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2. Identification of novel genetic loci for risk of multiple myeloma by functional annotation

Author

Macauda, Angelica, Briem, Klara, Clay-Gilmour, Alyssa, Cozen, Wendy, Försti, Asta, Giaccherini, Matteo, Corradi, Chiara, Sainz, Juan, Niazi, Yasmeen, ter Horst, Rob, Li, Yang, Netea, Mihai G., Vogel, Ulla, Hemminki, Kari, Slager, Susan L., Varkonyi, Judit, Andersen, Vibeke, Iskierka-Jazdzewska, Elzbieta, Mártinez-Lopez, Joaquin, Zaucha, Jan, Camp, Nicola J., Rajkumar, S. Vincent, Druzd-Sitek, Agnieszka, Bhatti, Parveen, Chanock, Stephen J., Kumar, Shaji K., Subocz, Edyta, Mazur, Grzegorz, Landi, Stefano, Machiela, Mitchell J., Jerez, Andrés, Norman, Aaron D., Hildebrandt, Michelle A. T., Kadar, Katalin, Berndt, Sonja I., Ziv, Elad, Buda, Gabriele, Nagler, Arnon, Dumontet, Charles, Raźny, Malgorzata, Watek, Marzena, Butrym, Aleksandra, Grzasko, Norbert, Dudzinski, Marek, Rybicka-Ramos, Malwina, Matera, Eva-Laure, García-Sanz, Ramón, Goldschmidt, Hartmut, Jamroziak, Krzysztof, Jurczyszyn, Artur, Clavero, Esther, Giles, Graham G., Pelosini, Matteo, Zawirska, Daria, Kruszewski, Marcin, Marques, Herlander, Haastrup, Eva, Sánchez-Maldonado, José Manuel, Bertsch, Uta, Rymko, Marcin, Raab, Marc-Steffen, Brown, Elizabeth E., Hofmann, Jonathan N., Vachon, Celine, Campa, Daniele, and Canzian, Federico

Published
2023
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5. Correction: Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes

Author

Berndt, Sonja I., Vijai, Joseph, Benavente, Yolanda, Camp, Nicola J., Nieters, Alexandra, Wang, Zhaoming, Smedby, Karin E., Kleinstern, Geffen, Hjalgrim, Henrik, Besson, Caroline, Skibola, Christine F., Morton, Lindsay M., Brooks-Wilson, Angela R., Teras, Lauren R., Breeze, Charles, Arias, Joshua, Adami, Hans-Olov, Albanes, Demetrius, Anderson, Kenneth C., Ansell, Stephen M., Bassig, Bryan, Becker, Nikolaus, Bhatti, Parveen, Birmann, Brenda M., Boffetta, Paolo, Bracci, Paige M., Brennan, Paul, Brown, Elizabeth E., Burdett, Laurie, Cannon-Albright, Lisa A., Chang, Ellen T., Chiu, Brian C. H., Chung, Charles C., Clavel, Jacqueline, Cocco, Pierluigi, Colditz, Graham, Conde, Lucia, Conti, David V., Cox, David G., Curtin, Karen, Casabonne, Delphine, De Vivo, Immaculata, Diepstra, Arjan, Diver, W. Ryan, Dogan, Ahmet, Edlund, Christopher K., Foretova, Lenka, Fraumeni, Jr, Joseph F., Gabbas, Attilio, Ghesquières, Hervé, Giles, Graham G., Glaser, Sally, Glenn, Martha, Glimelius, Bengt, Gu, Jian, Habermann, Thomas M., Haiman, Christopher A., Haioun, Corinne, Hofmann, Jonathan N., Holford, Theodore R., Holly, Elizabeth A., Hutchinson, Amy, Izhar, Aalin, Jackson, Rebecca D., Jarrett, Ruth F., Kaaks, Rudolph, Kane, Eleanor, Kolonel, Laurence N., Kong, Yinfei, Kraft, Peter, Kricker, Anne, Lake, Annette, Lan, Qing, Lawrence, Charles, Li, Dalin, Liebow, Mark, Link, Brian K., Magnani, Corrado, Maynadie, Marc, McKay, James, Melbye, Mads, Miligi, Lucia, Milne, Roger L., Molina, Thierry J., Monnereau, Alain, Montalvan, Rebecca, North, Kari E., Novak, Anne J., Onel, Kenan, Purdue, Mark P., Rand, Kristin A., Riboli, Elio, Riby, Jacques, Roman, Eve, Salles, Gilles, Sborov, Douglas W., Severson, Richard K., Shanafelt, Tait D., Smith, Martyn T., Smith, Alexandra, Song, Kevin W., Song, Lei, Southey, Melissa C., Spinelli, John J., Staines, Anthony, Stephens, Deborah, Sutherland, Heather J., Tkachuk, Kaitlyn, Thompson, Carrie A., Tilly, Hervé, Tinker, Lesley F., Travis, Ruth C., Turner, Jenny, Vachon, Celine M., Vajdic, Claire M., Van Den Berg, Anke, Van Den Berg, David J., Vermeulen, Roel C. H., Vineis, Paolo, Wang, Sophia S., Weiderpass, Elisabete, Weiner, George J., Weinstein, Stephanie, Doo, Nicole Wong, Ye, Yuanqing, Yeager, Meredith, Yu, Kai, Zeleniuch-Jacquotte, Anne, Zhang, Yawei, Zheng, Tongzhang, Ziv, Elad, Sampson, Joshua, Chatterjee, Nilanjan, Offit, Kenneth, Cozen, Wendy, Wu, Xifeng, Cerhan, James R., Chanock, Stephen J., Slager, Susan L., and Rothman, Nathaniel

Published
2023
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6. Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes

Author

Berndt, Sonja I., Vijai, Joseph, Benavente, Yolanda, Camp, Nicola J., Nieters, Alexandra, Wang, Zhaoming, Smedby, Karin E., Kleinstern, Geffen, Hjalgrim, Henrik, Besson, Caroline, Skibola, Christine F., Morton, Lindsay M., Brooks-Wilson, Angela R., Teras, Lauren R., Breeze, Charles, Arias, Joshua, Adami, Hans-Olov, Albanes, Demetrius, Anderson, Kenneth C., Ansell, Stephen M., Bassig, Bryan, Becker, Nikolaus, Bhatti, Parveen, Birmann, Brenda M., Boffetta, Paolo, Bracci, Paige M., Brennan, Paul, Brown, Elizabeth E., Burdett, Laurie, Cannon-Albright, Lisa A., Chang, Ellen T., Chiu, Brian C. H., Chung, Charles C., Clavel, Jacqueline, Cocco, Pierluigi, Colditz, Graham, Conde, Lucia, Conti, David V., Cox, David G., Curtin, Karen, Casabonne, Delphine, De Vivo, Immaculata, Diepstra, Arjan, Diver, W. Ryan, Dogan, Ahmet, Edlund, Christopher K., Foretova, Lenka, Fraumeni, Jr, Joseph F., Gabbas, Attilio, Ghesquières, Hervé, Giles, Graham G., Glaser, Sally, Glenn, Martha, Glimelius, Bengt, Gu, Jian, Habermann, Thomas M., Haiman, Christopher A., Haioun, Corinne, Hofmann, Jonathan N., Holford, Theodore R., Holly, Elizabeth A., Hutchinson, Amy, Izhar, Aalin, Jackson, Rebecca D., Jarrett, Ruth F., Kaaks, Rudolph, Kane, Eleanor, Kolonel, Laurence N., Kong, Yinfei, Kraft, Peter, Kricker, Anne, Lake, Annette, Lan, Qing, Lawrence, Charles, Li, Dalin, Liebow, Mark, Link, Brian K., Magnani, Corrado, Maynadie, Marc, McKay, James, Melbye, Mads, Miligi, Lucia, Milne, Roger L., Molina, Thierry J., Monnereau, Alain, Montalvan, Rebecca, North, Kari E., Novak, Anne J., Onel, Kenan, Purdue, Mark P., Rand, Kristin A., Riboli, Elio, Riby, Jacques, Roman, Eve, Salles, Gilles, Sborov, Douglas W., Severson, Richard K., Shanafelt, Tait D., Smith, Martyn T., Smith, Alexandra, Song, Kevin W., Song, Lei, Southey, Melissa C., Spinelli, John J., Staines, Anthony, Stephens, Deborah, Sutherland, Heather J., Tkachuk, Kaitlyn, Thompson, Carrie A., Tilly, Hervé, Tinker, Lesley F., Travis, Ruth C., Turner, Jenny, Vachon, Celine M., Vajdic, Claire M., Van Den Berg, Anke, Van Den Berg, David J., Vermeulen, Roel C. H., Vineis, Paolo, Wang, Sophia S., Weiderpass, Elisabete, Weiner, George J., Weinstein, Stephanie, Doo, Nicole Wong, Ye, Yuanqing, Yeager, Meredith, Yu, Kai, Zeleniuch-Jacquotte, Anne, Zhang, Yawei, Zheng, Tongzhang, Ziv, Elad, Sampson, Joshua, Chatterjee, Nilanjan, Offit, Kenneth, Cozen, Wendy, Wu, Xifeng, Cerhan, James R., Chanock, Stephen J., Slager, Susan L., and Rothman, Nathaniel

Published
2022
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9. Transancestral mapping and genetic load in systemic lupus erythematosus.

