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1. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

Author

Frackelton Edward C, Deliard Sandra, Garris Maria L, Thomas Kelly A, Keating Brendan J, Hou Cuiping, Glessner Joseph T, Kim Cecilia E, Sleiman Patrick M, Wang Kai, Mentch Frank D, Zhang Haitao, Bradfield Jonathan P, Li Mingyao, Zhao Jianhua, Otieno F George, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon, and Grant Struan FA

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

Abstract Background Human height is considered highly heritable and correlated with certain disorders, such as type 2 diabetes and cancer. Despite environmental influences, genetic factors are known to play an important role in stature determination. A number of genetic determinants of adult height have already been established through genome wide association studies. Methods To examine 51 single nucleotide polymorphisms (SNPs) corresponding to the 46 previously reported genomic loci for height in 8,184 European American children with height measurements. We leveraged genotyping data from our ongoing GWA study of height variation in children in order to query the 51 SNPs in this pediatric cohort. Results Sixteen of these SNPs yielded at least nominally significant association to height, representing fifteen different loci including EFEMP1-PNPT1, GPR126, C6orf173, SPAG17, Histone class 1, HLA class III and GDF5-UQCC. Other loci revealed no evidence for association, including HMGA1 and HMGA2. For the 16 associated variants, the genotype score explained 1.64% of the total variation for height z-score. Conclusion Among 46 loci that have been reported to associate with adult height to date, at least 15 also contribute to the determination of height in childhood.

Published
2010
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2. Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

Author

Li, Dong, Chang, Xiao, Connolly, John J, Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J, Robinson, Nora, Abrams, Debra, Li, Yun R, Bradfield, Jonathan P, Kim, Cecilia E, Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D, Thomas, Kelly A, Chiavacci, Rosetta M, Cone, Roger, Li, Bingshan, Sleiman, Patrick A, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, and Hakonarson, Hakon

Subjects
Biological Sciences, Mathematical Sciences, Genetics, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group
Abstract

A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.

Published
2017

3. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

Author

Li, Dong, Chang, Xiao, Connolly, John J, Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J, Robinson, Nora, Abrams, Debra, Li, Yun R, Bradfield, Jonathan P, Kim, Cecilia E, Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D, Thomas, Kelly A, Chiavacci, Rosetta M, Cone, Roger, Li, Bingshan, Sleiman, Patrick A, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, and Hakonarson, Hakon

Subjects
Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group
Abstract

We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10-7; OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.

Published
2017

4. Phenotype Specific Association of the TGFBR3 Locus with Nonsyndromic Cryptorchidism

Author

Barthold, Julia S., Wang, Yanping, Kolon, Thomas F., Kollin, Claude, Nordenskjöld, Agneta, Olivant Fisher, Alicia, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzalez, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Kim, Cecilia E., Mateson, Abigail B., Robbins, Alan K., Li, Jin, Akins, Robert E., Jr., Hakonarson, Hakon, and Devoto, Marcella

Published
2015
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5. Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions

Author

Barthold, Julia Spencer, Wang, Yanping, Kolon, Thomas F., Kollin, Claude, Nordenskjöld, Agneta, Olivant Fisher, Alicia, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzaléz, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Kim, Cecilia E., Li, Jin, Hakonarson, Hakon, and Devoto, Marcella

Published
2015
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7. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Author

Kruszka, Paul, Li, Dong, Harr, Margaret H, Wilson, Nathan R, Swarr, Daniel, McCormick, Elizabeth M, Chiavacci, Rosetta M, Li, Mindy, Martinez, Ariel F, Hart, Rachel A, McDonald-McGinn, Donna M, Deardorff, Matthew A, Falk, Marni J, Allanson, Judith E, Hudson, Cindy, Johnson, John P, Saadi, Irfan, Hakonarson, Hakon, Muenke, Maximilian, and Zackai, Elaine H

Published
2015
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8. A genome-wide study reveals copy number variants exclusive to childhood obesity cases

Author

Glessner, Joseph T., Bradfield, Jonathan P., Kai Wang, Takahashi, Nagahide, Haitao Zhang, Sleiman, Patrick M., Mentch, Frank D., Kim, Cecilia E., Cuiping Hou, Thomas, Kelly A., Garris, Maria L., Deliard, Sandra, Frackelton, Edward C., Otieno, F. George, Jainhua Zhao, Chiavacci, Rosetta M., Mingyao Li, Buxbaum, Joseph D., Berkowitz, Robert I., Hakonarson, Hakon, and Grant, Struan F.A.

Subjects
Obesity in children -- Genetic aspects, Obesity in children -- Demographic aspects, Single nucleotide polymorphisms -- Analysis, Biological sciences
Abstract

A whole-genome copy number variations (CNV) study in a large cohort of child hood-obesity cases and lean controls of European ancestry who were genotyped with the Illumina Infinium II HumanHap550K BeadChip was performed to examine the CNVs in a large pediatric cohort presenting with common obesity that is primarily nonsyndromic. The results indicated that CNVs contributed to the genetic susceptibility of common childhood obesity in subjects of both European and African ancestry.

Published
2010

9. Variants of DENND1B associated with asthma in children

Author

Sleiman, Patrick M.A., Flory, James, Imielinski, Marcin, Bradfield, Jonathan P., Annaiah, Kiran, Willis-Owen, Saffron A.G., Kai Wang, Rafaels, Nicholas M., Michel, Sven, Bonnelykke, Klaus, Haitao Zhang, Kim, Cecilia E., Frackelton, Edward C., Glessner, Joseph T., Cuiping Hou, Otieno, F. George, Santa, Erin, Thomas, Kelly, Smith, Ryan M., Glaberson, Wendy R., Garris, Maria, Chiavacci, Rosetta M., Beaty, Terri H., Ruczinski, Ingo, Orange, Jordan M., Allen, Julian, Spergel, Jonathan M., Grundmeier, Robert, Mathias, Rasika A., Christie, Jason D., von Mutius, Erika, Cookson, WIlliam O.C., Kabesch, Michael, Moffatt, Miriam F., Grunstein, Michael M., Barnes, Kathleen C., Devoto, Marcella, Magnusson, Mark, Hongzhe Li, Grant, Struan F.A., Bisgaard, Hans, and Hakonarson, Hakon

Subjects
Asthma in children -- Genetic aspects, Corticosteroids -- Usage, Single nucleotide polymorphisms -- Analysis
Abstract

A study was conducted to evaluate whether variants of DENND1B locus may influence the onset of asthma in children. Results have indicated that the locus DENND1B is associated with susceptibility to asthma.

Published
2009

10. Association of Variants of the Interleukin-23 Receptor Gene With Susceptibility to Pediatric Crohn’s Disease

Author

Baldassano, Robert N., Bradfield, Jonathan P., Monos, Dimitri S., Kim, Cecilia E., Glessner, Joseph T., Casalunovo, Tracy, Frackelton, Edward C., Otieno, F. George, Kanterakis, Stathis, Shaner, Julie L., Smith, Ryan M., Eckert, Andrew W., Robinson, Luke J., Onyiah, Chioma C., Abrams, Debra J., Chiavacci, Rosetta M., Skraban, Robert, Devoto, Marcella, Grant, Struan F.A., and Hakonarson, Hakon

Published
2007
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13. Variants of DENND1B Associated with Asthma in Children

Author

Sleiman, Patrick M.A., Flory, James, Imielinski, Marcin, Bradfield, Jonathan P., Annaiah, Kiran, Willis-Owen, Saffron A.G., Wang, Kai, Rafaels, Nicholas M., Michel, Sven, Bonnelykke, Klaus, Zhang, Haitao, Kim, Cecilia E., Frackelton, Edward C., Glessner, Joseph T., Hou, Cuiping, Otieno, George F., Santa, Erin, Thomas, Kelly, Smith, Ryan M., Glaberson, Wendy R., Garris, Maria, Chiavacci, Rosetta M., Beaty, Terri H., Ruczinski, Ingo, Orange, Jordan M., Allen, Julian, Spergel, Jonathan M., Grundmeier, Robert, Mathias, Rasika A., Christie, Jason D., von Mutius, Erika, Cookson, William O.C., Kabesch, Michael, Moffatt, Miriam F., Grunstein, Michael M., Barnes, Kathleen C., Devoto, Marcella, Magnusson, Mark, Li, Hongzhe, Grant, Struan F.A., Bisgaard, Hans, and Hakonarson, Hakon

Published
2010
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14. Examination of Type 2 Diabetes Loci Implicates CDKAL1 as a Birth Weight Gene

Author

Zhao, Jianhua, Li, Mingyao, Bradfield, Jonathan P., Wang, Kai, Zhang, Haitao, Sleiman, Patrick, Kim, Cecilia E., Annaiah, Kiran, Glaberson, Wendy, Glessner, Joseph T., Otieno, F. George, Thomas, Kelly A., Garris, Maria, Hou, Cuiping, Frackelton, Edward C., Chiavacci, Rosetta M., Berkowitz, Robert I., Hakonarson, Hakon, and Grant, Struan F.A.

