Satveer K, Stuart, Philip E, Arnold, Andreas, Baurecht, Hansjörg, Burden, A David, Callis Duffin, Kristina, Chandran, Vinod, Curtis, Charles J, Das, Sayantan, Ellinghaus, David, Ellinghaus, Eva, Enerback, Charlotta, Esko, Tõnu, Gladman, Dafna D, Griffiths, Christopher E M, Gudjonsson, Johann E, Hoffman, Per, Homuth, Georg, Hüffmeier, Ulrike, Krueger, Gerald G, Laudes, Matthias, Lee, Sang Hyuck, Lieb, Wolfgang, Lim, Henry W, Löhr, Sabine, Mrowietz, Ulrich, Müller-Nurayid, Martina, Nöthen, Markus, Peters, Annette, Rahman, Proton, Reis, André, Reynolds, Nick J, Rodriguez, Elke, Schmidt, Carsten O, Spain, Sarah L, Strauch, Konstantin, Tejasvi, Trilokraj, Voorhees, John J, Warren, Richard B, Weichenthal, Michael, Weidinger, Stephan, Zawistowski, Matthew, Nair, Rajan P, Capon, Francesca, Smith, Catherine H, Trembath, Richard C, Abecasis, Goncalo R, Elder, James T, Franke, Andre, Simpson, Michael A, and Barker, Jonathan N

Published
2017
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24. Microbiomarkers in inflammatory bowel diseases: caveats come with caviar

Author

Sommer, Felix, Rühlemann, Malte Christoph, Bang, Corinna, Höppner, Marc, Rehman, Ateequr, Kaleta, Christoph, Schmitt-Kopplin, Phillippe, Dempfle, Astrid, Weidinger, Stephan, Ellinghaus, Eva, Krauss-Etschmann, Susanne, Schmidt-Arras, Dirk, Aden, Konrad, Schulte, Dominik, Ellinghaus, David, Schreiber, Stefan, Tholey, Andreas, Rupp, Jan, Laudes, Matthias, Baines, John F, Rosenstiel, Philip, and Franke, Andre

Published
2017
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25. Genomics and drug profiling of fatal TCF3-HLF−positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options

Author

Fischer, Ute, Forster, Michael, Rinaldi, Anna, Risch, Thomas, Sungalee, Stéphanie, Warnatz, Hans-Jörg, Bornhauser, Beat, Gombert, Michael, Kratsch, Christina, Stütz, Adrian M, Sultan, Marc, Tchinda, Joelle, Worth, Catherine L, Amstislavskiy, Vyacheslav, Badarinarayan, Nandini, Baruchel, André, Bartram, Thies, Basso, Giuseppe, Canpolat, Cengiz, Cario, Gunnar, Cavé, Hélène, Dakaj, Dardane, Delorenzi, Mauro, Dobay, Maria Pamela, Eckert, Cornelia, Ellinghaus, Eva, Eugster, Sabrina, Frismantas, Viktoras, Ginzel, Sebastian, Haas, Oskar A, Heidenreich, Olaf, Hemmrich-Stanisak, Georg, Hezaveh, Kebria, Höll, Jessica I, Hornhardt, Sabine, Husemann, Peter, Kachroo, Priyadarshini, Kratz, Christian P, Kronnie, Geertruy te, Marovca, Blerim, Niggli, Felix, McHardy, Alice C, Moorman, Anthony V, Panzer-Grümayer, Renate, Petersen, Britt S, Raeder, Benjamin, Ralser, Meryem, Rosenstiel, Philip, Schäfer, Daniel, Schrappe, Martin, Schreiber, Stefan, Schütte, Moritz, Stade, Björn, Thiele, Ralf, Weid, Nicolas von der, Vora, Ajay, Zaliova, Marketa, Zhang, Langhui, Zichner, Thomas, Zimmermann, Martin, Lehrach, Hans, Borkhardt, Arndt, Bourquin, Jean-Pierre, Franke, Andre, Korbel, Jan O, Stanulla, Martin, and Yaspo, Marie-Laure

Published
2015
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26. Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci

Author

Folseraas, Trine, Melum, Espen, Rausch, Philipp, Juran, Brian D., Ellinghaus, Eva, Shiryaev, Alexey, Laerdahl, Jon K., Ellinghaus, David, Schramm, Christoph, Weismüller, Tobias J., Gotthardt, Daniel Nils, Hov, Johannes Roksund, Clausen, Ole Petter, Weersma, Rinse K., Janse, Marcel, Boberg, Kirsten Muri, Björnsson, Einar, Marschall, Hanns-Ulrich, Cleynen, Isabelle, Rosenstiel, Philip, Holm, Kristian, Teufel, Andreas, Rust, Christian, Gieger, Christian, Wichmann, H-Erich, Bergquist, Annika, Ryu, Euijung, Ponsioen, Cyriel Y., Runz, Heiko, Sterneck, Martina, Vermeire, Severine, Beuers, Ulrich, Wijmenga, Cisca, Schrumpf, Erik, Manns, Michael P., Lazaridis, Konstantinos N., Schreiber, Stefan, Baines, John F., Franke, Andre, and Karlsen, Tom H.

Published
2012
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27. Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility Loci

Author

Ellinghaus, David, Ellinghaus, Eva, Nair, Rajan P., Stuart, Philip E., Esko, Tõnu, Metspalu, Andres, Debrus, Sophie, Raelson, John V., Tejasvi, Trilokraj, Belouchi, Majid, West, Sarah L., Barker, Jonathan N., Kõks, Sulev, Kingo, Külli, Balschun, Tobias, Palmieri, Orazio, Annese, Vito, Gieger, Christian, Wichmann, H. Erich, Kabesch, Michael, Trembath, Richard C., Mathew, Christopher G., Abecasis, Gonçalo R., Weidinger, Stephan, Nikolaus, Susanna, Schreiber, Stefan, Elder, James T., Weichenthal, Michael, Nothnagel, Michael, and Franke, Andre

Published
2012
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28. Genome-Wide Meta-Analysis of Psoriatic Arthritis Identifies Susceptibility Locus at REL

Author

Ellinghaus, Eva, Stuart, Philip E., Ellinghaus, David, Nair, Rajan P., Debrus, Sophie, Raelson, John V., Belouchi, Majid, Tejasvi, Trilokraj, Li, Yanming, Tsoi, Lam C., Onken, Anna T., Esko, Tonu, Metspalu, Andres, Rahman, Proton, Gladman, Dafna D., Bowcock, Anne M., Helms, Cynthia, Krueger, Gerald G., Koks, Sulev, Kingo, Külli, Gieger, Christian, Erich Wichmann, H., Mrowietz, Ulrich, Weidinger, Stephan, Schreiber, Stefan, Abecasis, Gonçalo R., Elder, James T., Weichenthal, Michael, and Franke, Andre

Published
2012
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30. Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia

Author

Bartram, Thies, primary, Schütte, Peter, additional, Möricke, Anja, additional, Houlston, Richard S., additional, Ellinghaus, Eva, additional, Zimmermann, Martin, additional, Bergmann, Anke, additional, Löscher, Britt-Sabina, additional, Klein, Norman, additional, Hinze, Laura, additional, Junk, Stefanie V., additional, Forster, Michael, additional, Bartram, Claus R., additional, Köhler, Rolf, additional, Franke, Andre, additional, Schrappe, Martin, additional, Kratz, Christian P., additional, Cario, Gunnar, additional, and Stanulla, Martin, additional

Published
2021
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31. Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk

Author

Fischer, Annegret, Ellinghaus, David, Nutsua, Marcel, Hofmann, Sylvia, Montgomery, Courtney G., Iannuzzi, Michael C., Rybicki, Benjamin A., Petrek, Martin, Mrazek, Frantisek, Pabst, Stefan, Grohé, Christian, Grunewald, Johan, Ronninger, Marcus, Eklund, Anders, Padyukov, Leonid, Mihailovic-Vucinic, Violeta, Jovanovic, Dragana, Sterclova, Martina, Homolka, Jiri, Nöthen, Markus M., Herms, Stefan, Gieger, Christian, Strauch, Konstantin, Winkelmann, Juliane, Boehm, Bernhard O., Brand, Stephan, Büning, Carsten, Schürmann, Manfred, Ellinghaus, Eva, Baurecht, Hansjörg, Lieb, Wolfgang, Nebel, Almut, Müller-Quernheim, Joachim, Franke, Andre, and Schreiber, Stefan

Published
2015
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32. Gene expression in skin and lymphoblastoid cells: refined statistical method reveals extensive overlap in cis-eQTL signals

Author

Jun Ding, Gudjonsson, Johann E., Liming Liang, Stuart, Philip E., Yun Li, Wei Chen, Weichenthal, Michael, Ellinghaus, Eva, Franke, Andre, Cookson, William, Nair, Rajan P., Elder, James T., and Abecasis, Goncalo R.

