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2. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

Author

Lanktree, Matthew B, Guo, Yiran, Murtaza, Muhammed, Glessner, Joseph T, Bailey, Swneke D, Onland-Moret, N Charlotte, Lettre, Guillaume, Ongen, Halit, Rajagopalan, Ramakrishnan, Johnson, Toby, Shen, Haiqing, Nelson, Christopher P, Klopp, Norman, Baumert, Jens, Padmanabhan, Sandosh, Pankratz, Nathan, Pankow, James S, Shah, Sonia, Taylor, Kira, Barnard, John, Peters, Bas J, Maloney, Cliona M, Lobmeyer, Maximilian T, Stanton, Alice, Zafarmand, M Hadi, Romaine, Simon PR, Mehta, Amar, van Iperen, Erik PA, Gong, Yan, Price, Tom S, Smith, Erin N, Kim, Cecilia E, Li, Yun R, Asselbergs, Folkert W, Atwood, Larry D, Bailey, Kristian M, Bhatt, Deepak, Bauer, Florianne, Behr, Elijah R, Bhangale, Tushar, Boer, Jolanda MA, Boehm, Bernhard O, Bradfield, Jonathan P, Brown, Morris, Braund, Peter S, Burton, Paul R, Carty, Cara, Chandrupatla, Hareesh R, Chen, Wei, Connell, John, Dalgeorgou, Chrysoula, de Boer, Anthonius, Drenos, Fotios, Elbers, Clara C, Fang, James C, Fox, Caroline S, Frackelton, Edward C, Fuchs, Barry, Furlong, Clement E, Gibson, Quince, Gieger, Christian, Goel, Anuj, Grobbee, Diederik E, Hastie, Claire, Howard, Philip J, Huang, Guan-Hua, Johnson, W Craig, Li, Qing, Kleber, Marcus E, Klein, Barbara EK, Klein, Ronald, Kooperberg, Charles, Ky, Bonnie, LaCroix, Andrea, Lanken, Paul, Lathrop, Mark, Li, Mingyao, Marshall, Vanessa, Melander, Olle, Mentch, Frank D, Meyer, Nuala J, Monda, Keri L, Montpetit, Alexandre, Murugesan, Gurunathan, Nakayama, Karen, Nondahl, Dave, Onipinla, Abiodun, Rafelt, Suzanne, Newhouse, Stephen J, Otieno, F George, Patel, Sanjey R, Putt, Mary E, Rodriguez, Santiago, Safa, Radwan N, Sawyer, Douglas B, Schreiner, Pamela J, Simpson, Claire, Sivapalaratnam, Suthesh, Srinivasan, Sathanur R, and Suver, Christine

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adult, Black or African American, Asian People, Body Height, Cardiovascular System, Female, Gene Frequency, Genetic Heterogeneity, Genetic Loci, Genome-Wide Association Study, Hispanic or Latino, Humans, Interleukin-11, Male, Polymorphism, Single Nucleotide, Smad3 Protein, White People, Hugh Watkins on behalf of PROCARDIS, Meena Kumari on behalf of the Whitehall II Study and the WHII 50K Group, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114,223 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 × 10(-6)), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 × 10(-8)). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 × 10(-11)). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait.

Published
2011

3. Strong synaptic transmission impact by copy number variations in schizophrenia

Author

Glessner, Joseph T., Reilly, Muredach P., Kim, Cecilia E., Takahashi, Nagahide, Albano, Anthony, Hou, Cuiping, Bradfield, Jonathan P., Zhang, Haitao, Sleiman, Patrick M. A., Flory, James H., Imielinski, Marcin, Frackelton, Edward C., Chiavacci, Rosetta, Thomas, Kelly A., Garris, Maria, Otieno, Frederick G., Davidson, Michael, Weiser, Mark, Reichenberg, Abraham, Davis, Kenneth L., Friedman, Joseph I., Cappola, Thomas P., Margulies, Kenneth B., Rader, Daniel J., Grant, Struan F. A., Buxbaum, Joseph D., Gur, Raquel E., Hakonarson, Hakon, and Lupski, James R.

Published
2010

4. 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

5. 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

6. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Author

Wang, Kai, Cai, Guiqing, Korvatska, Olena, Kim, Cecilia E., Wood, Shawn, Zhang, Haitao, Estes, Annette, Brune, Camille W., Bradfield, Jonathan P., Imielinski, Marcin, Frackelton, Edward C., Reichert, Jennifer, Crawford, Emily L., Munson, Jeffrey, Sleiman, Patrick M.A., Chiavacci, Rosetta, Annaiah, Kiran, Thomas, Kelly, Hou, Cuiping, Glaberson, Wendy, Flory, James, Otieno, Frederick, Garris, Maria, Soorya, Latha, Klei, Lambertus, Piven, Joseph, Meyer, Kacie J., Anagnostou, Evdokia, Sakurai, Takeshi, Game, Rachel M., Rudd, Danielle S., Zurawiecki, Danielle, McDouglelo, Christopher J., Davis, Lea K., Miller, Judith, Posey, David J., Michaels, Shana, Kolevzon, Alexander, Silverman, Jeremy M., Bernier, Raphael, Levy, Susan E., Schultz, Robert T., Dawson, Geraldine, Owleys, Thomas, McMahon, William M., Wassink, Thomas H., Sweeney, John A., Nurnberger, Jr., John I., Coon, Hilary, Sutcliffe, James S., Minshew, Nancy J., Grant, Struan F.A., Bucan, Maja, Cook, Jr., Edwin H., Buxbaum, Joseph D., Devlin, Bernie D., Schellenberg, Gerard D., and Hakonarson, Hakon