Published
2009

15. Follow-Up Analysis of Genome-Wide Association Data Identifies Novel Loci for Type 1 Diabetes

Author

Grant, Struan F.A., Qu, Hui-Qi, Bradfield, Jonathan P., Marchand, Luc, Kim, Cecilia E., Glessner, Joseph T., Grabs, Rosemarie, Taback, Shayne P., Frackelton, Edward C., Eckert, Andrew W., Annaiah, Kiran, Lawson, Margaret L., Otieno, F. George, Santa, Erin, Shaner, Julie L., Smith, Ryan M., Skraban, Robert, Imielinski, Marcin, Chiavacci, Rosetta M., Grundmeier, Robert W., Stanley, Charles A., Kirsch, Susan E., Waggott, Daryl, Paterson, Andrew D., Monos, Dimitri S., Polychronakos, Constantin, and Hakonarson, Hakon

Published
2009

16. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry

Author

Sleiman, Patrick M.A., Annaiah, Kiran, Imielinski, Marcin, Bradfield, Jonathan P., Kim, Cecilia E., Frackelton, Edward C., Glessner, Joseph T., Eckert, Andrew W., Otieno, George F., Santa, Erin, Thomas, Kelly, Smith, Ryan M., Glaberson, Wendy, Garris, Maria, Gunnlaugsson, Sigfus, Chiavacci, Rosetta M., Allen, Julian, Spergel, Jonathan, Grundmeier, Robert, Grunstein, Michael M., Magnusson, Mark, Bisgaard, Hans, Grant, Struan F.A., and Hakonarson, Hakon

Published
2008

18. A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study

Author

Hakonarson, Hakon, Qu, Hui-Qi, Bradfield, Jonathan P., Marchand, Luc, Kim, Cecilia E., Glessner, Joseph T., Grabs, Rosemarie, Casalunovo, Tracy, Taback, Shayne P., Frackelton, Edward C., Eckert, Andrew W., Annaiah, Kiran, Lawson, Margaret L., Otieno, F. George, Santa, Erin, Shaner, Julie L., Smith, Ryan M., Onyiah, Chioma C., Skraban, Robert, Chiavacci, Rosetta M., Robinson, Luke J., Stanley, Charles A., Kirsch, Susan E., Devoto, Marcella, Monos, Dimitri S., Grant, Struan F.A., and Polychronakos, Constantin

Published
2008

19. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

Author

Hakonarson, Hakon, Grant, Struan F. A., Bradfield, Jonathan P., Marchand, Luc, Kim, Cecilia E., Glessner, Joseph T., Grabs, Rosemarie, Casalunovo, Tracy, Taback, Shayne P., Frackelton, Edward C., Lawson, Margaret L., Robinson, Luke J., Skraban, Robert, Lu, Yang, Chiavacci, Rosetta M., Stanley, Charles A., Kirsch, Susan E., Rappaport, Eric F., Orange, Jordan S., Monos, Dimitri S., Devoto, Marcella, Qu, Hui-Qi, and Polychronakos, Constantin

Published
2007
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20. Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn’s disease

Author

Baldassano, Robert N, Bradfield, Jonathan P, Monos, Dimitri S, Kim, Cecilia E, Glessner, Joseph T, Casalunovo, Tracy, Frackelton, Edward C, Otieno, F George, Kanterakis, Stathis, Shaner, Julie L, Smith, Ryan M, Eckert, Andrew W, Robinson, Luke J, Onyiah, Chioma C, Abrams, Debra J, Chiavacci, Rosetta M, Skraban, Robert, Devoto, Marcella, Grant, Struan F A, and Hakonarson, Hakon

Published
2007

21. Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (Scientific Reports (2017) 7 (3847) DOI: 10.1038/s41598-017-01674-8)

Author

Dong, Li, Chang, Xiao, Connolly, John J, Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J, Robinson, Nora, Abrams, Debra, Yun R, Li, Bradfield, Jonathan P, Kim, Cecilia E, Jin, Li, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D, Thomas, Kelly A, Chiavacci, Rosetta M, Cone, Roger, Bingshan, Li, Sleiman, Patrick A, Hakonarson, Hakon, and Tortorella, A

Subjects
Multidisciplinary
Published
2017

22. The Soldier and the Animal: metaphor in maintenance of antiretroviral adherence in Ghana’s Eastern Region

Author

Akiyama, Matthew J., Napier, David, Bourque, S., Goldberg, A., Boukh-Viner, T., Gregg, C., Kyryakov, P., Chowdhury, S., Titorenko, V.I., Andrews, S.D., Ateeq, B., Torrisani, J., D’Allesio, A.C., Unterberger, A., OU, J-N, McKinney, A., Rabbani, S., Szyf, M., Berger, Robert G., Hancock, Trina, Decatanzaro, Denys, Antonova, Lilia, Mueller, Christopher R., Fong, Jenna, Bañski, Piotr, Kodiha, Mohamed, Stochaj, Ursula, Moheshwarnath, Issur, Bisaillon, Martin, Brisbin, Sarah E., Chin-Sang, Ian D., Ste-Marie, A., Simard, C., Côté, S., Fucile, S, Gisel, E, Erg, Otr, Lau, C, Bourdeau, Annie, Heinonen, Krista M., Doody, Karen M., Higgins, Emily K., Lee-Loy, Ailsa, Tremblay, Michel L., Banski, Piotr, Leduc, F., Maquennehan, V., Nkoma, G. Bikond, Boissonneault, G., Lim, Letitia Z., Hacking, S. A., Li, A., Wang, H., Harvey, E. J., Henderson, J. E., Prefontaine, D., Lajoie-Kadoch, S., Mogas, A.K., Foley, S., Olivenstein, R., Halayko, A.J., Ernst, P., Lemière, C., Martin, J.G., Hamid, Q., McKillop, W. M., Dekaban, G. A., Nguyen, Alana, Beland, Melanie, Gaitan, Yaned, Bouchard, Maxime, Behrmann, Jason, Williams-Jones, Bryn, Hakonarson, Hakon, Grant, Struan F.A., Bradfield, Jonathan P., Marchand, Luc, Kim, Cecilia E., Glessner, Joseph T., Grabs, Rosemarie, Casalunovo, Tracy, Taback, Shayne P., Frackelton, Edward C., Lawson, Margaret L., Robinson, Luke J., Capasso, Mario, Skraban, Robert, Lu, Yang, Chiavacci, Rosetta M., Stanley, Charles A., Kirsch, Susan E., Monos, Dimitri S., Devoto, Marcella, Qu, Hui-Qi, Polychronakos, Constantin, Proulx, Dominic Paquin, Lemieux, Réal, Bazin, Renée, Richard, Nathalie, Tseu, Irene, Post, Martin, Radina, M, Penner, MJ, Smith, RG, Samdup, D, Sebak, Safaa, Mirzaei, Maryam, Malhotra, Meenakshi, Kulamarva, Arun, Prakash, Satya, Tzankov, S., Bhangoo, M. K., Fan, A.C.Y., Young, J.C., Arulanandam, Rozanne, Cao, Jun, Vultur, Adina, Degeer, Jonathan, Larue, Lionel, Feracci, Hélène, Raptis, Leda, Vi, Linda, Gan, Bing Siang, O’gorman, David, Shao, W., and Saleh, M.

Subjects
cell division, implant osseo-integration, caspase-3, Bisphenol-A, heterokaryons, Ghana, Hsp70, stress, VAB-1 Eph Receptor, bone regeneration, protein folding, Rho GTPases, antibodies, implantation, adherence, oncogenic signaling, Hsc70s, polyploidy, genomic integrity, topoisomerase, fertility, shuttling, airway smooth muscle cells, Calcineurin, ADAM12, apoptosis, tyrosine kinase, cell signalling, CnABP, single-nucleotide polymorphism, developmental delay, Type 1 diabetes, cell-cell adhesion, tissue engineering, protein tyrosine phosphatase-1B, confluence, C. elegans, CSLSR Abstracts, pregnancy, interleukin 33, stretch, estrogens, RAS activation, tumour suppressor, antiretroviral therapy, DNA repair, autism, Hsp90, Dupuytren’s Disease, DAF-18/PTEN, Wilms’ tumor, intersferon-gamma, idiopathic toe walking, Hsc70, cytochrome C, megakaryocytes, metastasis, ADHD, chaperones, IGF, nucleoli, nucleolar targeting, epigenetics, uterus, Pax2, Stat3, nucleus, HIV, Krobo, illness narrative, demethylation, asthma, osteoporosis, bronchial biopsies, hematopoiesis, spermiogenesis, T cell protein tyrosine phosphatase, cadherin, blood platelet production, inflammation, genome-wide association, Abstracts from CSLSR, chromatin, accumulation, mitochondrial import
Published
2007

23. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

Author

TN groep Adan, Brain, Circulatory Health, Translational Neuroscience, Genetica Groep Koeleman, Child Health, Onderzoek, Pathologie, AIOS Psychiatrie, Li, Dong, Chang, Xiao, Connolly, John J., Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J., Robinson, Nora, Abrams, Debra, Li, Yun R., Bradfield, Jonathan P., Kim, Cecilia E., Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D., Thomas, Kelly A., Chiavacci, Rosetta M., Cone, Roger, Li, Bingshan, Sleiman, Patrick A., Hakonarson, Hakon, Perica, Vesna Boraska, Franklin, Christopher S., Floyd, James A.B., Thornton, Laura M., Huckins, Laura M., Southam, Lorraine, Rayner, William N, Tachmazidou, Ioanna, Schmidt, Ulrike, Tozzi, Federica, Kiezebrink, Kirsty, Hebebrand, Johannes, Gorwood, Philip, Adan, Roger A.H., Kas, Martien J.H., Favaro, Angela, Santonastaso, Paolo, Fernánde-Aranda, Fernando, Gratacos, Monica, Rybakowski, Filip, Dmitrzak-Weglarz, Monika, Kaprio, Jaakko, Keski-Rahkonen, Anna, Raevuori-Helkamaa, Anu, Furth, Eric F.Van, Slof-Opt Landt, Margarita C.T., Hudson, James I., Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy S., Monteleone, Palmiero, Karwautz, Andreas, Berrettini, Wade H., Schork, Nicholas J., Ando, Tetsuya, Inoko, Hidetoshi, Esko, Toñu, Fischer, Krista, Männik, Katrin, Metspalu, Andres, Baker, Jessica H., DeSocio, Janiece E., Hilliard, Christopher E., O'Toole, Julie K., Pantel, Jacques, Szatkiewicz, Jin P., Zerwas, Stephanie, Davis, Oliver S P, Helder, Sietske, Bühren, Katharina, Burghardt, Roland, De Zwaan, Martina, Egberts, Karin, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Imgart, Hartmut, Scherag, André, Zipfel, Stephan, Boni, Claudette, Ramoz, Nicolas, Versini, Audrey, Danner, Unna N., Hendriks, Judith, Koeleman, Bobby P.C., Ophoff, Roel A., Strengman, Eric, van Elburg, Annemarie A., Bruson, Alice, Clementi, Maurizio, Degortes, Daniela, Forzan, Monica, Tenconi, Elena, Docampo, Elisa, Escaramís, Geòrgia, Jiménez-Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P. Eline, Tortorella, Alfonso, Maj, Mario, Dedoussis, George, DIkeos, DImitris, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Tsitsika, Artemis, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L., Levitan, Robert D., Yilmaz, Zeynep, Huemer, Julia, Koubek, Doris, Merl, Elisabeth, Wagner, Gudrun, Lichtenstein, Paul, Breen, Gerome, Cohen-Woods, Sarah, Farmer, Anne, McGuffin, Peter, Cichon, Sven, Giegling, Ina, Herms, Stefan, Rujescu, Dan, Schreiber, Stefan, Wichmann, H-Erich, Dina, Christian, Sladek, Rob, Gambaro, Giovanni, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, DIck, Danielle M., Palotie, Aarno, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri J, Reinvang, Ivar, Steen, Vidar M., Le Hellard, Stephanie, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Scherer, Stephen W., Aschauer, Harald, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Padyukov, Leonid, Finan, Chris, Kalsi, Gursharan, Roberts, Marion, Barrett, Jeff C., Estivill, Xavier, Hinney, Anke, Sullivan, Patrick F, Zeggini, Eleftheria, Bulik, Cynthia M., Brandt, Harry, Crawford, Steve, Crow, Scott, Fichter, Manfred M., Halmi, Katherine A., Johnson, Craig, Kaplan, Allan S., La Via, Maria C., Mitchell, James R., Strober, Michael, Rotondo, Alessandro, Treasure, Janet, Woodside, D. Blake, Keel, Pamela K., Klump, Kelly L., Lilenfeld, Lisa, Bergen, Andrew W., Kaye, Walter, Magistretti, Pierre, TN groep Adan, Brain, Circulatory Health, Translational Neuroscience, Genetica Groep Koeleman, Child Health, Onderzoek, Pathologie, AIOS Psychiatrie, Li, Dong, Chang, Xiao, Connolly, John J., Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J., Robinson, Nora, Abrams, Debra, Li, Yun R., Bradfield, Jonathan P., Kim, Cecilia E., Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D., Thomas, Kelly A., Chiavacci, Rosetta M., Cone, Roger, Li, Bingshan, Sleiman, Patrick A., Hakonarson, Hakon, Perica, Vesna Boraska, Franklin, Christopher S., Floyd, James A.B., Thornton, Laura M., Huckins, Laura M., Southam, Lorraine, Rayner, William N, Tachmazidou, Ioanna, Schmidt, Ulrike, Tozzi, Federica, Kiezebrink, Kirsty, Hebebrand, Johannes, Gorwood, Philip, Adan, Roger A.H., Kas, Martien J.H., Favaro, Angela, Santonastaso, Paolo, Fernánde-Aranda, Fernando, Gratacos, Monica, Rybakowski, Filip, Dmitrzak-Weglarz, Monika, Kaprio, Jaakko, Keski-Rahkonen, Anna, Raevuori-Helkamaa, Anu, Furth, Eric F.Van, Slof-Opt Landt, Margarita C.T., Hudson, James I., Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy S., Monteleone, Palmiero, Karwautz, Andreas, Berrettini, Wade H., Schork, Nicholas J., Ando, Tetsuya, Inoko, Hidetoshi, Esko, Toñu, Fischer, Krista, Männik, Katrin, Metspalu, Andres, Baker, Jessica H., DeSocio, Janiece E., Hilliard, Christopher E., O'Toole, Julie K., Pantel, Jacques, Szatkiewicz, Jin P., Zerwas, Stephanie, Davis, Oliver S P, Helder, Sietske, Bühren, Katharina, Burghardt, Roland, De Zwaan, Martina, Egberts, Karin, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Imgart, Hartmut, Scherag, André, Zipfel, Stephan, Boni, Claudette, Ramoz, Nicolas, Versini, Audrey, Danner, Unna N., Hendriks, Judith, Koeleman, Bobby P.C., Ophoff, Roel A., Strengman, Eric, van Elburg, Annemarie A., Bruson, Alice, Clementi, Maurizio, Degortes, Daniela, Forzan, Monica, Tenconi, Elena, Docampo, Elisa, Escaramís, Geòrgia, Jiménez-Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P. Eline, Tortorella, Alfonso, Maj, Mario, Dedoussis, George, DIkeos, DImitris, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Tsitsika, Artemis, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L., Levitan, Robert D., Yilmaz, Zeynep, Huemer, Julia, Koubek, Doris, Merl, Elisabeth, Wagner, Gudrun, Lichtenstein, Paul, Breen, Gerome, Cohen-Woods, Sarah, Farmer, Anne, McGuffin, Peter, Cichon, Sven, Giegling, Ina, Herms, Stefan, Rujescu, Dan, Schreiber, Stefan, Wichmann, H-Erich, Dina, Christian, Sladek, Rob, Gambaro, Giovanni, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, DIck, Danielle M., Palotie, Aarno, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri J, Reinvang, Ivar, Steen, Vidar M., Le Hellard, Stephanie, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Scherer, Stephen W., Aschauer, Harald, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Padyukov, Leonid, Finan, Chris, Kalsi, Gursharan, Roberts, Marion, Barrett, Jeff C., Estivill, Xavier, Hinney, Anke, Sullivan, Patrick F, Zeggini, Eleftheria, Bulik, Cynthia M., Brandt, Harry, Crawford, Steve, Crow, Scott, Fichter, Manfred M., Halmi, Katherine A., Johnson, Craig, Kaplan, Allan S., La Via, Maria C., Mitchell, James R., Strober, Michael, Rotondo, Alessandro, Treasure, Janet, Woodside, D. Blake, Keel, Pamela K., Klump, Kelly L., Lilenfeld, Lisa, Bergen, Andrew W., Kaye, Walter, and Magistretti, Pierre

Published
2017

24. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

Author

Shaikh, Tamim H., Xiaowu Gai, Perin, Juan C., Glessner, Joseph T., Hongbo Xie, Murphy, Kevin, O'Hara, Ryan, Casalunovo, Tracy, Conlin, Laura K., D'Arcy, Monica, Frackelton, Edward C., Geiger, Elizabeth A., Haldeman-Englert, Chad, Imielinski, Marcin, Kim, Cecilia E., Medne, Livija, Annaiah, Kiran, Bradfield, Jonathan P., Dabaghyan, Elvira, Eckert, Andrew, Onyiah, Chioma C., Ostapenko, Svetlana, Otieno, F. George, Santa, Erin, Shaner, Julie L., Skraban, Robert, Smith, Ryan M., Elia, Josephine, Goldmuntz, Elizabeth, Spinner, Nancy B., Zackai, Elaine H., Chiavacci, Rosetta M., Grundmeier, Robert, Rappaport, Eric F., Grant, Struan F.A., White, Peter S., and Hakonarson, Hakon