Subjects
Gene expression -- Analysis, Genetic variation -- Analysis, Genetic susceptibility -- Analysis, Quantitative trait loci -- Analysis, Biological sciences
Abstract

RNA extracted from skin biopsies of 53 psoriatic individuals and 57 healthy controls were used to identify 841 cis-acting expression quantitative trait locus (eQTL) and gain better insight into the role of genetic variants regulating cutaneous gene expression. The study provides a useful method to assess the overlap between various eQTL studies and a catalog of cis-eQTLs in skin that could be applied to better understand the functional impact of identified susceptibility variants on psoriasis and other skin traits.

Published
2010

33. Frequent and sex-biased deletion of SLX4IP by illegitimate V(D)J-mediated recombination in childhood acute lymphoblastic leukemia

Author

Meissner, Barbara, Bartram, Thies, Eckert, Cornelia, Trka, Jan, Panzer-Grümayer, Renate, Hermanova, Ivana, Ellinghaus, Eva, Franke, Andre, Möricke, Anja, Schrauder, André, Teigler-Schlegel, Andrea, Dörge, Petra, von Stackelberg, Arend, Basso, Giuseppe, Bartram, Claus R., Kirschner-Schwabe, Renate, Bornhäuser, Beat, Bourquin, Jean-Pierre, Cazzaniga, Giovanni, Hauer, Julia, Attarbaschi, Andishe, Izraeli, Shai, Zaliova, Marketa, Cario, Gunnar, Zimmermann, Martin, Avigad, Smadar, Sokalska-Duhme, Magdalena, Metzler, Markus, Schrappe, Martin, Koehler, Rolf, te Kronnie, Geertruy, and Stanulla, Martin

Published
2014
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34. Large-Scale Imputation of KIR Copy Number and HLA Alleles in North American and European Psoriasis Case-Control Cohorts Reveals Association of Inhibitory KIR2DL2 With Psoriasis

Author

Ahn, Richard, primary, Vukcevic, Damjan, additional, Motyer, Allan, additional, Nititham, Joanne, additional, Squire, David McG., additional, Hollenbach, Jill A., additional, Norman, Paul J., additional, Ellinghaus, Eva, additional, Nair, Rajan P., additional, Tsoi, Lam C., additional, Oksenberg, Jorge, additional, Foerster, John, additional, Lieb, Wolfgang, additional, Weidinger, Stephan, additional, Franke, Andre, additional, Elder, James T., additional, Jorgenson, Eric, additional, Leslie, Stephen, additional, and Liao, Wilson, additional

Published
2021
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35. Publisher Correction:Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

Author

Thaventhiran, James E.D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H.R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, and ACS - Atherosclerosis & ischemic syndromes

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020
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36. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Author

Thaventhiran, James E. D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V. V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C., Tait, R. Campbell, Chalmers, Elizabeth, Hague, Rosie, Maxwell, Heather, Peacock, Andrew J., Mark, Patrick B., and Muir, Keith W.

Abstract

Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies1,2,3. Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genetics is not well defined. Here we address these challenges by performing whole-genome sequencing in a large PID cohort of 1,318 participants. An analysis of the coding regions of the genome in 886 index cases of PID found that disease-causing mutations in known genes that are implicated in monogenic PID occurred in 10.3% of these patients, and a Bayesian approach (BeviMed4) identified multiple new candidate PID-associated genes, including IVNS1ABP. We also examined the noncoding genome, and found deletions in regulatory regions that contribute to disease causation. In addition, we used a genome-wide association study to identify loci that are associated with PID, and found evidence for the colocalization of—and interplay between—novel high-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci). This begins to explain the contribution of common variants to the variable penetrance and phenotypic complexity that are observed in PID. Thus, using a cohort-based whole-genome-sequencing approach in the diagnosis of PID can increase diagnostic yield and further our understanding of the key pathways that influence immune responsiveness in humans.