Author

Langefeld, Carl D, Ainsworth, Hannah C, Cunninghame Graham, Deborah S, Kelly, Jennifer A, Comeau, Mary E, Marion, Miranda C, Howard, Timothy D, Ramos, Paula S, Croker, Jennifer A, Morris, David L, Sandling, Johanna K, Almlöf, Jonas Carlsson, Acevedo-Vásquez, Eduardo M, Alarcón, Graciela S, Babini, Alejandra M, Baca, Vicente, Bengtsson, Anders A, Berbotto, Guillermo A, Bijl, Marc, Brown, Elizabeth E, Brunner, Hermine I, Cardiel, Mario H, Catoggio, Luis, Cervera, Ricard, Cucho-Venegas, Jorge M, Dahlqvist, Solbritt Rantapää, D'Alfonso, Sandra, Da Silva, Berta Martins, de la Rúa Figueroa, Iñigo, Doria, Andrea, Edberg, Jeffrey C, Endreffy, Emőke, Esquivel-Valerio, Jorge A, Fortin, Paul R, Freedman, Barry I, Frostegård, Johan, García, Mercedes A, de la Torre, Ignacio García, Gilkeson, Gary S, Gladman, Dafna D, Gunnarsson, Iva, Guthridge, Joel M, Huggins, Jennifer L, James, Judith A, Kallenberg, Cees GM, Kamen, Diane L, Karp, David R, Kaufman, Kenneth M, Kottyan, Leah C, Kovács, László, Laustrup, Helle, Lauwerys, Bernard R, Li, Quan-Zhen, Maradiaga-Ceceña, Marco A, Martín, Javier, McCune, Joseph M, McWilliams, David R, Merrill, Joan T, Miranda, Pedro, Moctezuma, José F, Nath, Swapan K, Niewold, Timothy B, Orozco, Lorena, Ortego-Centeno, Norberto, Petri, Michelle, Pineau, Christian A, Pons-Estel, Bernardo A, Pope, Janet, Raj, Prithvi, Ramsey-Goldman, Rosalind, Reveille, John D, Russell, Laurie P, Sabio, José M, Aguilar-Salinas, Carlos A, Scherbarth, Hugo R, Scorza, Raffaella, Seldin, Michael F, Sjöwall, Christopher, Svenungsson, Elisabet, Thompson, Susan D, Toloza, Sergio MA, Truedsson, Lennart, Tusié-Luna, Teresa, Vasconcelos, Carlos, Vilá, Luis M, Wallace, Daniel J, Weisman, Michael H, Wither, Joan E, Bhangale, Tushar, Oksenberg, Jorge R, Rioux, John D, Gregersen, Peter K, Syvänen, Ann-Christine, Rönnblom, Lars, Criswell, Lindsey A, Jacob, Chaim O, Sivils, Kathy L, Tsao, Betty P, Schanberg, Laura E, and Behrens, Timothy W

Subjects
Humans, Lupus Erythematosus, Systemic, HLA Antigens, Logistic Models, Case-Control Studies, Mutagenesis, Insertional, Age of Onset, Sequence Deletion, Genetic Load, Multifactorial Inheritance, Polymorphism, Single Nucleotide, African Continental Ancestry Group, American Native Continental Ancestry Group, European Continental Ancestry Group, Hispanic Americans, Lupus Erythematosus, Systemic, Mutagenesis, Insertional, Polymorphism, Single Nucleotide
Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P

Published
2017

10. A Meta-analysis of Multiple Myeloma Risk Regions in African and European Ancestry Populations Identifies Putatively Functional Loci

Author

Rand, Kristin A, Song, Chi, Dean, Eric, Serie, Daniel J, Curtin, Karen, Sheng, Xin, Hu, Donglei, Huff, Carol Ann, Bernal-Mizrachi, Leon, Tomasson, Michael H, Ailawadhi, Sikander, Singhal, Seema, Pawlish, Karen, Peters, Edward S, Bock, Cathryn H, Stram, Alex, Van Den Berg, David J, Edlund, Christopher K, Conti, David V, Zimmerman, Todd, Hwang, Amie E, Huntsman, Scott, Graff, John, Nooka, Ajay, Kong, Yinfei, Pregja, Silvana L, Berndt, Sonja I, Blot, William J, Carpten, John, Casey, Graham, Chu, Lisa, Diver, W Ryan, Stevens, Victoria L, Lieber, Michael R, Goodman, Phyllis J, Hennis, Anselm JM, Hsing, Ann W, Mehta, Jayesh, Kittles, Rick A, Kolb, Suzanne, Klein, Eric A, Leske, Cristina, Murphy, Adam B, Nemesure, Barbara, Neslund-Dudas, Christine, Strom, Sara S, Vij, Ravi, Rybicki, Benjamin A, Stanford, Janet L, Signorello, Lisa B, Witte, John S, Ambrosone, Christine B, Bhatti, Parveen, John, Esther M, Bernstein, Leslie, Zheng, Wei, Olshan, Andrew F, Hu, Jennifer J, Ziegler, Regina G, Nyante, Sarah J, Bandera, Elisa V, Birmann, Brenda M, Ingles, Sue A, Press, Michael F, Atanackovic, Djordje, Glenn, Martha J, Cannon-Albright, Lisa A, Jones, Brandt, Tricot, Guido, Martin, Thomas G, Kumar, Shaji K, Wolf, Jeffrey L, Deming Halverson, Sandra L, Rothman, Nathaniel, Brooks-Wilson, Angela R, Rajkumar, S Vincent, Kolonel, Laurence N, Chanock, Stephen J, Slager, Susan L, Severson, Richard K, Janakiraman, Nalini, Terebelo, Howard R, Brown, Elizabeth E, De Roos, Anneclaire J, Mohrbacher, Ann F, Colditz, Graham A, Giles, Graham G, Spinelli, John J, Chiu, Brian C, Munshi, Nikhil C, Anderson, Kenneth C, Levy, Joan, Zonder, Jeffrey A, Orlowski, Robert Z, Lonial, Sagar, Camp, Nicola J, Vachon, Celine M, Ziv, Elad, Stram, Daniel O, and Hazelett, Dennis J

Subjects
Biomedical and Clinical Sciences, Cancer, Clinical Research, Genetics, Rare Diseases, Hematology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Black People, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Middle Aged, Multiple Myeloma, Polycomb Repressive Complex 1, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases, Repressor Proteins, Transmembrane Activator and CAML Interactor Protein, White People, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundGenome-wide association studies (GWAS) in European populations have identified genetic risk variants associated with multiple myeloma.MethodsWe performed association testing of common variation in eight regions in 1,318 patients with multiple myeloma and 1,480 controls of European ancestry and 1,305 patients with multiple myeloma and 7,078 controls of African ancestry and conducted a meta-analysis to localize the signals, with epigenetic annotation used to predict functionality.ResultsWe found that variants in 7p15.3, 17p11.2, 22q13.1 were statistically significantly (P < 0.05) associated with multiple myeloma risk in persons of African ancestry and persons of European ancestry, and the variant in 3p22.1 was associated in European ancestry only. In a combined African ancestry-European ancestry meta-analysis, variation in five regions (2p23.3, 3p22.1, 7p15.3, 17p11.2, 22q13.1) was statistically significantly associated with multiple myeloma risk. In 3p22.1, the correlated variants clustered within the gene body of ULK4 Correlated variants in 7p15.3 clustered around an enhancer at the 3' end of the CDCA7L transcription termination site. A missense variant at 17p11.2 (rs34562254, Pro251Leu, OR, 1.32; P = 2.93 × 10-7) in TNFRSF13B encodes a lymphocyte-specific protein in the TNF receptor family that interacts with the NF-κB pathway. SNPs correlated with the index signal in 22q13.1 cluster around the promoter and enhancer regions of CBX7 CONCLUSIONS: We found that reported multiple myeloma susceptibility regions contain risk variants important across populations, supporting the use of multiple racial/ethnic groups with different underlying genetic architecture to enhance the localization and identification of putatively functional alleles.ImpactA subset of reported risk loci for multiple myeloma has consistent effects across populations and is likely to be functional. Cancer Epidemiol Biomarkers Prev; 25(12); 1609-18. ©2016 AACR.

Published
2016

11. Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus

Author

Zhao, Jian, Wu, Hui, Langefeld, Carl D, Kaufman, Kenneth M, Kelly, Jennifer A, Bae, Sang-Cheol, networks, Marta E Alarcón-Riquelme for the BIOLUPUS and GENLES, Alarcón, Graciela S, Anaya, Juan-Manuel, Criswell, Lindsey A, Freedman, Barry I, Kamen, Diane L, Gilkeson, Gary S, Jacob, Chaim O, James, Judith A, Merrill, Joan T, Gaffney, Patrick M, Sivils, Kathy Moser, Niewold, Timothy B, Petri, Michelle A, Song, Seung Taek, Jeong, Hye-jin, Ramsey-Goldman, Rosalind, Reveille, John D, Scofield, R Hal, Stevens, Anne M, Boackle, Susan A, Vilá, Luis M, Chang, Deh-Ming, Song, Yeong Wook, Vyse, Timothy J, Harley, John B, Brown, Elizabeth E, Edberg, Jeffrey C, Kimberly, Robert P, Hahn, Bevra H, Grossman, Jennifer M, Tsao, Betty P, and La Cava, Antonio

Subjects
Biomedical and Clinical Sciences, Immunology, Clinical Research, Autoimmune Disease, Genetic Testing, Genetics, Lupus, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Case-Control Studies, Genetic Predisposition to Disease, Genotype, Humans, Leptin, Lupus Erythematosus, Systemic, Polymorphism, Single Nucleotide, Systemic lupus erythematosus, Leptin pathway, Gene polymorphisms, Marta E. Alarcón-Riquelme for the BIOLUPUS and GENLES networks
Abstract

Leptin is abnormally elevated in the plasma of patients with systemic lupus erythematosus (SLE), where it is thought to promote and/or sustain pro-inflammatory responses. Whether this association could reflect an increased genetic susceptibility to develop SLE is not known, and studies of genetic associations with leptin-related polymorphisms in SLE patients have been so far inconclusive. Here we genotyped DNA samples from 15,706 SLE patients and healthy matched controls from four different ancestral groups, to correlate polymorphisms of genes of the leptin pathway to risk for SLE. It was found that although several SNPs showed weak associations, those associations did not remain significant after correction for multiple testing. These data do not support associations between defined leptin-related polymorphisms and increased susceptibility to develop SLE.