Subjects
African Americans -- Genetic aspects, DNA microarrays -- Usage, High resolution spectroscopy -- Analysis, Human genome -- Research, Whites -- Genetic aspects, Health
Published
2009

25. Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

Author

Cardinale, Christopher J., primary, Li, Dong, additional, Tian, Lifeng, additional, Connolly, John J., additional, March, Michael E., additional, Hou, Cuiping, additional, Wang, Fengxiang, additional, Snyder, James, additional, Kim, Cecilia E., additional, Chiavacci, Rosetta M., additional, Sleiman, Patrick M., additional, Burnham, Jon M., additional, and Hakonarson, Hakon, additional

Published
2016
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26. Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism

Author

Wang, Yanping, primary, Li, Jin, additional, Kolon, Thomas F., additional, Olivant Fisher, Alicia, additional, Figueroa, T. Ernesto, additional, BaniHani, Ahmad H., additional, Hagerty, Jennifer A., additional, Gonzalez, Ricardo, additional, Noh, Paul H., additional, Chiavacci, Rosetta M., additional, Harden, Kisha R., additional, Abrams, Debra J., additional, Stabley, Deborah, additional, Kim, Cecilia E., additional, Sol-Church, Katia, additional, Hakonarson, Hakon, additional, Devoto, Marcella, additional, and Barthold, Julia Spencer, additional

Published
2016
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27. Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

Author

Finkel, Terri H., primary, Li, Jin, additional, Wei, Zhi, additional, Wang, Wei, additional, Zhang, Haitao, additional, Behrens, Edward M., additional, Reuschel, Emma L., additional, Limou, Sophie, additional, Wise, Carol, additional, Punaro, Marilynn, additional, Becker, Mara L., additional, Munro, Jane E., additional, Flatø, Berit, additional, Førre, Øystein, additional, Thompson, Susan D., additional, Langefeld, Carl D., additional, Glass, David N., additional, Glessner, Joseph T., additional, Kim, Cecilia E., additional, Frackelton, Edward, additional, Shivers, Debra K., additional, Thomas, Kelly A., additional, Chiavacci, Rosetta M., additional, Hou, Cuiping, additional, Xu, Kexiang, additional, Snyder, James, additional, Qiu, Haijun, additional, Mentch, Frank, additional, Wang, Kai, additional, Winkler, Cheryl A., additional, Lie, Benedicte A., additional, Ellis, Justine A., additional, and Hakonarson, Hakon, additional

Published
2016
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28. Examination of genetic variants influencing lipid traits in pediatric populations

Author

Wang, Kai, Zhang, Haitao, Mentch, Frank D., Bradfield, Jonathan P., Glessner, Joseph T., Qiu, Haijun, Guo, Yiran, Hou, Cuiping, Frackelton, Edward C., Thomas, Kelly, Bender, Amber, Albano, Anthony, Otieno, George, Garris, Maria, Seidler, Kallyn, Moy, Alexander, Kim, Cecilia E., Keating, Brendan, Chiavacci, Rosetta M., Grundmeier, Robert, Sleiman, Patrick A., Grant, Struan F.A., and Hakonarson, Hakon

Subjects
lipids (amino acids, peptides, and proteins), Article
Abstract

Previous large-scale genome-wide association studies in adult populations have implicated ∽100 loci in determining high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol, or triglyceride levels. However, whether these loci also contribute to variations of lipid traits in pediatric populations remain unknown. Here we assayed a population of Philadelphia children by high-density single nucleotide polymorphism arrays, and performed association analysis on lipid traits ascertained from lipid measurements stored in electronic medical records. We examined previously reported lipid trait associations, and found that most of them show identical direction of association in our pediatric cohorts, including genome-wide significant association on cholesteryl ester transfer protein with HDL-C levels (rs3764261, P = 2.1 × 10(-8)) and other significant associations on oxysterol-binding protein-like protein 7, low-density lipoprotein receptor-related protein 4 and low-density lipoprotein receptor-related protein 1. Additionally, we identified suggestive association on low-density lipoprotein receptor-related protein 1B with HDL-C levels (rs17736712, P = 2.1 × 10(-7)), but this signal is not supported by previous meta-analysis on adult cohorts. Finally, we examined rare copy number variants and identified deletions encompassing tetratricopeptide repeat domain 39B in two children with extreme lipid measures. Our results highlight the commonalities and differences of genetic components in determining lipid traits in pediatric versus adult populations. Furthermore, our study demonstrates the unique utility of automated information retrieval from electronic medical records in facilitating the identification of genotype-phenotype associations.

Published
2012

29. Common variants at 12q15 and 12q24 are associated with infant head circumference

Author

Taal, H Rob, Pourcain, Beate St, Geller, Frank, Davis, Oliver S P, Elliott, Paul, Evans, David M, Feenstra, Bjarke, Flexeder, Claudia, Frayling, Tim, Freathy, Rachel M, Gaillard, Romy, Groen-Blokhuis, Maria, Guxens, Mònica, Goh, Liang-Kee, Haworth, Claire M A, Hadley, Dexter, Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N, Holloway, John W, Holst, Claus, Hottenga, Jouke Jan, Cousminer, Diana L, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Iñiguez, Carmen, Kaakinen, Marika, Kilpeläinen, Tuomas O, Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A, Kerkhof, Marjan, Lawlor, Debbie A, Lehtimäki, Terho, Lewin, Alex, Lindgren, Cecilia, Lindi, Virpi, Maggi, Reedik, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Mook-Kanamori, Dennis O, Timpson, Nicholas J, Murray, Jeffrey C, Nivard, Michel, Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, O'Reilly, Paul F, Palmer, Lyle J, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Prokopenko, Inga, Ikram, M Arfan, Rodriguez, Alina, Salem, Rany M, Sebert, Sylvain, Siitonen, Niina, Sovio, Ulla, St Pourcain, Beate, Strachan, David P, Sunyer, Jordi, Teo, Yik-Ying, Beilin, Lawrence J, Thiering, Elisabeth, Tiesler, Carla, Uitterlinden, Andre G, Valcárcel, Beatriz, Warrington, Nicole M, White, Scott, Willemsen, Gonneke, Yaghootkar, Hanieh, Zeggini, Eleftheria, Boomsma, Dorret I, Bønnelykke, Klaus, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Grant, Struan F A, Hakonarson, Hakon, Hattersley, Andrew T, Heinrich, Joachim, Hocher, Berthold, Jaddoe, Vincent W V, Jarvelin, Marjo-Riitta, Buxton, Jessica L, Lakka, Timo A, McCarthy, Mark I, Melbye, Mads, Mohlke, Karen L, Dedoussis, George V, Ong, Ken K, Pearson, Ewan R, Pennell, Craig E, Price, Thomas S, Power, Chris, Charoen, Pimphen, Raitakari, Olli T, Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I A, Widen, Elisabeth, Wilson, James F, Ang, Wei, van Beijsterveldt, Toos, Chawes, Bo Lund Krogsgaard, Bergen, Nienke, Benke, Kelly, Berry, Diane, Bradfield, Jonathan P, Coin, Lachlan, Das, Shikta, Eriksson, Johan, Hofman, Albert, Standl, Marie, Kemp, John P, Kim, Cecilia E, Klopp, Norman, Fornage, Myriam, Smith, Albert V, Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A, Ropele, Stefan, Sigurdsson, Sigurdur, Lahti, Jari, Coker, Laura H, Longstreth, W. T., Niessen, Wiro J, DeStefano, Anita L, Beiser, Alexa, Zijdenbos, Alex P, Struchalin, Maksim, Jack, Clifford R, Nalls, Mike A, Au, Rhoda, Lye, Stephen J, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B, Meeks, William M, Vernooij, Meike W, van Buchem, Mark A, Catellier, Diane, Gudnason, Vilmundur, Windham, B Gwen, McMahon, George, Wolf, Philip A, van Duijn, Cornelia M, Mosley, Thomas H, Schmidt, Helena, Launer, Lenore J, Breteler, Monique M B, DeCarli, Charles, Mentch, Frank D, Müller, Martina, Rivadeneira, Fernando, Steegers, Eric A P, Epidemiology, Cohorts for Heart and Aging Research in Genetic, Debette, Stephanie, Epidemiology, Early Genetics & Lifecourse, Blakemore, Alexandra If, Chiavacci, Rosetta M, Fernandez-Benet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J, Lathrop, Mark, McArdle, Wendy L, Mølgaard, Anne, Newnham, John P, Palotie, Aarno, Pouta, Annneli, Ring, Susan M, Kreiner-Møller, Eskil, Wichmann, H-Erich, Vissing, Nadja Hawwa, Koppelman, Gerard H, Bisgaard, Hans, Smith, George Davey, Genetics, Early Growth, Adair, Linda S, Atalay, Mustafa, Faculteit Medische Wetenschappen/UMCG, Groningen Research Institute for Asthma and COPD (GRIAC), Biological Psychology, Neuroscience Campus Amsterdam - Brain Imaging, EMGO+ - Mental Health, Epidemiology, Erasmus MC other, Internal Medicine, Obstetrics & Gynecology, Radiology & Nuclear Medicine, Pediatrics, Early Genetics & Lifecourse Epidemiology (EAGLE) Consortium, Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium, Early Growth Genetics (EGG) Consortium, Taal, H Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Jaddo, Vincent WV, and Hypponen, Elina