Published
2020

37. Genome-Wide Association Analysis in Primary Sclerosing Cholangitis And Ulcerative Colitis Identifies Risk Loci at Gpr35 And Tcf4

Author

Ellinghaus, David, Folseraas, Trine, Holm, Kristian, Ellinghaus, Eva, Melum, Espen, Balschun, Tobias, Laerdahl, Jon K., Shiryaev, Alexey, Gotthardt, Daniel N., Weismüller, Tobias J., Schramm, Christoph, Wittig, Michael, Bergquist, Annika, Björnsson, Einar, Marschall, Hanns-Ulrich, Vatn, Morten, Teufel, Andreas, Rust, Christian, Gieger, Christian, Wichmann, H-Erich, Runz, Heiko, Sterneck, Martina, Rupp, Christian, Braun, Felix, Weersma, Rinse K., Wijmenga, Cisca, Ponsioen, Cyriel Y., Mathew, Christopher G., Rutgeerts, Paul, Vermeire, Séverine, Schrumpf, Erik, Hov, Johannes R., Manns, Michael P., Boberg, Kirsten M., Schreiber, Stefan, Franke, Andre, and Karlsen, Tom H.

Published
2013
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39. Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9

Author

Janse, Marcel, Lamberts, Laetitia E., Franke, Lude, Raychaudhuri, Soumya, Ellinghaus, Eva, Boberg, Kirsten Muri, Melum, Espen, Folseraas, Trine, Schrumpf, Erik, Bergquist, Annika, Björnsson, Einar, Fu, Jingyuan, Westra, Harm Jan, Groen, Harry J.M., Fehrmann, Rudolf S.N., Smolonska, Joanna, van den Berg, Leonard H., Ophoff, Roel A., Porte, Robert J., Weismüller, Tobias J., Wedemeyer, Jochen, Schramm, Christoph, Sterneck, Martina, Günther, Rainer, Braun, Felix, Vermeire, Severine, Henckaerts, Liesbet, Wijmenga, Cisca, Ponsioen, Cyriel Y., Schreiber, Stefan, Karlsen, Tom H., Franke, Andre, and Weersma, Rinse K.

Published
2011
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40. Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences

Author

Thaventhiran, James E. D., Allen, Hana Lango, Burren, Oliver S., Farmery, James H. R., Staples, Emily, Zhang, Zinan, Rae, William, Greene, Daniel, Simeoni, Ilenia, Maimaris, Jesmeen, Penkett, Chris, Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S, Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel, Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Lyons, Paul A., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H, Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., and Smith, Kenneth G. C.

Abstract

Primary immunodeficiency (PID) is characterised by recurrent and often life-threatening infections, autoimmunity and cancer, and it presents major diagnostic and therapeutic challenges. Although the most severe forms present in early childhood, the majority of patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent, and up to 10% develop lymphoid malignancies. Consequently, in sporadic PID genetic diagnosis is difficult and the role of genetics is not well defined. We addressed these challenges by performing whole genome sequencing (WGS) of a large PID cohort of 1,318 subjects. Analysis of coding regions of 886 index cases found disease-causing mutations in known monogenic PID genes in 8.2%, while a Bayesian approach (BeviMed 1 ) identified multiple potential new disease-associated genes. Exploration of the non-coding space revealed deletions in regulatory regions which contribute to disease causation. Finally, a genome-wide association study (GWAS) identified novel PID-associated loci and uncovered evidence for co-localisation of, and interplay between, novel high penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci). This begins to explain the contribution of common variants to variable penetrance and phenotypic complexity in PID. Thus, a cohort-based WGS approach to PID diagnosis can increase diagnostic yield while deepening our understanding of the key pathways determining variation in human immune responsiveness.

Published
2018
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41. Genome‐wide association study of psoriasis in an Egyptian population

Author

Bejaoui, Yosra, primary, Witte, Mareike, additional, Abdelhady, Mohamed, additional, Eldarouti, Mohammad, additional, Abdallah, Nermeen M. A., additional, Elghzaly, Ashraf Antar, additional, Tawhid, Ziyad, additional, Gaballah, Mohammad Ali, additional, Busch, Hauke, additional, Munz, Matthias, additional, Wendorff, Mareike, additional, Ellinghaus, Eva, additional, Franke, Andre, additional, and Ibrahim, Saleh M., additional

Published
2019
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42. High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis

Author

Goyette, Philippe, Boucher, Gabrielle, Mallon, Dermot, Ellinghaus, Eva, Jostins, Luke, Huang, Hailiang, Ripke, Stephan, Gusareva, Elena S., Annese, Vito, Hauser, Stephen L., Oksenberg, Jorge R., Thomsen, Ingo, Leslie, Stephen, Daly, Mark J., Van Steen, Kristel, Duerr, Richard H., Barrett, Jeffrey C., Mcgovern, Dermot P. B., Schumm, L. Philip, Traherne, James A., Carrington, Mary N., Kosmoliaptsis, Vasilis, Karlsen, Tom H., Franke, Andre, Rioux, John D., Abraham, Clara, Achkar, Jean Paul, Ahmad, Tariq, Amininejad, Leila, Ananthakrishnan, Ashwin N., Andersen, Vibeke, Anderson, Carl A., Andrews, Jane M., Aumais, Guy, Baidoo, Leonard, Baldassano, Robert N., Balschun, Tobias, Bampton, Peter A., Barclay, Murray, Bayless, Theodore M., Bethge, Johannes, Bis, Joshua C., Bitton, Alain, Brand, Stephan, Brant, Steven R., Buning, Carsten, Chew, Angela, Cho, Judy H., Cleynen, Isabelle, Cohain, Ariella, Croft, Anthony, D'Amato, Mauro, Danese, Silvio, De Jong, Dirk, De Vos, Martine, Denapiene, Goda, Denson, Lee A., Devaney, Kathy L., Dewit, Olivier, D'Inca, Renata, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Essers, Jonah, Ferguson, Lynnette R., Festen, Eleonora A., Fleshner, Philip, Florin, Tim, Franchimont, Denis, Fransen, Karin, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jurgen, Green, Todd, Griffiths, Anne M., Guthery, Stephen L., Hakonarson, Hakon, Halfvarson, Jonas, Hanigan, Katherine, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hayward, Nicholas K., Hedl, Matija, Henderson, Paul, Xinli, Hu, Hui, Ken Y., Imielinski, Marcin, Ippoliti, Andrew, Jonaitis, Laimas, Kennedy, Nicholas A., Khan, Mohammed Azam, Kiudelis, Gediminas, Kugathasan, Subra, Kupcinskas, Limas, Latiano, Anna, Laukens, Debby, Lawrance, Ian C., Lee, James C., Lees, Charlie W., Leja, Marcis, Van Limbergen, Johan, Lionetti, Paolo, Liu, Jimmy Z., Louis, Edouard, Mahy, Gillian, Mansfield, John, Massey, Dunecan, Mathew, Christopher G., Milgrom, Raquel, Mitrovic, Mitja, Montgomery, Grant, Mowat, Craig, Newman, Wwilliam, Aylwin, Ng, Siew C., Ng, Evelyn Ng, Sok Meng, Nikolaus, Susanna, Ning, Kaida, Nothen, Markus, Oikonomou, Ioannis, Palmieri, Orazio, Parkes, Miles, Phillips, Anne, Ponsioen, Cyriel Y., Potocnik, Uros, Prescott, Natalie J., Proctor, Deborah D., Radford Smith, Graham, Rahier, Jean Francois, Raychaudhur, Soumya, Regueiro, Miguel, Rieder, Florian, Roberts, Rebecca, Russell, Richard K., Sanderson, Jeremy D., Sans, Miquel, Satsangi, Jack, Schadt, Eric E., Schreiber, Stefan, Scott, Regan, Seielstad, Mark, Sharma, Yashoda, Silverberg, Mark S., Simms, Lisa A., Skieceviciene, Jurgita, Spain, Sarah L., Steinhart, A. Hillary, Stempak, Joanne M., Stronati, Laura, Sventoraityte, Jurgita, Targan, Stephan R., Taylor, Kirstin M., Ter Velde, Anje, Theatre, Emilie, Torkvist, Leif, Tremelling, Mark, Van Der Meulen, Andrea, Van Sommeren, Suzanne, Vasiliauskas, Eric, Vermeire, Severine, Verspaget, Hein W., Walters, Thomas, Wwang, Kai, Wwang, Ming Hsi, Wweersma, Rinse K., Wei, Zhi, Whiteman, David, Wijmenga, Cisca, Wilson, David C., Winkelmann, Juliane, Xavier, Ramnik J., Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K., Zhang, Hu, Zhang, Wwei, Zhao, Hongyu, Zhao, Zhen Z., Gastroenterology and Hepatology, Traherne, James [0000-0002-6003-8559], Kosmoliaptsis, Vasilis [0000-0001-7298-1387], and Apollo - University of Cambridge Repository