Published
2015

12. Long-term survival of 1338 MM patients treated with tandem autologous vs. autologous-allogeneic transplantation

Author

Costa, Luciano J., Iacobelli, Simona, Pasquini, Marcelo C., Modi, Riddhi, Giaccone, Luisa, Blade, Joan, Schonland, Stefan, Evangelista, Andrea, Perez-Simon, Jose A., Hari, Parameswaran, Brown, Elizabeth E., Giralt, Sergio A., Patriarca, Francesca, Stadtmauer, Edward A., Rosinol, Laura, Krishnan, Amrita Y., Gahrton, Gösta, and Bruno, Benedetto

Published
2020
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13. Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression

Author

Lu, Xiaoming, Zoller, Erin E, Weirauch, Matthew T, Wu, Zhiguo, Namjou, Bahram, Williams, Adrienne H, Ziegler, Julie T, Comeau, Mary E, Marion, Miranda C, Glenn, Stuart B, Adler, Adam, Shen, Nan, Nath, Swapan K, Stevens, Anne M, Freedman, Barry I, Tsao, Betty P, Jacob, Chaim O, Kamen, Diane L, Brown, Elizabeth E, Gilkeson, Gary S, Alarcón, Graciela S, Reveille, John D, Anaya, Juan-Manuel, James, Judith A, Sivils, Kathy L, Criswell, Lindsey A, Vilá, Luis M, Alarcón-Riquelme, Marta E, Petri, Michelle, Scofield, R Hal, Kimberly, Robert P, Ramsey-Goldman, Rosalind, Bin Joo, Young, Choi, Jeongim, Bae, Sang-Cheol, Boackle, Susan A, Graham, Deborah Cunninghame, Vyse, Timothy J, Guthridge, Joel M, Gaffney, Patrick M, Langefeld, Carl D, Kelly, Jennifer A, Greis, Kenneth D, Kaufman, Kenneth M, Harley, John B, and Kottyan, Leah C

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Biotechnology, Lupus, Autoimmune Disease, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Alleles, Animals, Asian People, Bayes Theorem, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Lupus Erythematosus, Systemic, Mice, Protein Binding, Proto-Oncogene Protein c-ets-1, STAT1 Transcription Factor, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Genetic variants at chromosomal region 11q23.3, near the gene ETS1, have been associated with systemic lupus erythematosus (SLE), or lupus, in independent cohorts of Asian ancestry. Several recent studies have implicated ETS1 as a critical driver of immune cell function and differentiation, and mice deficient in ETS1 develop an SLE-like autoimmunity. We performed a fine-mapping study of 14,551 subjects from multi-ancestral cohorts by starting with genotyped variants and imputing to all common variants spanning ETS1. By constructing genetic models via frequentist and Bayesian association methods, we identified 16 variants that are statistically likely to be causal. We functionally assessed each of these variants on the basis of their likelihood of affecting transcription factor binding, miRNA binding, or chromatin state. Of the four variants that we experimentally examined, only rs6590330 differentially binds lysate from B cells. Using mass spectrometry, we found more binding of the transcription factor signal transducer and activator of transcription 1 (STAT1) to DNA near the risk allele of rs6590330 than near the non-risk allele. Immunoblot analysis and chromatin immunoprecipitation of pSTAT1 in B cells heterozygous for rs6590330 confirmed that the risk allele increased binding to the active form of STAT1. Analysis with expression quantitative trait loci indicated that the risk allele of rs6590330 is associated with decreased ETS1 expression in Han Chinese, but not other ancestral cohorts. We propose a model in which the risk allele of rs6590330 is associated with decreased ETS1 expression and increases SLE risk by enhancing the binding of pSTAT1.

Published
2015

14. Associations of Non-Hodgkin Lymphoma (NHL) Risk With Autoimmune Conditions According to Putative NHL Loci

Author

Wang, Sophia S, Vajdic, Claire M, Linet, Martha S, Slager, Susan L, Voutsinas, Jenna, Nieters, Alexandra, de Sanjose, Silvia, Cozen, Wendy, Alarcón, Graciela S, Martinez-Maza, Otoniel, Brown, Elizabeth E, Bracci, Paige M, Lightfoot, Tracy, Turner, Jennifer, Hjalgrim, Henrik, Spinelli, John J, Zheng, Tongzhang, Morton, Lindsay M, Birmann, Brenda M, Flowers, Christopher R, Paltiel, Ora, Becker, Nikolaus, Holly, Elizabeth A, Kane, Eleanor, Weisenburger, Dennis, Maynadie, Marc, Cocco, Pierluigi, Foretova, Lenka, Staines, Anthony, Davis, Scott, Severson, Richard, Cerhan, James R, Breen, Elizabeth C, Lan, Qing, Brooks-Wilson, Angela, De Roos, Anneclaire J, Smith, Martyn T, Roman, Eve, Boffetta, Paolo, Kricker, Anne, Zhang, Yawei, Skibola, Christine, Chanock, Stephen J, Rothman, Nathaniel, Benavente, Yolanda, Hartge, Patricia, and Smedby, Karin E

Subjects
Cancer, HIV/AIDS, Autoimmune Disease, Genetics, Lymphoma, Rare Diseases, Hematology, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Autoimmune Diseases, Case-Control Studies, HLA Antigens, Humans, Interleukin-10, Lymphoma, Non-Hodgkin, Polymorphism, Single Nucleotide, Tumor Necrosis Factor-alpha, autoimmune conditions, environment, genetics, interaction, human leukocyte antigen, lymphoma, non-Hodgkin, tumor necrosis factor, lymphoma, non-Hodgkin, Mathematical Sciences, Medical and Health Sciences, Epidemiology
Abstract

Autoimmune conditions and immune system-related genetic variations are associated with risk of non-Hodgkin lymphoma (NHL). In a pooled analysis of 8,692 NHL cases and 9,260 controls from 14 studies (1988-2007) within the International Lymphoma Epidemiology Consortium, we evaluated the interaction between immune system genetic variants and autoimmune conditions in NHL risk. We evaluated the immunity-related single nucleotide polymorphisms rs1800629 (tumor necrosis factor gene (TNF) G308A), rs1800890 (interleukin-10 gene (IL10) T3575A), rs6457327 (human leukocyte antigen gene (HLA) class I), rs10484561 (HLA class II), and rs2647012 (HLA class II)) and categorized autoimmune conditions as primarily mediated by B-cell or T-cell responses. We constructed unconditional logistic regression models to measure associations between autoimmune conditions and NHL with stratification by genotype. Autoimmune conditions mediated by B-cell responses were associated with increased NHL risk, specifically diffuse large B-cell lymphoma (odds ratio (OR) = 3.11, 95% confidence interval (CI): 2.25, 4.30) and marginal zone lymphoma (OR = 5.80, 95% CI: 3.82, 8.80); those mediated by T-cell responses were associated with peripheral T-cell lymphoma (OR = 2.14, 95% CI: 1.35, 3.38). In the presence of the rs1800629 AG/AA genotype, B-cell-mediated autoimmune conditions increased NHL risk (OR = 3.27, 95% CI: 2.07, 5.16; P-interaction = 0.03) in comparison with the GG genotype (OR = 1.82, 95% CI: 1.31, 2.53). This interaction was consistent across major B-cell NHL subtypes, including marginal zone lymphoma (P-interaction = 0.02) and follicular lymphoma (P-interaction = 0.04).

Published
2015

15. Two Functional Lupus-Associated BLK Promoter Variants Control Cell-Type- and Developmental-Stage-Specific Transcription

Author

Guthridge, Joel M, Lu, Rufei, Sun, Harry, Sun, Celi, Wiley, Graham B, Dominguez, Nicolas, Macwana, Susan R, Lessard, Christopher J, Kim-Howard, Xana, Cobb, Beth L, Kaufman, Kenneth M, Kelly, Jennifer A, Langefeld, Carl D, Adler, Adam J, Harley, Isaac TW, Merrill, Joan T, Gilkeson, Gary S, Kamen, Diane L, Niewold, Timothy B, Brown, Elizabeth E, Edberg, Jeffery C, Petri, Michelle A, Ramsey-Goldman, Rosalind, Reveille, John D, Vilá, Luis M, Kimberly, Robert P, Freedman, Barry I, Stevens, Anne M, Boackle, Susan A, Criswell, Lindsey A, Vyse, Tim J, Behrens, Timothy W, Jacob, Chaim O, Alarcón-Riquelme, Marta E, Sivils, Kathy L, Choi, Jiyoung, Bin Joo, Young, Bang, So-Young, Lee, Hye-Soon, Bae, Sang-Cheol, Shen, Nan, Qian, Xiaoxia, Tsao, Betty P, Scofield, R Hal, Harley, John B, Webb, Carol F, Wakeland, Edward K, James, Judith A, Nath, Swapan K, Graham, Robert R, and Gaffney, Patrick M

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Lupus, Autoimmune Disease, Clinical Research, Stem Cell Research, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Alleles, Chromosomes, Human, Pair 8, Electrophoretic Mobility Shift Assay, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Lupus Erythematosus, Systemic, Male, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Transcription, Genetic, src-Family Kinases, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Efforts to identify lupus-associated causal variants in the FAM167A/BLK locus on 8p21 are hampered by highly associated noncausal variants. In this report, we used a trans-population mapping and sequencing strategy to identify a common variant (rs922483) in the proximal BLK promoter and a tri-allelic variant (rs1382568) in the upstream alternative BLK promoter as putative causal variants for association with systemic lupus erythematosus. The risk allele (T) at rs922483 reduced proximal promoter activity and modulated alternative promoter usage. Allelic differences at rs1382568 resulted in altered promoter activity in B progenitor cell lines. Thus, our results demonstrated that both lupus-associated functional variants contribute to the autoimmune disease association by modulating transcription of BLK in B cells and thus potentially altering immune responses.

Published
2014

16. End‐Stage Renal Disease in African Americans With Lupus Nephritis Is Associated With APOL1

Author

Freedman, Barry I, Langefeld, Carl D, Andringa, Kelly K, Croker, Jennifer A, Williams, Adrienne H, Garner, Neva E, Birmingham, Daniel J, Hebert, Lee A, Hicks, Pamela J, Segal, Mark S, Edberg, Jeffrey C, Brown, Elizabeth E, Alarcón, Graciela S, Costenbader, Karen H, Comeau, Mary E, Criswell, Lindsey A, Harley, John B, James, Judith A, Kamen, Diane L, Lim, S Sam, Merrill, Joan T, Sivils, Kathy L, Niewold, Timothy B, Patel, Neha M, Petri, Michelle, Ramsey‐Goldman, Rosalind, Reveille, John D, Salmon, Jane E, Tsao, Betty P, Gibson, Keisha L, Byers, Joyce R, Vinnikova, Anna K, Lea, Janice P, Julian, Bruce A, Kimberly, Robert P, and Consortium, on behalf of the Lupus Nephritis–End‐Stage Renal Disease

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Kidney Disease, Genetic Testing, Clinical Research, Autoimmune Disease, Lupus, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Adult, Black or African American, Alleles, Apolipoprotein L1, Apolipoproteins, Disease Progression, Female, Genetic Predisposition to Disease, Genotype, Humans, Kidney Failure, Chronic, Lipoproteins, HDL, Logistic Models, Lupus Nephritis, Male, Middle Aged, Risk Factors, White People, Lupus Nephritis–End‐Stage Renal Disease Consortium, Immunology, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences
Abstract

ObjectiveLupus nephritis (LN) is a severe manifestation of systemic lupus erythematosus (SLE) that exhibits familial aggregation and may progress to end-stage renal disease (ESRD). LN is more prevalent among African Americans than among European Americans. This study was undertaken to investigate the hypothesis that the apolipoprotein L1 gene (APOL1) nephropathy risk alleles G1/G2, common in African Americans and rare in European Americans, contribute to the ethnic disparity in risk.MethodsAPOL1 G1 and G2 nephropathy alleles were genotyped in 855 African American SLE patients with LN-ESRD (cases) and 534 African American SLE patients without nephropathy (controls) and tested for association under a recessive genetic model, by logistic regression.ResultsNinety percent of the SLE patients were female. The mean ± SD age at SLE diagnosis was significantly lower in LN-ESRD cases than in SLE non-nephropathy controls (27.3 ± 10.9 years versus 39.5 ± 12.2 years). The mean ± SD time from SLE diagnosis to development of LN-ESRD in cases was 7.3 ± 7.2 years. The G1/G2 risk alleles were strongly associated with SLE-ESRD, with 25% of cases and 12% of controls having 2 nephropathy alleles (odds ratio [OR] 2.57, recessive model P = 1.49 × 10(-9)), and after adjustment for age, sex, and ancestry admixture (OR 2.72, P = 6.23 × 10(-6)). The age-, sex-, and admixture-adjusted population attributable risk for ESRD among patients with G1/G2 polymorphisms was 0.26, compared to 0.003 among European American patients. The mean time from SLE diagnosis to ESRD development was ∼2 years earlier among individuals with APOL1 risk genotypes (P = 0.01).ConclusionAPOL1 G1/G2 alleles strongly impact the risk of LN-ESRD in African Americans, as well as the time to progression to ESRD. The high frequency of these alleles in African Americans with near absence in European Americans explains an important proportion of the increased risk of LN-ESRD in African Americans.