Subjects
Embaràs -- Complicacions, Netherlands Twin Register (NTR), Male, Medizin, pathology [Head], Physiology, PROTEIN, Genome-wide association study, INTELLIGENCE, Bioinformatics, 0302 clinical medicine, PARKINSONS-DISEASE, Polymorphism (computer science), Pregnancy, infant head circumference, chromosome 12q24, Cap -- Malalties, health care economics and organizations, Cap -- Creixement, 0303 health sciences, 3. Good health, genetics [European Continental Ancestry Group], genetics [Chromosomes, Human, Pair 12], genetics [Polymorphism, Single Nucleotide], Medical genetics, Female, chromosome 12q15, BRAIN-DEVELOPMENT, Genetic Markers, medicine.medical_specialty, DISORDERS, Single-nucleotide polymorphism, Biology, etiology [Pregnancy Complications], Polymorphism, Single Nucleotide, White People, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Meta-Analysis as Topic, ddc:570, Genetics, medicine, Humans, GENOME-WIDE ASSOCIATION, Institut für Biochemie und Biologie, 030304 developmental biology, Genetic association, Cromosomes humans, pathology [Pregnancy Complications], Chromosomes, Human, Pair 12, IDENTIFICATION, growth & development [Head], MUTATIONS, Polimorfisme genètic, Chromosome, Infant, ta3121, medicine.disease, brain growth, GENE, Pregnancy Complications, Genetic marker, Genetic Loci, FETAL-GROWTH, Head, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 × 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 × 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height, their effects on infant head circumference were largely independent of height (P = 3.8 × 10(-7) for rs7980687 and P = 1.3 × 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 × 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume, Parkinson's disease and other neurodegenerative diseases, indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life. Major funding for the research in this paper is as follows: Academy of Finland (project grants 104781, 120315, 129269, 1114194 and Center of Excellence in Complex Disease Genetics); Canadian Institutes of Health Research (grant MOP 82893); The European Community’s Seventh Framework Programme (FP7/2007-2013), ENGAGE project, grant agreement HEALTH-F4-2007-201413; Instituto de Salud Carlos III (FIS PI081151, and PS09/00432); Medical Research Council UK (G0500539, G0600331, PrevMetSyn/Salve/MRC, G0600705); National Health and Medical Research Council of Australia (ID 403981 and ID 003209); Netherlands Organisation for Scientific Research (NOW)/Netherlands Organisation for Health Reseacrh and Development (ZonMw) (grants SPI 56-464-14192, 904-61-090, 904-61-193, 480-04-004, 400-05-717); NHLBI (grant 5R01HL087679-02 through the STAMPEED program (1RL1MH083268-01)); NIH (grant 1R01HD056465-01A1); University of Leipzig; Wellcome Trust (project grant GR069224); Western Australian DNA Bank; Western Australian Genetic Epidemiology Resource; ZonMW (grant 21000074). Personal funding is as follows: H.R.T by the Dutch Kidney Foundation (C08.2251) , S.D. by the Medical Research Council UK (G0500539, PrevMetSyn, and PS0476), R.M.F by a Sir Henry Wellcome Postdoctoral Fellowship (Wellcome Trust grant: 085541/Z/08/Z), D.M.E. by a Medical Research Council New Investigator Award (MRC G0800582 to D.M.E.), J.P.K. by a Wellcome Trust 4-year PhD studentship (WT083431MA), I.P. and J.F.B. in part supported by the European Community’s ENGAGE grant HEALTH-F4-2007-201413. A.T.H. is employed as a core member of the Peninsula NIHR Clinical Research Facility, V.W.V.J by the Netherlands Organization for Health Research (ZonMw 90700303, 916.10159)

Published
2012
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30. Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

Author

Li, Yun R, Zhao, Sihai D, Li, Jin, Bradfield, Jonathan P, Mohebnasab, Maede, Steel, Laura, Kobie, Julie, Abrams, Debra J, Mentch, Frank D, Glessner, Joseph T, Guo, Yiran, Wei, Zhi, Connolly, John J, Cardinale, Christopher J, Bakay, Marina, Li, Dong, Maggadottir, S Melkorka, Thomas, Kelly A, Qui, Haijun, Chiavacci, Rosetta M, Kim, Cecilia E, Wang, Fengxiang, Snyder, James, Flatø, Berit, Førre, Øystein, Denson, Lee A, Thompson, Susan D, Becker, Mara L, Guthery, Stephen L, Latiano, Anna, Perez, Elena, Resnick, Elena, Strisciuglio, Caterina, Staiano, Annamaria, Miele, Erasmo, Silverberg, Mark S, Lie, Benedicte A, Punaro, Marilynn, Russell, Richard K, Wilson, David C, Dubinsky, Marla C, Monos, Dimitri S, Annese, Vito, Munro, Jane E, Wise, Carol, Chapel, Helen, Cunningham-Rundles, Charlotte, Orange, Jordan S, Behrens, Edward M, Sullivan, Kathleen E, Kugathasan, Subra, Griffiths, Anne M, Satsangi, Jack, Grant, Struan FA, Sleiman, Patrick MA, Finkel, Terri H, Polychronakos, Constantin, Baldassano, Robert N, Luning Prak, Eline T, Ellis, Justine A, Li, Hongzhe, Keating, Brendan J, Hakonarson, Hakon, Li, Yun R, Zhao, Sihai D, Li, Jin, Bradfield, Jonathan P, Mohebnasab, Maede, Steel, Laura, Kobie, Julie, Abrams, Debra J, Mentch, Frank D, Glessner, Joseph T, Guo, Yiran, Wei, Zhi, Connolly, John J, Cardinale, Christopher J, Bakay, Marina, Li, Dong, Maggadottir, S Melkorka, Thomas, Kelly A, Qui, Haijun, Chiavacci, Rosetta M, Kim, Cecilia E, Wang, Fengxiang, Snyder, James, Flatø, Berit, Førre, Øystein, Denson, Lee A, Thompson, Susan D, Becker, Mara L, Guthery, Stephen L, Latiano, Anna, Perez, Elena, Resnick, Elena, Strisciuglio, Caterina, Staiano, Annamaria, Miele, Erasmo, Silverberg, Mark S, Lie, Benedicte A, Punaro, Marilynn, Russell, Richard K, Wilson, David C, Dubinsky, Marla C, Monos, Dimitri S, Annese, Vito, Munro, Jane E, Wise, Carol, Chapel, Helen, Cunningham-Rundles, Charlotte, Orange, Jordan S, Behrens, Edward M, Sullivan, Kathleen E, Kugathasan, Subra, Griffiths, Anne M, Satsangi, Jack, Grant, Struan FA, Sleiman, Patrick MA, Finkel, Terri H, Polychronakos, Constantin, Baldassano, Robert N, Luning Prak, Eline T, Ellis, Justine A, Li, Hongzhe, Keating, Brendan J, and Hakonarson, Hakon

Abstract

Autoimmune diseases (AIDs) are polygenic diseases affecting 7-10% of the population in the Western Hemisphere with few effective therapies. Here, we quantify the heritability of paediatric AIDs (pAIDs), including JIA, SLE, CEL, T1D, UC, CD, PS, SPA and CVID, attributable to common genomic variations (SNP-h(2)). SNP-h(2) estimates are most significant for T1D (0.863±s.e. 0.07) and JIA (0.727±s.e. 0.037), more modest for UC (0.386±s.e. 0.04) and CD (0.454±0.025), largely consistent with population estimates and are generally greater than that previously reported by adult GWAS. On pairwise analysis, we observed that the diseases UC-CD (0.69±s.e. 0.07) and JIA-CVID (0.343±s.e. 0.13) are the most strongly correlated. Variations across the MHC strongly contribute to SNP-h(2) in T1D and JIA, but does not significantly contribute to the pairwise rG. Together, our results partition contributions of shared versus disease-specific genomic variations to pAID heritability, identifying pAIDs with unexpected risk sharing, while recapitulating known associations between autoimmune diseases previously reported in adult cohorts.