Subjects
Heterozygote, Genotype, Genotyping Techniques, Genetic Linkage, Ulcerative, Human leukocyte antigen, Biology, Major histocompatibility complex, Polymorphism, Single Nucleotide, Article, Primary sclerosing cholangitis, Major Histocompatibility Complex, Alleles, Chromosome Mapping, Colitis, Ulcerative, Crohn Disease, Genetic Predisposition to Disease, Genome-Wide Association Study, HLA-DRB1 Chains, Humans, Inflammatory Bowel Diseases, Phenotype, Genetics, medicine, HLA-DR, Polymorphism, Colitis, HLA-DRB1, Crohn's disease, Single Nucleotide, medicine.disease, Ulcerative colitis, digestive system diseases, Immunology, biology.protein
Abstract

Genome-wide association studies of the related chronic inflammatory bowel diseases (IBD) known as Crohn's disease and ulcerative colitis have shown strong evidence of association to the major histocompatibility complex (MHC). This region encodes a large number of immunological candidates, including the antigen-presenting classical human leukocyte antigen (HLA) molecules. Studies in IBD have indicated that multiple independent associations exist at HLA and non-HLA genes, but they have lacked the statistical power to define the architecture of association and causal alleles. To address this, we performed high-density SNP typing of the MHC in >32,000 individuals with IBD, implicating multiple HLA alleles, with a primary role for HLA-DRB1*01:03 in both Crohn's disease and ulcerative colitis. Noteworthy differences were observed between these diseases, including a predominant role for class II HLA variants and heterozygous advantage observed in ulcerative colitis, suggesting an important role of the adaptive immune response in the colonic environment in the pathogenesis of IBD.

Published
2015
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43. Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles

Author

Degenhardt, Frauke, primary, Wendorff, Mareike, additional, Wittig, Michael, additional, Ellinghaus, Eva, additional, Datta, Lisa W, additional, Schembri, John, additional, Ng, Siew C, additional, Rosati, Elisa, additional, Hübenthal, Matthias, additional, Ellinghaus, David, additional, Jung, Eun Suk, additional, Lieb, Wolfgang, additional, Abedian, Shifteh, additional, Malekzadeh, Reza, additional, Cheon, Jae Hee, additional, Ellul, Pierre, additional, Sood, Ajit, additional, Midha, Vandana, additional, Thelma, B K, additional, Wong, Sunny H, additional, Schreiber, Stefan, additional, Yamazaki, Keiko, additional, Kubo, Michiaki, additional, Boucher, Gabrielle, additional, Rioux, John D, additional, Lenz, Tobias L, additional, Brant, Steven R, additional, and Franke, Andre, additional

Published
2018
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45. Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea

Author

Tronstad, Rune R., primary, Polushina, Tatiana, additional, Brattbakk, Hans-Richard, additional, Stansberg, Christine, additional, von Volkmann, Hilde Løland, additional, Hanevik, Kurt, additional, Ellinghaus, Eva, additional, Jørgensen, Silje Fjellgård, additional, Ersland, Kari Merete, additional, Pham, Khanh D.-C., additional, Gilja, Odd Helge, additional, Hovdenak, Nils, additional, Hausken, Trygve, additional, Vatn, Morten H., additional, Franke, Andre, additional, Knappskog, Per Morten, additional, Le Hellard, Stephanie, additional, Karlsen, Tom Hemming, additional, and Fiskerstrand, Torunn, additional

Published
2018
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47. Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