Published
2014

17. Variable Association of Reactive Intermediate Genes with Systemic Lupus Erythematosus in Populations with Different African Ancestry

Author

Ramos, Paula S, Oates, James C, Kamen, Diane L, Williams, Adrienne H, Gaffney, Patrick M, Kelly, Jennifer A, Kaufman, Kenneth M, Kimberly, Robert P, Niewold, Timothy B, Jacob, Chaim O, Tsao, Betty P, Alarcón, Graciela S, Brown, Elizabeth E, Edberg, Jeffrey C, Petri, Michelle A, Ramsey-Goldman, Rosalind, Reveille, John D, Vilá, Luis M, James, Judith A, Guthridge, Joel M, Merrill, Joan T, Boackle, Susan A, Freedman, Barry I, Scofield, R Hal, Stevens, Anne M, Vyse, Timothy J, Criswell, Lindsey A, Moser, Kathy L, Alarcón-Riquelme, Marta E, Langefeld, Carl D, Harley, John B, and Gilkeson, Gary S

Subjects
Autoimmune Disease, Lupus, Clinical Research, Genetics, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Adult, Alleles, Black People, Electron Transport Complex I, Genetic Association Studies, Genetic Loci, Genetic Predisposition to Disease, Genotype, Glutathione Reductase, Haplotypes, Humans, Lupus Erythematosus, Systemic, NADH Dehydrogenase, Nitric Oxide Synthase Type I, Polymorphism, Single Nucleotide, SYSTEMIC LUPUS ERYTHEMATOSUS, AFRICAN AMERICANS, OXYGEN COMPOUNDS, GENETIC ASSOCIATION STUDIES, SINGLE-NUCLEOTIDE POLYMORPHISM, Clinical Sciences, Immunology, Public Health and Health Services, Arthritis & Rheumatology
Abstract

ObjectiveLittle is known about the genetic etiology of systemic lupus erythematosus (SLE) in individuals of African ancestry, despite its higher prevalence and greater disease severity. Overproduction of nitric oxide (NO) and reactive oxygen species are implicated in the pathogenesis and severity of SLE, making NO synthases and other reactive intermediate-related genes biological candidates for disease susceptibility. We analyzed variation in reactive intermediate genes for association with SLE in 2 populations with African ancestry.MethodsA total of 244 single-nucleotide polymorphisms (SNP) from 53 regions were analyzed in non-Gullah African Americans (AA; 1432 cases and 1687 controls) and the genetically more homogeneous Gullah of the Sea Islands of South Carolina (133 cases and 112 controls). Single-marker, haplotype, and 2-locus interaction tests were computed for these populations.ResultsThe glutathione reductase gene GSR (rs2253409; p = 0.0014, OR 1.26, 95% CI 1.09-1.44) was the most significant single SNP association in AA. In the Gullah, the NADH dehydrogenase NDUFS4 (rs381575; p = 0.0065, OR 2.10, 95% CI 1.23-3.59) and NO synthase gene NOS1 (rs561712; p = 0.0072, OR 0.62, 95% CI 0.44-0.88) were most strongly associated with SLE. When both populations were analyzed together, GSR remained the most significant effect (rs2253409; p = 0.00072, OR 1.26, 95% CI 1.10-1.44). Haplotype and 2-locus interaction analyses also uncovered different loci in each population.ConclusionThese results suggest distinct patterns of association with SLE in African-derived populations; specific loci may be more strongly associated within select population groups.

Published
2013

18. Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups

Author

Kaufman, Kenneth M, Zhao, Jian, Kelly, Jennifer A, Hughes, Travis, Adler, Adam, Sanchez, Elena, Ojwang, Joshua O, Langefeld, Carl D, Ziegler, Julie T, Williams, Adrienne H, Comeau, Mary E, Marion, Miranda C, Glenn, Stuart B, Cantor, Rita M, Grossman, Jennifer M, Hahn, Bevra H, Song, Yeong Wook, Yu, Chack-Yung, James, Judith A, Guthridge, Joel M, Brown, Elizabeth E, Alarcón, Graciela S, Kimberly, Robert P, Edberg, Jeffrey C, Ramsey-Goldman, Rosalind, Petri, Michelle A, Reveille, John D, Vilá, Luis M, Anaya, Juan-Manuel, Boackle, Susan A, Stevens, Anne M, Freedman, Barry I, Criswell, Lindsey A, Group, Bernardo A Pons-Estel on behalf of the Argentine Collaborative, Lee, Joo-Hyun, Lee, Ji-Seon, Chang, Deh-Ming, Scofield, R Hal A, Gilkeson, Gary S, Merrill, Joan T, Niewold, Timothy B, Vyse, Timothy James, Bae, Sang-Cheol, network, Marta E Alarcón-Riquelme on behalf of the BIOLUPUS, Jacob, Chaim O, Sivils, Kathy Moser, Gaffney, Patrick M, Harley, John B, Sawalha, Amr H, and Tsao, Betty P

Subjects
Human Genome, Autoimmune Disease, Lupus, Genetics, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Base Sequence, Chromosome Mapping, Chromosomes, Human, X, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Interleukin-1 Receptor-Associated Kinases, Lupus Erythematosus, Systemic, Methyl-CpG-Binding Protein 2, Molecular Sequence Data, Polymorphism, Single Nucleotide, Racial Groups, Real-Time Polymerase Chain Reaction, Risk Factors, Argentine Collaborative Group, BIOLUPUS network, Clinical Sciences, Immunology, Public Health and Health Services, Arthritis & Rheumatology
Abstract

ObjectivesThe Xq28 region containing IRAK1 and MECP2 has been identified as a risk locus for systemic lupus erythematosus (SLE) in previous genetic association studies. However, due to the strong linkage disequilibrium between IRAK1 and MECP2, it remains unclear which gene is affected by the underlying causal variant(s) conferring risk of SLE.MethodsWe fine-mapped ≥136 SNPs in a ∼227 kb region on Xq28, containing IRAK1, MECP2 and seven adjacent genes (L1CAM, AVPR2, ARHGAP4, NAA10, RENBP, HCFC1 and TMEM187), for association with SLE in 15 783 case-control subjects derived from four different ancestral groups.ResultsMultiple SNPs showed strong association with SLE in European Americans, Asians and Hispanics at p

Published
2013

19. Brief Report: Single‐nucleotide polymorphisms in VKORC1 are risk factors for systemic lupus erythematosus in Asians

Author

Kaiser, Rachel, Taylor, Kimberly E, Deng, Yun, Zhao, Jian, Li, Yonghong, Nititham, Joanne, Chang, Monica, Catanese, Joseph, Begovich, Ann B, Brown, Elizabeth E, Edberg, Jeffrey C, McGwin, Gerald, Alarcón, Graciela S, Ramsey‐Goldman, Rosalind, Reveille, John D, Vila, Luis M, Petri, Michelle, Kimberly, Robert P, Feng, Xuebing, Sun, Lingyun, Shen, Nan, Li, Wei, Lu, Jian‐Xin, Wakeland, Edward K, Li, Quan‐Zhen, Yang, Wanling, Lau, Yu‐Lung, Liu, Fei‐Lan, Chang, Deh‐Ming, Yu, Chack‐Yung, Song, Yeong W, Group, Hwee Siew Howe and the Tan Tock Seng Hospital Systemic Lupus Erythematosus Study, Tsao, Betty P, and Criswell, Lindsey A

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Health Sciences, Genetics, Autoimmune Disease, Lupus, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Adult, Asian People, Case-Control Studies, Female, Genetic Predisposition to Disease, Genotype, Hemostasis, Humans, Lupus Erythematosus, Systemic, Male, Middle Aged, Mixed Function Oxygenases, Polymorphism, Single Nucleotide, Risk Factors, Venous Thrombosis, Vitamin K Epoxide Reductases, Hwee Siew Howe and the Tan Tock Seng Hospital Systemic Lupus Erythematosus Study Group, Clinical Sciences, Immunology, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences
Abstract

ObjectiveThe increased risk of thrombosis in systemic lupus erythematosus (SLE) may be partially explained by interrelated genetic pathways for thrombosis and SLE. The present study was undertaken to investigate whether 33 established and novel single-nucleotide polymorphisms (SNPs) in 20 genes involved in hemostasis pathways that have been associated with deep venous thrombosis (DVT) in the general population are risk factors for SLE among Asian subjects.MethodsPatients in the discovery cohort were enrolled in 1 of 2 North American SLE cohorts. Patients in the replication cohort were enrolled in 1 of 4 Asian or 2 North American cohorts. We first genotyped 263 Asian patients with SLE and 357 healthy Asian control subjects for 33 SNPs in the discovery phase, and then genotyped 5 SNPs in up to an additional 1,496 patients and 993 controls in the replication phase. Patients were compared to controls for bivariate association with minor alleles. Principal components analysis was used to control for intra-Asian ancestry in the replication cohort.ResultsTwo genetic variants in the gene VKORC1 were highly significant in both the discovery and replication cohorts: rs9934438 (in the discovery cohort, odds ratio [OR] 2.45, P=2×10(-9); in the replication cohort, OR 1.54, P=4×10(-6)) and rs9923231 (in the discovery cohort, OR 2.40, P=6×10(-9); in the replication cohort, OR 1.53, P=5×10(-6)). These associations were significant in the replication cohort after adjustment for intra-Asian ancestry: for rs9934438, OR 1.34, P=0.0029; for rs9923231, OR 1.34, P=0.0032.ConclusionGenetic variants in VKORC1, which are involved in vitamin K reduction and associated with DVT, correlate with SLE development in Asian subjects. These results suggest that there may be intersecting genetic pathways for the development of SLE and thrombosis.