Published
2015

31. Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Author

Li, Yun R., primary, Zhao, Sihai D., additional, Li, Jin, additional, Bradfield, Jonathan P., additional, Mohebnasab, Maede, additional, Steel, Laura, additional, Kobie, Julie, additional, Abrams, Debra J., additional, Mentch, Frank D., additional, Glessner, Joseph T., additional, Guo, Yiran, additional, Wei, Zhi, additional, Connolly, John J., additional, Cardinale, Christopher J., additional, Bakay, Marina, additional, Li, Dong, additional, Maggadottir, S. Melkorka, additional, Thomas, Kelly A., additional, Qui, Haijun, additional, Chiavacci, Rosetta M., additional, Kim, Cecilia E., additional, Wang, Fengxiang, additional, Snyder, James, additional, Flatø, Berit, additional, Førre, Øystein, additional, Denson, Lee A., additional, Thompson, Susan D., additional, Becker, Mara L., additional, Guthery, Stephen L., additional, Latiano, Anna, additional, Perez, Elena, additional, Resnick, Elena, additional, Strisciuglio, Caterina, additional, Staiano, Annamaria, additional, Miele, Erasmo, additional, Silverberg, Mark S., additional, Lie, Benedicte A., additional, Punaro, Marilynn, additional, Russell, Richard K., additional, Wilson, David C., additional, Dubinsky, Marla C., additional, Monos, Dimitri S., additional, Annese, Vito, additional, Munro, Jane E., additional, Wise, Carol, additional, Chapel, Helen, additional, Cunningham-Rundles, Charlotte, additional, Orange, Jordan S., additional, Behrens, Edward M., additional, Sullivan, Kathleen E., additional, Kugathasan, Subra, additional, Griffiths, Anne M., additional, Satsangi, Jack, additional, Grant, Struan F. A., additional, Sleiman, Patrick M. A., additional, Finkel, Terri H., additional, Polychronakos, Constantin, additional, Baldassano, Robert N., additional, Luning Prak, Eline T., additional, Ellis, Justine A., additional, Li, Hongzhe, additional, Keating, Brendan J., additional, and Hakonarson, Hakon, additional

Published
2015
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32. Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

Author

Li, Yun R, primary, Li, Jin, additional, Zhao, Sihai D, additional, Bradfield, Jonathan P, additional, Mentch, Frank D, additional, Maggadottir, S Melkorka, additional, Hou, Cuiping, additional, Abrams, Debra J, additional, Chang, Diana, additional, Gao, Feng, additional, Guo, Yiran, additional, Wei, Zhi, additional, Connolly, John J, additional, Cardinale, Christopher J, additional, Bakay, Marina, additional, Glessner, Joseph T, additional, Li, Dong, additional, Kao, Charlly, additional, Thomas, Kelly A, additional, Qiu, Haijun, additional, Chiavacci, Rosetta M, additional, Kim, Cecilia E, additional, Wang, Fengxiang, additional, Snyder, James, additional, Richie, Marylyn D, additional, Flatø, Berit, additional, Førre, Øystein, additional, Denson, Lee A, additional, Thompson, Susan D, additional, Becker, Mara L, additional, Guthery, Stephen L, additional, Latiano, Anna, additional, Perez, Elena, additional, Resnick, Elena, additional, Russell, Richard K, additional, Wilson, David C, additional, Silverberg, Mark S, additional, Annese, Vito, additional, Lie, Benedicte A, additional, Punaro, Marilynn, additional, Dubinsky, Marla C, additional, Monos, Dimitri S, additional, Strisciuglio, Caterina, additional, Staiano, Annamaria, additional, Miele, Erasmo, additional, Kugathasan, Subra, additional, Ellis, Justine A, additional, Munro, Jane E, additional, Sullivan, Kathleen E, additional, Wise, Carol A, additional, Chapel, Helen, additional, Cunningham-Rundles, Charlotte, additional, Grant, Struan F A, additional, Orange, Jordan S, additional, Sleiman, Patrick M A, additional, Behrens, Edward M, additional, Griffiths, Anne M, additional, Satsangi, Jack, additional, Finkel, Terri H, additional, Keinan, Alon, additional, Prak, Eline T Luning, additional, Polychronakos, Constantin, additional, Baldassano, Robert N, additional, Li, Hongzhe, additional, Keating, Brendan J, additional, and Hakonarson, Hakon, additional

Published
2015
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33. Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Author

Li, Jin, primary, Fung, Irene, additional, Glessner, Joseph T., additional, Pandey, Rahul, additional, Wei, Zhi, additional, Bakay, Marina, additional, Mentch, Frank D., additional, Pellegrino, Renata, additional, Wang, Tiancheng, additional, Kim, Cecilia, additional, Hou, Cuiping, additional, Wang, Fengxiang, additional, Chiavacci, Rosetta M., additional, Thomas, Kelly A., additional, Spergel, Jonathan M., additional, Hakonarson, Hakon, additional, and Sleiman, Patrick M. A., additional

Published
2015
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34. Mutations inSPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Author

Kruszka, Paul, primary, Li, Dong, additional, Harr, Margaret H, additional, Wilson, Nathan R, additional, Swarr, Daniel, additional, McCormick, Elizabeth M, additional, Chiavacci, Rosetta M, additional, Li, Mindy, additional, Martinez, Ariel F, additional, Hart, Rachel A, additional, McDonald-McGinn, Donna M, additional, Deardorff, Matthew A, additional, Falk, Marni J, additional, Allanson, Judith E, additional, Hudson, Cindy, additional, Johnson, John P, additional, Saadi, Irfan, additional, Hakonarson, Hakon, additional, Muenke, Maximilian, additional, and Zackai, Elaine H, additional

Published
2014
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35. Common variants at 12q15 and 12q24 are associated with infant head circumference

Author

Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Moller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Monica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bonnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Mueller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Breteler, Monique M. B., Debette, Stephanie, Fornage, Myriam, Gudnason, Vilmundur, Launer, Lenore J., van der Lugt, Aad, Mosley, Thomas H., Jr., Seshadri, Sudha, Smith, Albert V., Vernooij, Meike W., Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Grant, Struan F. A., Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iniguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Molgaard, Anne, Newnham, John P., Palmer, Lyle J., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Standl, Marie, Uitterlinden, Andre G., Wichmann, H-Erich, Vissing, Nadja Hawwa, DeCarli, Charles, van Duijn, Cornelia M., McCarthy, Mark I., Koppelman, Gerard H., Estivill, Xavier, Hattersley, Andrew T., Melbye, Mads, Bisgaard, Hans, Pennell, Craig E., Widen, Elisabeth, Hakonarson, Hakon, Smith, George Davey, Heinrich, Joachim, Jarvelin, Marjo-Riitta, Jaddoe, Vincent W. V., Adair, Linda S., Ang, Wei, Atalay, Mustafa, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Davis, Oliver S. P., Elliott, Paul, Flexeder, Claudia, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Goh, Liang-Kee, Haworth, Claire M. A., Hadley, Dexter, Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Hottenga, Jouke Jan, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Kilpelainen, Tuomas O., Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A., Lawlor, Debbie A., Lehtimaki, Terho, Lewin, Alex, Lindgren, Cecilia, Lindi, Virpi, Maggi, Reedik, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Murray, Jeffrey C., Nivard, Michel, Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Rodriguez, Alina, Salem, Rany M., Sebert, Sylvain, Siitonen, Niina, Strachan, David P., Teo, Yik-Ying, Valcarcel, Beatriz, White, Scott, Willemsen, Gonneke, Zeggini, Eleftheria, Boomsma, Dorret I., Cooper, Cyrus, Gillman, Matthew, Hocher, Berthold, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Power, Chris, Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sorensen, Thorkild I. A., Wilson, James F., Schmidt, Reinhold, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Jr., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Jr., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, Harris, Tamara B., Meeks, William M., van Buchem, Mark A., Catellier, Diane, Windham, B. Gwen, Wolf, Philip A., Schmidt, Helena, Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Moller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Monica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bonnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Mueller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Breteler, Monique M. B., Debette, Stephanie, Fornage, Myriam, Gudnason, Vilmundur, Launer, Lenore J., van der Lugt, Aad, Mosley, Thomas H., Jr., Seshadri, Sudha, Smith, Albert V., Vernooij, Meike W., Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Grant, Struan F. A., Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iniguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Molgaard, Anne, Newnham, John P., Palmer, Lyle J., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Standl, Marie, Uitterlinden, Andre G., Wichmann, H-Erich, Vissing, Nadja Hawwa, DeCarli, Charles, van Duijn, Cornelia M., McCarthy, Mark I., Koppelman, Gerard H., Estivill, Xavier, Hattersley, Andrew T., Melbye, Mads, Bisgaard, Hans, Pennell, Craig E., Widen, Elisabeth, Hakonarson, Hakon, Smith, George Davey, Heinrich, Joachim, Jarvelin, Marjo-Riitta, Jaddoe, Vincent W. V., Adair, Linda S., Ang, Wei, Atalay, Mustafa, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Davis, Oliver S. P., Elliott, Paul, Flexeder, Claudia, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Goh, Liang-Kee, Haworth, Claire M. A., Hadley, Dexter, Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Hottenga, Jouke Jan, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Kilpelainen, Tuomas O., Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A., Lawlor, Debbie A., Lehtimaki, Terho, Lewin, Alex, Lindgren, Cecilia, Lindi, Virpi, Maggi, Reedik, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Murray, Jeffrey C., Nivard, Michel, Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Rodriguez, Alina, Salem, Rany M., Sebert, Sylvain, Siitonen, Niina, Strachan, David P., Teo, Yik-Ying, Valcarcel, Beatriz, White, Scott, Willemsen, Gonneke, Zeggini, Eleftheria, Boomsma, Dorret I., Cooper, Cyrus, Gillman, Matthew, Hocher, Berthold, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Power, Chris, Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sorensen, Thorkild I. A., Wilson, James F., Schmidt, Reinhold, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Jr., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Jr., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, Harris, Tamara B., Meeks, William M., van Buchem, Mark A., Catellier, Diane, Windham, B. Gwen, Wolf, Philip A., and Schmidt, Helena