Author

Tsoi, Lam C., Stuart, Philip E., Tian, Chao, Gudjonsson, Johann E., Das, Sayantan, Zawistowski, Matthew, Ellinghaus, Eva, Barker, Jonathan N., Chandran, Vinod, Dand, Nick, Callis Duffin, Kristina, Enerbäck, Charlotta, Esko, Tonu, Franke, Andre, Gladman, Dafna D., Hoffmann, Per, Kingo, Kulli, Koks, Sulev, Krueger, Gerald G., Lim, Henry W., Metspalu, Andres, Mrowietz, Ulrich, Mucha, Soren, Rahman, Proton, Reis, Andre, Tejasvi, Trilokraj, Trembath, Richard, Voorhees, John J., Weidinger, Stephan, Weichenthal, Michael, Wen, Xiaoquan, Eriksson, Nicholas, Kang, Hyun M., Hinds, David A., Nair, Rajan P., Abecasis, Goncalo R., Elder, James T., Tsoi, Lam C., Stuart, Philip E., Tian, Chao, Gudjonsson, Johann E., Das, Sayantan, Zawistowski, Matthew, Ellinghaus, Eva, Barker, Jonathan N., Chandran, Vinod, Dand, Nick, Callis Duffin, Kristina, Enerbäck, Charlotta, Esko, Tonu, Franke, Andre, Gladman, Dafna D., Hoffmann, Per, Kingo, Kulli, Koks, Sulev, Krueger, Gerald G., Lim, Henry W., Metspalu, Andres, Mrowietz, Ulrich, Mucha, Soren, Rahman, Proton, Reis, Andre, Tejasvi, Trilokraj, Trembath, Richard, Voorhees, John J., Weidinger, Stephan, Weichenthal, Michael, Wen, Xiaoquan, Eriksson, Nicholas, Kang, Hyun M., Hinds, David A., Nair, Rajan P., Abecasis, Goncalo R., and Elder, James T.

Abstract

Psoriasis is a complex disease of skin with a prevalence of about 2%. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for psoriasis to date, including data from eight different Caucasian cohorts, with a combined effective sample size amp;gt;39,000 individuals. We identified 16 additional psoriasis susceptibility loci achieving genome-wide significance, increasing the number of identified loci to 63 for European-origin individuals. Functional analysis highlighted the roles of interferon signalling and the NFkB cascade, and we showed that the psoriasis signals are enriched in regulatory elements from different T cells (CD8(+) T-cells and CD4(+) T-cells including T(H)0, T(H)1 and T(H)17). The identified loci explain similar to 28% of the genetic heritability and generate a discriminatory genetic risk score (AUC = 0.76 in our sample) that is significantly correlated with age at onset (p = 2 x 10(-89)). This study provides a comprehensive layout for the genetic architecture of common variants for psoriasis., Funding Agencies|National Institutes of Health [R01AR042742, R01AR050511, R01AR054966, R01AR063611, R01AR065183]; Foundation for the National Institutes of Health; Dermatology Foundation; National Psoriasis Foundation; Arthritis National Research Foundation; Ann Arbor Veterans Affairs Hospital; Dawn and Dudley Holmes Foundation; Babcock Memorial Trust; Medical Research Council [MR/L011808/1]; German Ministry of Education and Research (BMBF); Doris Duke Foundation [2013106]; National Institute of Health [K08AR060802, R01AR06907]; Taubman Medical Research Institute; Department of Health via the NIHR comprehensive Biomedical Research Center; Kings College London; KCH NHS Foundation Trust; Barbara and Neal Henschel Charitable Foundation; Heinz Nixdorf Foundation; Estonian Ministry of Education and Research [IUT20-46]; Centre of Translational Genomics of University of Tartu (SP1GVARENG); European Regional Development Fund (Centre of Translational Medicine, University of Tartu); German Federal Ministry of Education and Research (BMBF); National Human Genome Research Institute of the National Institutes of Health [R44HG006981]; International Psoriasis Council

Published
2017
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48. Frequent and sex-biased deletion of SLX4IP by illegitimate V(D)J-mediated recombination in childhood acute lymphoblastic leukemia