Published
2013

20. Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus

Author

Adrianto, Indra, Wang, Shaofeng, Wiley, Graham B, Lessard, Christopher J, Kelly, Jennifer A, Adler, Adam J, Glenn, Stuart B, Williams, Adrienne H, Ziegler, Julie T, Comeau, Mary E, Marion, Miranda C, Wakeland, Benjamin E, Liang, Chaoying, Kaufman, Kenneth M, Guthridge, Joel M, Alarcón‐Riquelme, Marta E, Networks, BIOLUPUS and GENLES, Alarcón, Graciela S, Anaya, Juan‐Manuel, Bae, Sang‐Cheol, Kim, Jae‐Hoon, Bin Joo, Young, Boackle, Susan A, Brown, Elizabeth E, Petri, Michelle A, Ramsey‐Goldman, Rosalind, Reveille, John D, Vilá, Luis M, Criswell, Lindsey A, Edberg, Jeffrey C, Freedman, Barry I, Gilkeson, Gary S, Jacob, Chaim O, James, Judith A, Kamen, Diane L, Kimberly, Robert P, Martín, Javier, Merrill, Joan T, Niewold, Timothy B, Pons‐Estel, Bernardo A, Scofield, R Hal, Stevens, Anne M, Tsao, Betty P, Vyse, Timothy J, Langefeld, Carl D, Harley, John B, Wakeland, Edward K, Moser, Kathy L, Montgomery, Courtney G, and Gaffney, Patrick M

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Human Genome, Lupus, Autoimmune Disease, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Adaptor Proteins, Signal Transducing, Black or African American, Asian, B-Lymphocytes, Cell Line, Transformed, DNA-Binding Proteins, Female, Genetic Markers, Genetic Predisposition to Disease, Haplotypes, Hispanic or Latino, Humans, Intracellular Signaling Peptides and Proteins, Lupus Erythematosus, Systemic, Male, Neoplasm Proteins, Polymorphism, Single Nucleotide, Risk Factors, United States, White People, BIOLUPUS and GENLES Networks, Clinical Sciences, Immunology, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences
Abstract

ObjectiveSystemic lupus erythematosus (SLE) is an autoimmune disease characterized by autoantibody production and altered type I interferon expression. Genetic surveys and genome-wide association studies have identified >30 SLE susceptibility genes. One of these genes, TNIP1, encodes the ABIN1 protein. ABIN1 functions in the immune system by restricting NF-κB signaling. The present study was undertaken to investigate the genetic factors that influence association with SLE in genes that regulate the NF-κB pathway.MethodsWe analyzed a dense set of genetic markers spanning TNIP1 and TAX1BP1, as well as the TNIP1 homolog TNIP2, in case-control populations of diverse ethnic origins. TNIP1, TNIP2, and TAX1BP1 were fine-mapped in a total of 8,372 SLE cases and 7,492 healthy controls from European-ancestry, African American, Hispanic, East Asian, and African American Gullah populations. Levels of TNIP1 messenger RNA (mRNA) and ABIN1 protein in Epstein-Barr virus-transformed human B cell lines were analyzed by quantitative reverse transcription-polymerase chain reaction and Western blotting, respectively.ResultsWe found significant associations between SLE and genetic variants within TNIP1, but not in TNIP2 or TAX1BP1. After resequencing and imputation, we identified 2 independent risk haplotypes within TNIP1 in individuals of European ancestry that were also present in African American and Hispanic populations. Levels of TNIP1 mRNA and ABIN1 protein were reduced among subjects with these haplotypes, suggesting that they harbor hypomorphic functional variants that influence susceptibility to SLE by restricting ABIN1 expression.ConclusionOur results confirm the association signals between SLE and TNIP1 variants in multiple populations and provide new insight into the mechanism by which TNIP1 variants may contribute to SLE pathogenesis.

Published
2012

21. Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian–European populations

Author

Sánchez, Elena, Rasmussen, Astrid, Riba, Laura, Acevedo‐Vasquez, Eduardo, Kelly, Jennifer A, Langefeld, Carl D, Williams, Adrianne H, Ziegler, Julie T, Comeau, Mary E, Marion, Miranda C, La Torre, Ignacio García‐De, Maradiaga‐Ceceña, Marco A, Cardiel, Mario H, Esquivel‐Valerio, Jorge A, Rodriguez‐Amado, Jacqueline, Moctezuma, José Francisco, Miranda, Pedro, Perandones, Carlos E, Castel, Cecilia, Laborde, Hugo A, Alba, Paula, Musuruana, Jorge L, Goecke, I Annelise, Anaya, Juan‐Manuel, Kaufman, Kenneth M, Adler, Adam, Glenn, Stuart B, Brown, Elizabeth E, Alarcón, Graciela S, Kimberly, Robert P, Edberg, Jeffrey C, Vilá, Luis M, Criswell, Lindsey A, Gilkeson, Gary S, Niewold, Timothy B, Martín, Javier, Vyse, Timothy J, Boackle, Susan A, Ramsey‐Goldman, Rosalind, Scofield, R Hal, Petri, Michelle, Merrill, Joan T, Reveille, John D, Tsao, Betty P, Orozco, Lorena, Baca, Vicente, Moser, Kathy L, Gaffney, Patrick M, James, Judith A, Harley, John B, Tusié‐Luna, Teresa, Pons‐Estel, Bernardo A, Jacob, Chaim O, and Alarcón‐Riquelme, Marta E

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Health Sciences, Genetics, Autoimmune Disease, Clinical Research, Lupus, Kidney Disease, American Indian or Alaska Native, Inflammatory and immune system, Adolescent, Adult, Child, Female, Genetic Predisposition to Disease, Genotype, Humans, Indians, North American, Indians, South American, Lupus Erythematosus, Systemic, Lupus Nephritis, Male, Middle Aged, Morbidity, Prevalence, Risk Factors, Socioeconomic Factors, White People, Young Adult, Clinical Sciences, Immunology, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences
Abstract

ObjectiveAmerican Indian-Europeans, Asians, and African Americans have an excess morbidity from systemic lupus erythematosus (SLE) and a higher prevalence of lupus nephritis than do Caucasians. The aim of this study was to analyze the relationship between genetic ancestry and sociodemographic characteristics and clinical features in a large cohort of American Indian-European SLE patients.MethodsA total of 2,116 SLE patients of American Indian-European origin and 4,001 SLE patients of European descent for whom we had clinical data were included in the study. Genotyping of 253 continental ancestry-informative markers was performed on the Illumina platform. Structure and Admixture software were used to determine genetic ancestry proportions of each individual. Logistic regression was used to test the association between genetic ancestry and sociodemographic and clinical characteristics. Odds ratios (ORs) were calculated with 95% confidence intervals (95% CIs).ResultsThe average American Indian genetic ancestry of 2,116 SLE patients was 40.7%. American Indian genetic ancestry conferred increased risks of renal involvement (P < 0.0001, OR 3.50 [95% CI 2.63- 4.63]) and early age at onset (P < 0.0001). American Indian ancestry protected against photosensitivity (P < 0.0001, OR 0.58 [95% CI 0.44-0.76]), oral ulcers (P < 0.0001, OR 0.55 [95% CI 0.42-0.72]), and serositis (P < 0.0001, OR 0.56 [95% CI 0.41-0.75]) after adjustment for age, sex, and age at onset. However, age and sex had stronger effects than genetic ancestry on malar rash, discoid rash, arthritis, and neurologic involvement.ConclusionIn general, American Indian genetic ancestry correlates with lower sociodemographic status and increases the risk of developing renal involvement and SLE at an earlier age.

Published
2012

22. Genetic Risk Factors for Thrombosis in Systemic Lupus Erythematosus

Author

Kaiser, Rachel, Li, Yonghong, Chang, Monica, Catanese, Joseph, Begovich, Ann B, Brown, Elizabeth E, Edberg, Jeffrey C, McGwin, Gerald, Alarcón, Graciela S, Ramsey-Goldman, Rosalind, Reveille, John D, Vilá, Luis M, Petri, Michelle A, Kimberly, Robert P, Taylor, Kimberly E, and Criswell, Lindsey A

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Immunology, Autoimmune Disease, Cardiovascular, Genetics, Clinical Research, Hematology, Lupus, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Adult, Alleles, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Logistic Models, Lupus Erythematosus, Systemic, Male, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Thrombosis, SYSTEMIC LUPUS ERYTHEMATOSUS, THROMBOSIS, POLYMORPHISM, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences
Abstract

ObjectiveThrombosis is a serious complication of systemic lupus erythematosus (SLE). We investigated whether genetic variants implicated in thrombosis pathways are associated with thrombosis among 2 ethnically diverse SLE cohorts.MethodsOur discovery cohort consisted of 1698 patients with SLE enrolled in the University of California, San Francisco, Lupus Genetics Project and our replication cohort included 1361 patients with SLE enrolled in the PROFILE cohort. Patients fulfilled American College of Rheumatology SLE criteria, and data relevant to thrombosis were available. Thirty-three single nucleotide polymorphisms (SNP) previously shown to be associated with risk of deep venous thrombosis in the general population or implicated in thrombosis pathways were genotyped and tested for association with thrombosis in bivariate allelic analyses. SNP with p < 0.1 in the bivariate analyses were further tested in multivariable logistic regression models adjusted for age, sex, disease duration, antiphospholipid antibody status, smoking, nephritis, and medications.ResultsIn the discovery cohort, 23% of patients with SLE experienced a thrombotic event. SNP in the following genes demonstrated association with thrombosis risk overall in the discovery or replication cohorts and were assessed using metaanalytic methods: factor V Leiden (FVL) rs6025 (OR 1.85, p = 0.02) and methylenetetrahydrofolate reductase (MTHFR) rs1801133 (OR 0.75, p = 0.04) in whites, and fibrinogen gamma (FGG) rs2066865 (OR 1.91, p = 0.01) in Hispanic Americans. SNP in these genes showed association with venous thrombosis risk in whites: MTHFR rs1801131 (OR 1.51, p = 0.01), MTHFR rs1801133 (OR 0.70, p = 0.04), FVL rs6025 (OR 2.69, p = 0.002), and FGG rs2066865 (OR 1.49, p = 0.02) in whites. A SNP in FGG rs2066865 (OR 2.19, p = 0.003) demonstrated association with arterial thrombosis risk in Hispanics.ConclusionOur results implicate specific genetic risk factors for thrombosis in patients with SLE and suggest that genetic risk for thrombosis differs across ethnic groups.