Abstract

To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.

Published
2012
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36. Variants of DENND1B associated with asthma in children

Author

Sleiman, Patrick M A, Flory, James, Imielinski, Marcin, Bradfield, Jonathan P, Annaiah, Kiran, Willis-Owen, Saffron A G, Wang, Kai, Rafaels, Nicholas M, Michel, Sven, Bønnelykke, Klaus, Zhang, Haitao, Kim, Cecilia E, Frackelton, Edward C, Glessner, Joseph T, Hou, Cuiping, Otieno, F George, Santa, Erin, Thomas, Kelly, Smith, Ryan M, Glaberson, Wendy R, Garris, Maria, Chiavacci, Rosetta M, Beaty, Terri H, Ruczinski, Ingo, Orange, Jordan M, Allen, Julian, Spergel, Jonathan M, Grundmeier, Robert, Mathias, Rasika A, Christie, Jason D, von Mutius, Erika, Cookson, William O C, Kabesch, Michael, Moffatt, Miriam F, Grunstein, Michael M, Barnes, Kathleen C, Devoto, Marcella, Magnusson, Mark, Li, Hongzhe, Grant, Struan F A, Bisgaard, Hans, Hakonarson, Hakon, Sleiman, Patrick M A, Flory, James, Imielinski, Marcin, Bradfield, Jonathan P, Annaiah, Kiran, Willis-Owen, Saffron A G, Wang, Kai, Rafaels, Nicholas M, Michel, Sven, Bønnelykke, Klaus, Zhang, Haitao, Kim, Cecilia E, Frackelton, Edward C, Glessner, Joseph T, Hou, Cuiping, Otieno, F George, Santa, Erin, Thomas, Kelly, Smith, Ryan M, Glaberson, Wendy R, Garris, Maria, Chiavacci, Rosetta M, Beaty, Terri H, Ruczinski, Ingo, Orange, Jordan M, Allen, Julian, Spergel, Jonathan M, Grundmeier, Robert, Mathias, Rasika A, Christie, Jason D, von Mutius, Erika, Cookson, William O C, Kabesch, Michael, Moffatt, Miriam F, Grunstein, Michael M, Barnes, Kathleen C, Devoto, Marcella, Magnusson, Mark, Li, Hongzhe, Grant, Struan F A, Bisgaard, Hans, and Hakonarson, Hakon

Abstract

Asthma is a complex disease that has genetic and environmental causes. The genetic factors associated with susceptibility to asthma remain largely unknown.

Published
2010

37. Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.

Author

Yanping Wang, Jin Li, Kolon, Thomas F., Fisher, Alicia Olivant, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzalez, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Stabley, Deborah, Kim, Cecilia E., Sol-Church, Katia, Hakonarson, Hakon, Devoto, Marcella, and Barthold, Julia Spencer

Subjects
CRYPTORCHISM, DNA copy number variations, GENOMICS, CAUCASIAN race, GENITOURINARY diseases, HEALTH
Abstract

Background: Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian population. Methods: Genome wide genotyping were performed in 559 cases and 1772 controls (Group 1) using Illumina HumanHap550 v1, HumanHap550 v3 or Human610-Quad platforms and in 353 cases and 1149 controls (Group 2) using the Illumina Human OmniExpress 12v1 or Human OmniExpress 12v1-1. Signal intensity data including log R ratio (LRR) and B allele frequency (BAF) for each single nucleotide polymorphism (SNP) were used for CNV detection using PennCNV software. After sample quality control, gene- and CNV-based association tests were performed using cleaned data from Group 1 (493 cases and 1586 controls) and Group 2 (307 cases and 1102 controls) using ParseCNV software. Meta-analysis was performed using gene-based test results as input to identify significant genes, and CNVs in or around significant genes were identified in CNV-based association test results. Called CNVs passing quality control and signal intensity visualization examination were considered for validation using TaqMan CNV assays and QuantStudio® 3D Digital PCR System. Results: The meta-analysis identified 373 genome wide significant (p < 5 X 10-4) genes/loci including 49 genes/loci with deletions and 324 with duplications. Among them, 17 genes with deletion and 1 gene with duplication were identified in CNV-based association results in both Group 1 and Group 2. Only 2 genes (NUCB2 and UPF2) containing deletions passed CNV quality control in both groups and signal intensity visualization examination, but laboratory validation failed to verify these deletions. Conclusions: Our data do not support that structural variation is a major cause of nonsyndromic cryptorchidism. [ABSTRACT FROM AUTHOR]

Published
2016
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38. The missense variation landscape ofFTO,MC4R,andTMEM18in obese children of African Ancestry

Author

Deliard, Sandra, primary, Panossian, Saarene, additional, Mentch, Frank D., additional, Kim, Cecilia E., additional, Hou, Cuiping, additional, Frackelton, Edward C., additional, Bradfield, Jonathan P., additional, Glessner, Joseph T., additional, Zhang, Haitao, additional, Wang, Kai, additional, Sleiman, Patrick M.A., additional, Chiavacci, Rosetta M., additional, Berkowitz, Robert I., additional, Hakonarson, Hakon, additional, Zhao, Jianhua, additional, and Grant, Struan F.A., additional

Published
2013
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39. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children

Author

Li, Jin, primary, Glessner, Joseph T., additional, Zhang, Haitao, additional, Hou, Cuiping, additional, Wei, Zhi, additional, Bradfield, Jonathan P., additional, Mentch, Frank D., additional, Guo, Yiran, additional, Kim, Cecilia, additional, Xia, Qianghua, additional, Chiavacci, Rosetta M., additional, Thomas, Kelly A., additional, Qiu, Haijun, additional, Grant, Struan F.A., additional, Furth, Susan L., additional, Hakonarson, Hakon, additional, and Sleiman, Patrick M.A., additional

Published
2012
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40. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Author

Elia, Josephine, primary, Glessner, Joseph T, additional, Wang, Kai, additional, Takahashi, Nagahide, additional, Shtir, Corina J, additional, Hadley, Dexter, additional, Sleiman, Patrick M A, additional, Zhang, Haitao, additional, Kim, Cecilia E, additional, Robison, Reid, additional, Lyon, Gholson J, additional, Flory, James H, additional, Bradfield, Jonathan P, additional, Imielinski, Marcin, additional, Hou, Cuiping, additional, Frackelton, Edward C, additional, Chiavacci, Rosetta M, additional, Sakurai, Takeshi, additional, Rabin, Cara, additional, Middleton, Frank A, additional, Thomas, Kelly A, additional, Garris, Maria, additional, Mentch, Frank, additional, Freitag, Christine M, additional, Steinhausen, Hans-Christoph, additional, Todorov, Alexandre A, additional, Reif, Andreas, additional, Rothenberger, Aribert, additional, Franke, Barbara, additional, Mick, Eric O, additional, Roeyers, Herbert, additional, Buitelaar, Jan, additional, Lesch, Klaus-Peter, additional, Banaschewski, Tobias, additional, Ebstein, Richard P, additional, Mulas, Fernando, additional, Oades, Robert D, additional, Sergeant, Joseph, additional, Sonuga-Barke, Edmund, additional, Renner, Tobias J, additional, Romanos, Marcel, additional, Romanos, Jasmin, additional, Warnke, Andreas, additional, Walitza, Susanne, additional, Meyer, Jobst, additional, Pálmason, Haukur, additional, Seitz, Christiane, additional, Loo, Sandra K, additional, Smalley, Susan L, additional, Biederman, Joseph, additional, Kent, Lindsey, additional, Asherson, Philip, additional, Anney, Richard J L, additional, Gaynor, J William, additional, Shaw, Philip, additional, Devoto, Marcella, additional, White, Peter S, additional, Grant, Struan F A, additional, Buxbaum, Joseph D, additional, Rapoport, Judith L, additional, Williams, Nigel M, additional, Nelson, Stanley F, additional, Faraone, Stephen V, additional, and Hakonarson, Hakon, additional