Author

Meissner, Barbara, Bartram, Thies, Eckert, Cornelia, Trka, Jan, Panzer-Grümayer, Renate, Hermanova, Ivana, Ellinghaus, Eva, Franke, Andre, Möricke, Anja, Schrauder, André, Teigler-Schlegel, Andrea, Dörge, Petra, von Stackelberg, Arend, Basso, Giuseppe, Bartram, Claus R., Kirschner-Schwabe, Renate, Bornhäuser, Beat, Bourquin, Jean-Pierre, Cazzaniga, Giovanni, Hauer, Julia, Attarbaschi, Andishe, Izraeli, Shai, Zaliova, Marketa, Cario, Gunnar, Zimmermann, Martin, Avigad, Smadar, Sokalska-Duhme, Magdalena, Metzler, Markus, Schrappe, Martin, Koehler, Rolf, te Kronnie, Geertruy, Stanulla, Martin, Meissner, Barbara, Bartram, Thies, Eckert, Cornelia, Trka, Jan, Panzer-Grümayer, Renate, Hermanova, Ivana, Ellinghaus, Eva, Franke, Andre, Möricke, Anja, Schrauder, André, Teigler-Schlegel, Andrea, Dörge, Petra, von Stackelberg, Arend, Basso, Giuseppe, Bartram, Claus R., Kirschner-Schwabe, Renate, Bornhäuser, Beat, Bourquin, Jean-Pierre, Cazzaniga, Giovanni, Hauer, Julia, Attarbaschi, Andishe, Izraeli, Shai, Zaliova, Marketa, Cario, Gunnar, Zimmermann, Martin, Avigad, Smadar, Sokalska-Duhme, Magdalena, Metzler, Markus, Schrappe, Martin, Koehler, Rolf, te Kronnie, Geertruy, and Stanulla, Martin

Abstract

Acute lymphoblastic leukemia (ALL) accounts for ∼25% of pediatric malignancies. Of interest, the incidence of ALL is observed ∼20% higher in males relative to females. The mechanism behind the phenomenon of sex-specific differences is presently not understood. Employing genome-wide genetic aberration screening in 19 ALL samples, one of the most recurrent lesions identified was monoallelic deletion of the 5′ region of SLX4IP. We characterized this deletion by conventional molecular genetic techniques and analyzed its interrelationships with biological and clinical characteristics using specimens and data from 993 pediatric patients enrolled into trial AIEOP-BFM ALL 2000. Deletion of SLX4IP was detected in ∼30% of patients. Breakpoints within SLX4IP were defined to recurrent positions and revealed junctions with typical characteristics of illegitimate V(D)J-mediated recombination. In initial and validation analyses, SLX4IP deletions were significantly associated with male gender and ETV6/RUNX1-rearranged ALL (both overall P < 0.0001). For mechanistic validation, a second recurrent deletion affecting TAL1 and caused by the same molecular mechanism was analyzed in 1149 T-cell ALL patients. Validating a differential role by sex of illegitimate V(D)J-mediated recombination at the TAL1 locus, 128 out of 1149 T-cell ALL samples bore a deletion and males were significantly more often affected (P = 0.002). The repeatedly detected association of SLX4IP deletion with male sex and the extension of the sex bias to deletion of the TAL1 locus suggest that differential illegitimate V(D)J-mediated recombination events at specific loci may contribute to the consistent observation of higher incidence rates of childhood ALL in boys compared with girls

Published
2017

49. Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

Author

Tsoi, Lam C., primary, Stuart, Philip E., additional, Tian, Chao, additional, Gudjonsson, Johann E., additional, Das, Sayantan, additional, Zawistowski, Matthew, additional, Ellinghaus, Eva, additional, Barker, Jonathan N., additional, Chandran, Vinod, additional, Dand, Nick, additional, Duffin, Kristina Callis, additional, Enerbäck, Charlotta, additional, Esko, Tõnu, additional, Franke, Andre, additional, Gladman, Dafna D., additional, Hoffmann, Per, additional, Kingo, Külli, additional, Kõks, Sulev, additional, Krueger, Gerald G., additional, Lim, Henry W., additional, Metspalu, Andres, additional, Mrowietz, Ulrich, additional, Mucha, Sören, additional, Rahman, Proton, additional, Reis, Andre, additional, Tejasvi, Trilokraj, additional, Trembath, Richard, additional, Voorhees, John J., additional, Weidinger, Stephan, additional, Weichenthal, Michael, additional, Wen, Xiaoquan, additional, Eriksson, Nicholas, additional, Kang, Hyun M., additional, Hinds, David A., additional, Nair, Rajan P., additional, Abecasis, Gonçalo R., additional, and Elder, James T, additional

Published
2017
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50. Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci

Author

Ellinghaus, Eva, primary, Ellinghaus, David, additional, Krusche, Petra, additional, Greiner, Aljoscha, additional, Schreiber, Claudia, additional, Nikolaus, Susanna, additional, Gieger, Christian, additional, Strauch, Konstantin, additional, Lieb, Wolfgang, additional, Rosenstiel, Philip, additional, Frings, Norbert, additional, Fiebig, Andreas, additional, Schreiber, Stefan, additional, and Franke, Andre, additional

Published
2017
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