Published
2012

23. Evaluation of TRAF6 in a large multiancestral lupus cohort

Author

Namjou, Bahram, Choi, Chan‐Bum, Harley, Isaac TW, Alarcón‐Riquelme, Marta E, Network, BIOLUPUS, Kelly, Jennifer A, Glenn, Stuart B, Ojwang, Joshua O, Adler, Adam, Kim, Kwangwoo, Gallant, Caroline J, Boackle, Susan A, Criswell, Lindsey A, Kimberly, Robert P, Brown, Elizabeth E, Edberg, Jeffrey, Alarcón, Graciela S, Stevens, Anne M, Jacob, Chaim O, Gilkeson, Gary S, Kamen, Diane L, Tsao, Betty P, Anaya, Juan‐Manuel, Kim, Eun‐Mi, Park, So‐Yeon, Sung, Yoon‐Kyoung, Guthridge, Joel M, Merrill, Joan T, Petri, Michelle, Ramsey‐Goldman, Rosalind, Vilá, Luis M, Niewold, Timothy B, Martin, Javier, Pons‐Estel, Bernardo A, Network, Genoma en Lupus, Vyse, Timothy J, Freedman, Barry I, Moser, Kathy L, Gaffney, Patrick M, Williams, Adrienne H, Comeau, Mary E, Reveille, John D, Kang, Changwon, James, Judith A, Scofield, R Hal, Langefeld, Carl D, Kaufman, Kenneth M, Harley, John B, and Bae, Sang‐Cheol

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Lupus, Clinical Research, Arthritis, Autoimmune Disease, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Alleles, Case-Control Studies, Cohort Studies, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Lupus Erythematosus, Systemic, Male, Polymorphism, Single Nucleotide, TNF Receptor-Associated Factor 6, BIOLUPUS Network, Genoma en Lupus Network, Clinical Sciences, Immunology, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences
Abstract

ObjectiveSystemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with significant immune system aberrations resulting from complex heritable genetics as well as environmental factors. We undertook to study the role of TRAF6 as a candidate gene for SLE, since it plays a major role in several signaling pathways that are important for immunity and organ development.MethodsFifteen single-nucleotide polymorphisms (SNPs) across TRAF6 were evaluated in 7,490 SLE patients and 6,780 control subjects from different ancestries. Population-based case-control association analyses and meta-analyses were performed. P values, false discovery rate q values, and odds ratios (ORs) with 95% confidence intervals (95% CIs) were calculated.ResultsEvidence of associations was detected in multiple SNPs. The best overall P values were obtained for SNPs rs5030437 and rs4755453 (P = 7.85 × 10(-5) and P = 4.73 × 10(-5) , respectively) without significant heterogeneity among populations (P = 0.67 and P = 0.50, respectively, in Q statistic). In addition, SNP rs540386, which was previously reported to be associated with rheumatoid arthritis (RA), was found to be in linkage disequilibrium with these 2 SNPs (r(2) = 0.95) and demonstrated evidence of association with SLE in the same direction (meta-analysis P = 9.15 × 10(-4) , OR 0.89 [95% CI 0.83-0.95]). The presence of thrombocytopenia improved the overall results in different populations (meta-analysis P = 1.99 × 10(-6) , OR 0.57 [95% CI 0.45-0.72], for rs5030470). Finally, evidence of family-based association in 34 African American pedigrees with the presence of thrombocytopenia was detected in 1 available SNP (rs5030437) with a Z score magnitude of 2.28 (P = 0.02) under a dominant model.ConclusionOur data indicate the presence of association of TRAF6 with SLE, consistent with the previous report of association with RA. These data provide further support for the involvement of TRAF6 in the pathogenesis of autoimmunity.

Published
2012

24. Polymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma: A Meta-Analysis of Three Large Cohorts and Functional Characterization

Author

Clavero, Esther, primary, Sanchez-Maldonado, José Manuel, additional, Macauda, Angelica, additional, Ter Horst, Rob, additional, Sampaio-Marques, Belém, additional, Jurczyszyn, Artur, additional, Clay-Gilmour, Alyssa, additional, Stein, Angelika, additional, Hildebrandt, Michelle A. T., additional, Weinhold, Niels, additional, Buda, Gabriele, additional, García-Sanz, Ramón, additional, Tomczak, Waldemar, additional, Vogel, Ulla, additional, Jerez, Andrés, additional, Zawirska, Daria, additional, Wątek, Marzena, additional, Hofmann, Jonathan N., additional, Landi, Stefano, additional, Spinelli, John J., additional, Butrym, Aleksandra, additional, Kumar, Abhishek, additional, Martínez-López, Joaquín, additional, Galimberti, Sara, additional, Sarasquete, María Eugenia, additional, Subocz, Edyta, additional, Iskierka-Jażdżewska, Elzbieta, additional, Giles, Graham G., additional, Rybicka-Ramos, Malwina, additional, Kruszewski, Marcin, additional, Abildgaard, Niels, additional, Verdejo, Francisco García, additional, Sánchez Rovira, Pedro, additional, da Silva Filho, Miguel Inacio, additional, Kadar, Katalin, additional, Razny, Małgorzata, additional, Cozen, Wendy, additional, Pelosini, Matteo, additional, Jurado, Manuel, additional, Bhatti, Parveen, additional, Dudzinski, Marek, additional, Druzd-Sitek, Agnieszka, additional, Orciuolo, Enrico, additional, Li, Yang, additional, Norman, Aaron D., additional, Zaucha, Jan Maciej, additional, Reis, Rui Manuel, additional, Markiewicz, Miroslaw, additional, Rodríguez Sevilla, Juan José, additional, Andersen, Vibeke, additional, Jamroziak, Krzysztof, additional, Hemminki, Kari, additional, Berndt, Sonja I., additional, Rajkumar, Vicent, additional, Mazur, Grzegorz, additional, Kumar, Shaji K., additional, Ludovico, Paula, additional, Nagler, Arnon, additional, Chanock, Stephen J., additional, Dumontet, Charles, additional, Machiela, Mitchell J., additional, Varkonyi, Judit, additional, Camp, Nicola J., additional, Ziv, Elad, additional, Vangsted, Annette Juul, additional, Brown, Elizabeth E., additional, Campa, Daniele, additional, Vachon, Celine M., additional, Netea, Mihai G., additional, Canzian, Federico, additional, Försti, Asta, additional, and Sainz, Juan, additional

Published
2023
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26. Data from HLA Class I and II Diversity Contributes to the Etiologic Heterogeneity of Non-Hodgkin Lymphoma Subtypes

Author

Wang, Sophia S., primary, Carrington, Mary, primary, Berndt, Sonja I., primary, Slager, Susan L., primary, Bracci, Paige M., primary, Voutsinas, Jenna, primary, Cerhan, James R., primary, Smedby, Karin E., primary, Hjalgrim, Henrik, primary, Vijai, Joseph, primary, Morton, Lindsay M., primary, Vermeulen, Roel, primary, Paltiel, Ora, primary, Vajdic, Claire M., primary, Linet, Martha S., primary, Nieters, Alexandra, primary, de Sanjose, Silvia, primary, Cozen, Wendy, primary, Brown, Elizabeth E., primary, Turner, Jennifer, primary, Spinelli, John J., primary, Zheng, Tongzhang, primary, Birmann, Brenda M., primary, Flowers, Christopher R., primary, Becker, Nikolaus, primary, Holly, Elizabeth A., primary, Kane, Eleanor, primary, Weisenburger, Dennis, primary, Maynadie, Marc, primary, Cocco, Pierluigi, primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Teras, Lauren R., primary, Diver, W. Ryan, primary, Lax, Stephanie J., primary, Travis, Ruth C., primary, Kaaks, Rudolph, primary, Riboli, Elio, primary, Benavente, Yolanda, primary, Brennan, Paul, primary, McKay, James, primary, Delfau-Larue, Marie-Hélène, primary, Link, Brian K., primary, Magnani, Corrado, primary, Ennas, Maria Grazia, primary, Latte, Giancarlo, primary, Feldman, Andrew L., primary, Doo, Nicole Wong, primary, Giles, Graham G., primary, Southey, Melissa C., primary, Milne, Roger L., primary, Offit, Kenneth, primary, Musinsky, Jacob, primary, Arslan, Alan A., primary, Purdue, Mark P., primary, Adami, Hans-Olov, primary, Melbye, Mads, primary, Glimelius, Bengt, primary, Conde, Lucia, primary, Camp, Nicola J., primary, Glenn, Martha, primary, Curtin, Karen, primary, Clavel, Jacqueline, primary, Monnereau, Alain, primary, Cox, David G., primary, Ghesquières, Hervé, primary, Salles, Gilles, primary, Bofetta, Paulo, primary, Foretova, Lenka, primary, Staines, Anthony, primary, Davis, Scott, primary, Severson, Richard K., primary, Lan, Qing, primary, Brooks-Wilson, Angela, primary, Smith, Martyn T., primary, Roman, Eve, primary, Kricker, Anne, primary, Zhang, Yawei, primary, Kraft, Peter, primary, Chanock, Stephen J., primary, Rothman, Nathaniel, primary, Hartge, Patricia, primary, and Skibola, Christine F., primary

Published
2023
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27. Supplementary data from Young Adult and Usual Adult Body Mass Index and Multiple Myeloma Risk: A Pooled Analysis in the International Multiple Myeloma Consortium (IMMC)

Author

Birmann, Brenda M., primary, Andreotti, Gabriella, primary, De Roos, Anneclaire J., primary, Camp, Nicola J., primary, Chiu, Brian C.H., primary, Spinelli, John J., primary, Becker, Nikolaus, primary, Benhaim-Luzon, Véronique, primary, Bhatti, Parveen, primary, Boffetta, Paolo, primary, Brennan, Paul, primary, Brown, Elizabeth E., primary, Cocco, Pierluigi, primary, Costas, Laura, primary, Cozen, Wendy, primary, de Sanjosé, Silvia, primary, Foretová, Lenka, primary, Giles, Graham G., primary, Maynadié, Marc, primary, Moysich, Kirsten, primary, Nieters, Alexandra, primary, Staines, Anthony, primary, Tricot, Guido, primary, Weisenburger, Dennis, primary, Zhang, Yawei, primary, Baris, Dalsu, primary, and Purdue, Mark P., primary

Published
2023
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28. Distinct phenotype of neutrophil, monocyte, and eosinophil populations indicates altered myelopoiesis in a subset of patients with multiple myeloma