Published
2011
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41. Role of BMI‐Associated Loci Identified in GWAS Meta‐Analyses in the Context of Common Childhood Obesity in European Americans

Author

Zhao, Jianhua, primary, Bradfield, Jonathan P., additional, Zhang, Haitao, additional, Sleiman, Patrick M., additional, Kim, Cecilia E., additional, Glessner, Joseph T., additional, Deliard, Sandra, additional, Thomas, Kelly A., additional, Frackelton, Edward C., additional, Li, Mingyao, additional, Chiavacci, Rosetta M., additional, Berkowitz, Robert I., additional, Hakonarson, Hakon, additional, and Grant, Struan F.A., additional

Published
2011
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42. A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci

Author

Bradfield, Jonathan P., primary, Qu, Hui-Qi, additional, Wang, Kai, additional, Zhang, Haitao, additional, Sleiman, Patrick M., additional, Kim, Cecilia E., additional, Mentch, Frank D., additional, Qiu, Haijun, additional, Glessner, Joseph T., additional, Thomas, Kelly A., additional, Frackelton, Edward C., additional, Chiavacci, Rosetta M., additional, Imielinski, Marcin, additional, Monos, Dimitri S., additional, Pandey, Rahul, additional, Bakay, Marina, additional, Grant, Struan F. A., additional, Polychronakos, Constantin, additional, and Hakonarson, Hakon, additional

Published
2011
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43. BMD-Associated Variation at the Osterix Locus Is Correlated With Childhood Obesity in Females

Author

Zhao, Jianhua, primary, Bradfield, Jonathan P., additional, Li, Mingyao, additional, Zhang, Haitao, additional, Mentch, Frank D., additional, Wang, Kai, additional, Sleiman, Patrick M.A., additional, Kim, Cecilia E., additional, Glessner, Joseph T., additional, Frackelton, Edward C., additional, Chiavacci, Rosetta M., additional, Berkowitz, Robert I., additional, Zemel, Babette S., additional, Hakonarson, Hakon, additional, and Grant, Struan F.A., additional

Published
2011
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44. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

Author

Zhao, Jianhua, primary, Li, Mingyao, additional, Bradfield, Jonathan P, additional, Zhang, Haitao, additional, Mentch, Frank D, additional, Wang, Kai, additional, Sleiman, Patrick M, additional, Kim, Cecilia E, additional, Glessner, Joseph T, additional, Hou, Cuiping, additional, Keating, Brendan J, additional, Thomas, Kelly A, additional, Garris, Maria L, additional, Deliard, Sandra, additional, Frackelton, Edward C, additional, Otieno, F George, additional, Chiavacci, Rosetta M, additional, Berkowitz, Robert I, additional, Hakonarson, Hakon, additional, and Grant, Struan FA, additional

Published
2010
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45. Common variants at 5q22 associate with pediatric eosinophilic esophagitis

Author

Rothenberg, Marc E, primary, Spergel, Jonathan M, additional, Sherrill, Joseph D, additional, Annaiah, Kiran, additional, Martin, Lisa J, additional, Cianferoni, Antonella, additional, Gober, Laura, additional, Kim, Cecilia, additional, Glessner, Joseph, additional, Frackelton, Edward, additional, Thomas, Kelly, additional, Blanchard, Carine, additional, Liacouras, Chris, additional, Verma, Ritu, additional, Aceves, Seema, additional, Collins, Margaret H, additional, Brown-Whitehorn, Terri, additional, Putnam, Phil E, additional, Franciosi, James P, additional, Chiavacci, Rosetta M, additional, Grant, Struan F A, additional, Abonia, J Pablo, additional, Sleiman, Patrick M A, additional, and Hakonarson, Hakon, additional

Published
2010
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46. Variants ofDENND1BAssociated with Asthma in Children

Author

Sleiman, Patrick M.A., primary, Flory, James, additional, Imielinski, Marcin, additional, Bradfield, Jonathan P., additional, Annaiah, Kiran, additional, Willis-Owen, Saffron A.G., additional, Wang, Kai, additional, Rafaels, Nicholas M., additional, Michel, Sven, additional, Bonnelykke, Klaus, additional, Zhang, Haitao, additional, Kim, Cecilia E., additional, Frackelton, Edward C., additional, Glessner, Joseph T., additional, Hou, Cuiping, additional, Otieno, F. George, additional, Santa, Erin, additional, Thomas, Kelly, additional, Smith, Ryan M., additional, Glaberson, Wendy R., additional, Garris, Maria, additional, Chiavacci, Rosetta M., additional, Beaty, Terri H., additional, Ruczinski, Ingo, additional, Orange, Jordan S., additional, Allen, Julian, additional, Spergel, Jonathan M., additional, Grundmeier, Robert, additional, Mathias, Rasika A., additional, Christie, Jason D., additional, von Mutius, Erika, additional, Cookson, William O.C., additional, Kabesch, Michael, additional, Moffatt, Miriam F., additional, Grunstein, Michael M., additional, Barnes, Kathleen C., additional, Devoto, Marcella, additional, Magnusson, Mark, additional, Li, Hongzhe, additional, Grant, Struan F.A., additional, Bisgaard, Hans, additional, and Hakonarson, Hakon, additional

Published
2010
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47. The Role of Obesity-associated Loci Identified in Genome-wide Association Studies in the Determination of Pediatric BMI

Author

Zhao, Jianhua, primary, Bradfield, Jonathan P., additional, Li, Mingyao, additional, Wang, Kai, additional, Zhang, Haitao, additional, Kim, Cecilia E., additional, Annaiah, Kiran, additional, Glessner, Joseph T., additional, Thomas, Kelly, additional, Garris, Maria, additional, Frackelton, Edward C., additional, Otieno, F. George, additional, Shaner, Julie L., additional, Smith, Ryan M., additional, Chiavacci, Rosetta M., additional, Berkowitz, Robert I., additional, Hakonarson, Hakon, additional, and Grant, Struan F.A., additional

Published
2009
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48. Examination of All Type 2 Diabetes GWAS Loci Reveals HHEX-IDE as a Locus Influencing Pediatric BMI

Author

Zhao, Jianhua, primary, Bradfield, Jonathan P., additional, Zhang, Haitao, additional, Annaiah, Kiran, additional, Wang, Kai, additional, Kim, Cecilia E., additional, Glessner, Joseph T., additional, Frackelton, Edward C., additional, Otieno, F. George, additional, Doran, James, additional, Thomas, Kelly A., additional, Garris, Maria, additional, Hou, Cuiping, additional, Chiavacci, Rosetta M., additional, Li, Mingyao, additional, Berkowitz, Robert I., additional, Hakonarson, Hakon, additional, and Grant, Struan F.A., additional

Published
2009
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49. Investigation of the Locus Near MC4R With Childhood Obesity in Americans of European and African Ancestry

Author

Grant, Struan F.A., primary, Bradfield, Jonathan P., additional, Zhang, Haitao, additional, Wang, Kai, additional, Kim, Cecilia E., additional, Annaiah, Kiran, additional, Santa, Erin, additional, Glessner, Joseph T., additional, Thomas, Kelly, additional, Garris, Maria, additional, Frackelton, Edward C., additional, Otieno, F. George, additional, Shaner, Julie L., additional, Smith, Ryan M., additional, Imielinski, Marcin, additional, Chiavacci, Rosetta M., additional, Li, Mingyao, additional, Berkowitz, Robert I., additional, and Hakonarson, Hakon, additional

Published
2009
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50. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

Author

Kugathasan, Subra, primary, Baldassano, Robert N, additional, Bradfield, Jonathan P, additional, Sleiman, Patrick M A, additional, Imielinski, Marcin, additional, Guthery, Stephen L, additional, Cucchiara, Salvatore, additional, Kim, Cecilia E, additional, Frackelton, Edward C, additional, Annaiah, Kiran, additional, Glessner, Joseph T, additional, Santa, Erin, additional, Willson, Tara, additional, Eckert, Andrew W, additional, Bonkowski, Erin, additional, Shaner, Julie L, additional, Smith, Ryan M, additional, Otieno, F George, additional, Peterson, Nicholas, additional, Abrams, Debra J, additional, Chiavacci, Rosetta M, additional, Grundmeier, Robert, additional, Mamula, Petar, additional, Tomer, Gitit, additional, Piccoli, David A, additional, Monos, Dimitri S, additional, Annese, Vito, additional, Denson, Lee A, additional, Grant, Struan F A, additional, and Hakonarson, Hakon, additional

Published
2008
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