Author

Ong, Krystle L., primary, Davis, Marcus D., additional, Purnell, Kalyn K., additional, Cutshall, Hannah, additional, Pal, Harish C., additional, Connelly, Ashley N., additional, Fay, Christian X., additional, Kuznetsova, Valeriya, additional, Brown, Elizabeth E., additional, and Hel, Zdenek, additional

Published
2023
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31. Contributors

Author

Acker, Shannon N., primary, Adams, Megan, additional, Albuja-Cruz, Maria B., additional, Alexander, Jason Q., additional, Anderson, Benjamin O., additional, Arron, Sarah Tuttleton, additional, Bak, Thomas, additional, Barnett, Carlton C., additional, Baxter, Bernard Timothy, additional, Beauchamp, Kathryn, additional, Bhuket, Taft, additional, Biffl, Walter L., additional, Bir, Natasha D., additional, Bischoff, Andrea, additional, Blaschko, Sarah D., additional, Brakenridge, Scott C., additional, Bredbeck, Brooke C., additional, Brew, Elizabeth C., additional, Brinckerhoff, Laurence H., additional, Brooke, Magdalene A., additional, Brown, Elizabeth E., additional, Brown, James M., additional, Bruny, Jennifer L., additional, Bui, Eric, additional, Bullard, M. Kelley, additional, Burlew, Clay Cothren, additional, Calhoun, Kristine E., additional, Campion, Eric M., additional, Capek, Karel D., additional, Chapman, John, additional, Choi, Chun W., additional, Chomsky-Higgins, Kathryn H., additional, Ciesla, David J., additional, Cleveland, Joseph C., additional, Crandall, Marie, additional, Croft, Chasen A., additional, Crombleholme, Timothy M., additional, Cushman, James, additional, Davis, Stephanie N., additional, Donalisio da Silva, Rodrigo, additional, Eun, John C., additional, Evans, Chadrick R., additional, Finlayson, Christina A., additional, Foley, Lisa S., additional, Fox, Charles J., additional, Freese, Krister, additional, Fullerton, David A., additional, Geelhoed, Glenn W., additional, Graf, Jahanara, additional, Green, Amanda J., additional, Ha, Richard-Tien V., additional, Haenel, James B., additional, Hak, David J., additional, Hamm, Aidan D., additional, Harken, Alden H., additional, Harken, Tabetha R., additional, Herndon, David N., additional, Hurt, Brian, additional, Imhoff, Laurel R., additional, Indresano, A. Thomas, additional, Ipaktchi, Kyros, additional, Ito, Timothy K., additional, Jamaleddine, Ghassan, additional, Johnson, Jeffrey L., additional, Jones, Edward L., additional, Kim, Fernando J., additional, Kulungowski, Ann M., additional, Kumar, Ramesh M., additional, LaFace, Angela R., additional, Lawless, Ryan A., additional, Lepore, Michael L., additional, Liscum, Kathleen R., additional, Liu, Benny, additional, Liu, Jeffrey C., additional, Lo, Karen K., additional, Lu, Ning, additional, Malliaris, Stephanie D., additional, Mathes, David W., additional, McCarter, Martin D., additional, McIntyre, Robert C., additional, McKenna, Logan R., additional, Meldrum, Daniel R., additional, Miraflor, Emily, additional, Moore, Ernest E., additional, Moore, Hunter B., additional, Moore, Peter K., additional, Moore, Scott M., additional, Morgan, Ashley Eleen, additional, Nguyen, Tony, additional, Nydam, Trevor L., additional, Oottamasathien, Siam, additional, Overbey, Douglas M., additional, Palmer, Barnard J.A., additional, Park, Chan M., additional, Partrick, David A., additional, Pearlman, Nathan W., additional, Peltz, Eric D., additional, Peña, Alberto, additional, Pessoa, Rodrigo, additional, Pshak, Thomas, additional, Raeburn, Christopher D., additional, Reece, T. Brett, additional, Rehring, Thomas F., additional, Ridge, John A., additional, Roach, Jonathan P., additional, Robinson, Thomas N., additional, Rosenthal, Martin D., additional, Selzman, Craig, additional, Shackford, Steven R., additional, Shook, Erica, additional, Skarupa, David J., additional, Sømme, Stig, additional, Stahel, Philip F., additional, Suh, Melissa K., additional, Swanson, John M., additional, Swift, U. Mini B., additional, Tello, Tiffany L., additional, Tessler, Robert A., additional, Torphy, Robert J., additional, VanderHeiden, Todd F., additional, Vanzant, Erin L., additional, Victorino, Gregory P., additional, Werahera, Priya N., additional, Williams, Jessica L., additional, Wong, Robert, additional, Yamaguchi, Yuka, additional, and Zanotti, Giorgio, additional

Published
2018
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32. Multiple Myeloma

Author

Purdue, Mark P., primary, Hofmann, Jonathan N., additional, Brown, Elizabeth E., additional, and Vachon, Celine M., additional

Published
2017
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33. Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia

Author

McMaster, Mary L., Berndt, Sonja I., Zhang, Jianqing, Slager, Susan L., Li, Shengchao Alfred, Vajdic, Claire M., Smedby, Karin E., Yan, Huihuang, Birmann, Brenda M., Brown, Elizabeth E., Smith, Alex, Kleinstern, Geffen, Fansler, Mervin M., Mayr, Christine, Zhu, Bin, Chung, Charles C., Park, Ju-Hyun, Burdette, Laurie, Hicks, Belynda D., Hutchinson, Amy, Teras, Lauren R., Adami, Hans-Olov, Bracci, Paige M., McKay, James, Monnereau, Alain, Link, Brian K., Vermeulen, Roel C. H., Ansell, Stephen M., Maria, Ann, Diver, W. Ryan, Melbye, Mads, Ojesina, Akinyemi I., Kraft, Peter, Boffetta, Paolo, Clavel, Jacqueline, Giovannucci, Edward, Besson, Caroline M., Canzian, Federico, Travis, Ruth C., Vineis, Paolo, Weiderpass, Elisabete, Montalvan, Rebecca, Wang, Zhaoming, Yeager, Meredith, Becker, Nikolaus, Benavente, Yolanda, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, Nieters, Alexandra, de Sanjose, Silvia, Staines, Anthony, Conde, Lucia, Riby, Jacques, Glimelius, Bengt, Hjalgrim, Henrik, Pradhan, Nisha, Feldman, Andrew L., Novak, Anne J., Lawrence, Charles, Bassig, Bryan A., Lan, Qing, Zheng, Tongzhang, North, Kari E., Tinker, Lesley F., Cozen, Wendy, Severson, Richard K., Hofmann, Jonathan N., Zhang, Yawei, Jackson, Rebecca D., Morton, Lindsay M., Purdue, Mark P., Chatterjee, Nilanjan, Offit, Kenneth, Cerhan, James R., Chanock, Stephen J., Rothman, Nathaniel, Vijai, Joseph, Goldin, Lynn R., Skibola, Christine F., and Caporaso, Neil E.

Published
2018
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35. 1401 A Genome Wide Association Scan of SLE genetic risk in a cohort of African-American persons

Author

Harley, Isaac TW, primary, Sun, Celi, additional, Williams, Adrienne H, additional, Ziegler, Julie T, additional, Comeau, Mary E, additional, Marion, Miranda C, additional, Glenn, Stuart B, additional, Adler, Adam, additional, Frank-Pearce, Summer G, additional, Shen, Nan, additional, Kelly, Jennifer A, additional, Namjou-Khales, Bahram, additional, Petri, Michelle, additional, Alarcon-Riquelme, Marta, additional, Joseph McCune, W, additional, Gaffney, Patrick, additional, Sivils, Kathy, additional, Salmon, Jane E, additional, Weisman, Michael H, additional, Edberg, Jeffrey C, additional, Brown, Elizabeth E, additional, Utset, Tammy, additional, Criswell, Lindsey A, additional, Jacob, Chaim O, additional, Tsao, Betty, additional, Vyse, Timothy J, additional, James, Judith A, additional, Gilkeson, Gary S, additional, Kamen, Diane L, additional, Montgomery, Courtney, additional, Merrill, Joan T, additional, Nath, Swapan K, additional, Laurynenka, Viktoryia, additional, Chepelev, Iouri, additional, Harris-Lewis, Valerie, additional, Hal Scofield, R, additional, Kimberly, Robert P, additional, Langefeld, Carl D, additional, Harley, John B, additional, and Kaufman, Kenneth M, additional

Published
2022
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36. Variability in Pattern of Mutational Signatures in Multiple Myeloma As a Function of Racial Origin

Author

Blaney, Patrick, primary, Boyle, Eileen M, additional, Maclachlan, Kylee H, additional, Williams, Louis S., additional, Gagler, Dylan, additional, Sudha, Parvathi, additional, Poos, Alexandra M, additional, Wang, Yubao, additional, Ghamlouch, Hussein, additional, Tenenbaum, Avital, additional, Siegel, Ariel, additional, Chen, Xiaoyi, additional, Varma, Gaurav, additional, Kaminetzsky, David, additional, Braunstein, Marc, additional, Coffey, David, additional, Diamond, Benjamin, additional, Ziccheddu, Bachisio, additional, Kazandjian, Dickran, additional, Shah, Urvi A, additional, Brown, Elizabeth E., additional, Manasanch, Elisabet E., additional, Lesokhin, Alexander M, additional, Weinhold, Niels, additional, Walker, Brian A., additional, Usmani, Saad, additional, Landgren, Ola, additional, Davies, Faith E, additional, Maura, Francesco, additional, and Morgan, Gareth J., additional

Published
2022
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38. A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk

Author

Dicanio, Marco, primary, Giaccherini, Matteo, additional, Clay‐Gilmour, Alyssa, additional, Macauda, Angelica, additional, Sainz, Juan, additional, Machiela, Mitchell J., additional, Rybicka‐Ramos, Malwina, additional, Norman, Aaron D., additional, Tyczyńska, Agata, additional, Chanock, Stephen J., additional, Barington, Torben, additional, Kumar, Shaji K., additional, Bhatti, Parveen, additional, Cozen, Wendy, additional, Brown, Elizabeth E., additional, Suska, Anna, additional, Haastrup, Eva K., additional, Orlowski, Robert Z., additional, Dudziński, Marek, additional, Garcia‐Sanz, Ramon, additional, Kruszewski, Marcin, additional, Martinez‐Lopez, Joaquin, additional, Beider, Katia, additional, Iskierka‐Jazdzewska, Elżbieta, additional, Pelosini, Matteo, additional, Berndt, Sonja I., additional, Raźny, Małgorzata, additional, Jamroziak, Krzysztof, additional, Rajkumar, S. Vincent, additional, Jurczyszyn, Artur, additional, Vangsted, Annette Juul, additional, Collado, Pilar Garrido, additional, Vogel, Ulla, additional, Hofmann, Jonathan N., additional, Petrini, Mario, additional, Butrym, Aleksandra, additional, Slager, Susan L., additional, Ziv, Elad, additional, Subocz, Edyta, additional, Giles, Graham G., additional, Andersen, Niels Frost, additional, Mazur, Grzegorz, additional, Watek, Marzena, additional, Lesueur, Fabienne, additional, Hildebrandt, Michelle A. T., additional, Zawirska, Daria, additional, Ebbesen, Lene Hyldahl, additional, Marques, Herlander, additional, Gemignani, Federica, additional, Dumontet, Charles, additional, Várkonyi, Judit, additional, Buda, Gabriele, additional, Nagler, Arnon, additional, Druzd‐Sitek, Agnieszka, additional, Wu, Xifeng, additional, Kadar, Katalin, additional, Camp, Nicola J., additional, Grzasko, Norbert, additional, Waller, Rosalie G., additional, Vachon, Celine, additional, Canzian, Federico, additional, and Campa, Daniele, additional

Published
2022
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39. Does a Multiple Myeloma Polygenic Risk Score Predict Overall Survival of Patients with Myeloma?

Author

Macauda, Angelica, primary, Clay-Gilmour, Alyssa, additional, Hielscher, Thomas, additional, Hildebrandt, Michelle A.T., additional, Kruszewski, Marcin, additional, Orlowski, Robert Z., additional, Kumar, Shaji K., additional, Ziv, Elad, additional, Orciuolo, Enrico, additional, Brown, Elizabeth E., additional, Försti, Asta, additional, Waller, Rosalie G., additional, Machiela, Mitchell J., additional, Chanock, Stephen J., additional, Camp, Nicola J., additional, Rymko, Marcin, additional, Raźny, Małgorzata, additional, Cozen, Wendy, additional, Várkonyi, Judit, additional, Piredda, Chiara, additional, Pelosini, Matteo, additional, Belachew, Alem A., additional, Subocz, Edyta, additional, Hemminki, Kari, additional, Rybicka-Ramos, Malwina, additional, Giles, Graham G., additional, Milne, Roger L., additional, Hofmann, Jonathan N., additional, Zaucha, Jan Maciej, additional, Vangsted, Annette Juul, additional, Goldschmidt, Hartmut, additional, Rajkumar, S. Vincent, additional, Tomczak, Waldemar, additional, Sainz, Juan, additional, Butrym, Aleksandra, additional, Watek, Marzena, additional, Iskierka-Jazdzewska, Elżbieta, additional, Buda, Gabriele, additional, Robinson, Dennis P., additional, Jurczyszyn, Artur, additional, Dudziński, Marek, additional, Martinez-Lopez, Joaquin, additional, Sinnwell, Jason P., additional, Slager, Susan L., additional, Jamroziak, Krzysztof, additional, Reis, Rui Manuel Vieira, additional, Weinhold, Niels, additional, Bhatti, Parveen, additional, Carvajal-Carmona, Luis G., additional, Zawirska, Daria, additional, Norman, Aaron D., additional, Mazur, Grzegorz, additional, Berndt, Sonja I., additional, Campa, Daniele, additional, Vachon, Celine M., additional, and Canzian, Federico, additional

Published
2022
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40. Does a multiple myeloma polygenic risk score predict overall survival of myeloma patients?

Author

Macauda, Angelica, Clay-Gilmour, Alyssa, Hielscher, Thomas, Hildebrandt, Michelle A.T., Kruszewski, Marcin, Orlowski, Robert Z., Kumar, Shaji K., Ziv, Elad, Orciuolo, Enrico, Brown, Elizabeth E., Forsti, Asta, Waller, Rosalie G., Machiela, Mitchell J., Chanock, Stephen J., Camp, Nicola J., Rymko, Marcin, Raźny, Malgorzata, Cozen, Wendy, Varkonyi, Judit, Piredda, Chiara, Pelosini, Matteo, Belachew, Alem A., Subocz, Edyta, Hemminki, Kari, Rybicka-Ramos, Malwina, Giles, Graham G., Milne, Roger L., Hofmann, Jonathan N., Zaucha, Jan Maciej, Vangsted, Annette Juul, Goldschmidt, Hartmut, Rajkumar, S. Vincent, Tomczak, Waldemar, Sainz, Juan, Butrym, Aleksandra, Watek, Marzena, Iskierka-Jazdzewska, Elzbieta, Buda, Gabriele, Robinson, Dennis P., Jurczyszyn, Artur, Dudzinski, Marek, Martinez-Lopez, Joaquin, Sinnwell, Jason P., Slager, Susan L., Jamroziak, Krzysztof, Reis, Rui Manuel, Weinhold, Niels, Bhatti, Parveen, Carvajal-Carmona, Luis G., Zawirska, Daria, Norman, Aaron D., Mazur, Grzegorz, Berndt, Sonja I., Campa, Daniele, Vachon, Celine M., and Canzian, Federico

Published
2022

41. A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk.

Author

Dicanio, Marco, Giaccherini, Matteo, Clay‐Gilmour, Alyssa, Macauda, Angelica, Sainz, Juan, Machiela, Mitchell J., Rybicka‐Ramos, Malwina, Norman, Aaron D., Tyczyńska, Agata, Chanock, Stephen J., Barington, Torben, Kumar, Shaji K., Bhatti, Parveen, Cozen, Wendy, Brown, Elizabeth E., Suska, Anna, Haastrup, Eva K., Orlowski, Robert Z., Dudziński, Marek, and Garcia‐Sanz, Ramon

Subjects
MULTIPLE myeloma, CELL cycle regulation, SINGLE nucleotide polymorphisms, GENETIC variation, RNA-binding proteins
Abstract

Pleiotropy, which consists of a single gene or allelic variant affecting multiple unrelated traits, is common across cancers, with evidence for genome‐wide significant loci shared across cancer and noncancer traits. This feature is particularly relevant in multiple myeloma (MM) because several susceptibility loci that have been identified to date are pleiotropic. Therefore, the aim of this study was to identify novel pleiotropic variants involved in MM risk using 28 684 independent single nucleotide polymorphisms (SNPs) from GWAS Catalog that reached a significant association (P < 5 × 10−8) with their respective trait. The selected SNPs were analyzed in 2434 MM cases and 3446 controls from the International Lymphoma Epidemiology Consortium (InterLymph). The 10 SNPs showing the strongest associations with MM risk in InterLymph were selected for replication in an independent set of 1955 MM cases and 1549 controls from the International Multiple Myeloma rESEarch (IMMEnSE) consortium and 418 MM cases and 147 282 controls from the FinnGen project. The combined analysis of the three studies identified an association between DNAJB4‐rs34517439‐A and an increased risk of developing MM (OR = 1.22, 95%CI 1.13‐1.32, P = 4.81 × 10−7). rs34517439‐A is associated with a modified expression of the FUBP1 gene, which encodes a multifunctional DNA and RNA‐binding protein that it was observed to influence the regulation of various genes involved in cell cycle regulation, among which various oncogenes and oncosuppressors. In conclusion, with a pleiotropic scan approach we identified DNAJB4‐rs34517439 as a potentially novel MM risk locus. [ABSTRACT FROM AUTHOR]

Published
2023
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44. B-Cell NHL Subtype Risk Associated with Autoimmune Conditions and PRS

Author

Wang, Sophia S., primary, Vajdic, Claire M., additional, Linet, Martha S., additional, Slager, Susan L., additional, Voutsinas, Jenna, additional, Nieters, Alexandra, additional, Casabonne, Delphine, additional, Cerhan, James R., additional, Cozen, Wendy, additional, Alarcón, Graciela, additional, Martínez-Maza, Otoniel, additional, Brown, Elizabeth E., additional, Bracci, Paige M., additional, Turner, Jennifer, additional, Hjalgrim, Henrik, additional, Bhatti, Parveen, additional, Zhang, Yawei, additional, Birmann, Brenda M., additional, Flowers, Christopher R., additional, Paltiel, Ora, additional, Holly, Elizabeth A., additional, Kane, Eleanor, additional, Weisenburger, Dennis D., additional, Maynadié, Marc, additional, Cocco, Pierluigi, additional, Foretova, Lenka, additional, Breen, Elizabeth Crabb, additional, Lan, Qing, additional, Brooks-Wilson, Angela, additional, De Roos, Anneclaire J., additional, Smith, Martyn T., additional, Roman, Eve, additional, Boffetta, Paolo, additional, Kricker, Anne, additional, Zheng, Tongzhang, additional, Skibola, Christine F., additional, Clavel, Jacqueline, additional, Monnereau, Alain, additional, Chanock, Stephen J., additional, Rothman, Nathaniel, additional, Benavente, Yolanda, additional, Hartge, Patricia, additional, and Smedby, Karin E., additional

Published
2022
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48. Host Immunogenetics and Control of Human Herpesvirus-8 Infection

Author

Kaposi Sarcoma Genetics Working Group, Brown, Elizabeth E., Fallin, M. Daniele, Goedert, James J., Hutchinson, Amy, Vitale, Francesco, Lauria, Carmela, Giuliani, Massimo, Marshall, Vickie, Mbisa, Georgina, Serraino, Diego, Messina, Angelo, Durum, Scott, Whitby, Denise, and Chanock, Stephen J.

Published
2006

49. Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA

Author

Zhao, Jian, Giles, Brendan M, Taylor, Rhonda L, Yette, Gabriel A, Lough, Kara M, Ng, Han Leng, Abraham, Lawrence J, Wu, Hui, Kelly, Jennifer A, Glenn, Stuart B, Adler, Adam J, Williams, Adrienne H, Comeau, Mary E, Ziegler, Julie T, Marion, Miranda, Alarcón-Riquelme, Marta E, Alarcón, Graciela S, Anaya, Juan-Manuel, Bae, Sang-Cheol, Kim, Dam, Lee, Hye-Soon, Criswell, Lindsey A, Freedman, Barry I, Gilkeson, Gary S, Guthridge, Joel M, Jacob, Chaim O, James, Judith A, Kamen, Diane L, Merrill, Joan T, Sivils, Kathy Moser, Niewold, Timothy B, Petri, Michelle A, Ramsey-Goldman, Rosalind, Reveille, John D, Scofield, R Hal, Stevens, Anne M, Vilá, Luis M, Vyse, Timothy J, Kaufman, Kenneth M, Harley, John B, Langefeld, Carl D, Gaffney, Patrick M, Brown, Elizabeth E, Edberg, Jeffrey C, Kimberly, Robert P, Ulgiati, Daniela, Tsao, Betty P, and Boackle, Susan A

Published
2016
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