Subjects
Neurons -- Properties -- Genetic aspects, Ubiquitin -- Properties -- Genetic aspects, Autism -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation, Genetic aspects, Properties
Abstract

Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins(1-4). Previous studies focusing on candidate genes or genomic regions have identified several copy number variations (CNVs) that are associated with an increased risk of ASDs(5-9). Here we present the results from a whole-genome CNV study on a cohort of 859 ASD cases and 1,409 healthy children of European ancestry who were genotyped with 550,000 single nucleotide polymorphism markers, in an attempt to comprehensively identify CNVs conferring susceptibility to ASDs. Positive findings were evaluated in an independent cohort of 1,336 ASD cases and 1,110 controls of European ancestry. Besides previously reported ASD candidate genes, such as NRXNI (ref. 10) and CNTN4 (refs 11, 12), several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGNI and ASTN2, were enriched with CNVs in ASD cases compared to controls (P = 9.5 x [10.sup.-3]). Furthermore, CNVs within or surrounding genes involved in the ubiquitin pathways, including UBE3A, PARKZ RFWD2 and FBX040, were affected by CNVs not observed in controls (P= 3.3 x [10.sup.-3]). We also identified duplications 55 kilobases upstream of complementary DNA AK123120 (P=3.6 x [10.sup.-6]). Although these variants may be individually rare, they target genes involved in neuronal cell-adhesion or ubiquitin degradation, indicating that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD., ASDs, including autism, are neurodevelopmental disorders characterized by impairments in social and communication skills, as well as stereotyped and repetitive behaviours and/or a restricted range of interests. Current prevalence estimates [...]

Published
2009

7. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma

Author

Maris, John M., Mosse, Yael P., Bradfield, Jonathan P., Monni, Stefano, Scott, Richard H., Cuiping Hou, Asgharzadeh, Shahab, Attiyeh, Edward F., Diskin, Sharon J., Laudenslager, Marci, Winter, Cynthia, Cole, Kristina A., Glessner, Joseph T., Kim, Cecelia, Frackelton, Edward C., Rappaport, Eric F., McConville, Carmel, London, Wendy B., Seeger, Robert C., Rahman, Nazneen, Devoto, Marcella, Grant, Struan F.A., Hongzhe Li, and Hakonarson, Hakon

Subjects
Chromosome abnormalities -- Research, Neuroblastoma -- Genetic aspects
Abstract

A study was conducted to investigate the relevance of the development of neuroblastoma in young children with the chromosome 6p22. Results showed that a genetic variation of 6p22 increased the chances of the development of neuroblastoma.

Published
2008

8. 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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9. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

Author

Couthouis, Julien, Hart, Michael P., Erion, Renske, King, Oliver D., Diaz, Zamia, Nakaya, Tadashi, Ibrahim, Fadia, Kim, Hyung-Jun, Mojsilovic-Petrovic, Jelena, Panossian, Saarene, Kim, Cecilia E., Frackelton, Edward C., Solski, Jennifer A., Williams, Kelly L., Clay-Falcone, Dana, Elman, Lauren, McCluskey, Leo, Greene, Robert, Hakonarson, Hakon, Kalb, Robert G., Lee, Virginia M.Y., Trojanowski, John Q., Nicholson, Garth A., Blair, Ian P., Bonini, Nancy M., Van Deerlin, Vivianna M., Mourelatos, Zissimos, Shorter, James, and Gitler, Aaron D.

Published
2012
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10. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects

Author

Wang, Kai, Baldassano, Robert, Zhang, Haitao, Qu, Hui-Qi, Imielinski, Marcin, Kugathasan, Subra, Annese, Vito, Dubinsky, Marla, Rotter, Jerome I., Russell, Richard K., Bradfield, Jonathan P., Sleiman, Patrick M.A., Glessner, Joseph T., Walters, Thomas, Hou, Cuiping, Kim, Cecilia, Frackelton, Edward C., Garris, Maria, Doran, James, Romano, Claudio, Catassi, Carlo, Van Limbergen, Johan, Guthery, Stephen L., Denson, Lee, Piccoli, David, Silverberg, Mark S., Stanley, Charles A., Monos, Dimitri, Wilson, David C., Griffiths, Anne, Grant, Struan F.A., Satsangi, Jack, Polychronakos, Constantin, and Hakonarson, Hakon

Published
2010
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12. 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. 17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry

Author

Flory, James H., Sleiman, Patrick M., Christie, Jason D., Annaiah, Kiran, Bradfield, Jonathan, Kim, Cecilia E., Glessner, Joseph, Imielinski, Marcin, Li, Hongzhe, Frackelton, Edward C., Cuiping, Hou, Otieno, George, Thomas, Kelly, Smith, Ryan, Glaberson, Wendy, Garris, Maria, Chiavacci, Rosetta, Allen, Julian, Spergel, Jonathan, Grundmeier, Robert, Grunstein, Michael, Magnusson, Michael, Grant, Struan F.A., Bønnelykke, Klaus, Bisgaard, Hans, and Hakonarson, Hakon

Published
2009

16. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Author

Glessner, Joseph T., Wang, Kai, Cai, Guiqing, Korvatska, Olena, Kim, Cecilia E., Wood, Shawn, Zhang, Haitao, Estes, Annette, Brune, Camille W., Bradfield, Jonathan P., Imielinski, Marcin, Frackelton, Edward C., Reichert, Jennifer, Crawford, Emily L., Munson, Jeffrey, Sleiman, Patrick M. A., Chiavacci, Rosetta, Annaiah, Kiran, Thomas, Kelly, Hou, Cuiping, Glaberson, Wendy, Flory, James, Otieno, Frederick, Garris, Maria, Soorya, Latha, Klei, Lambertus, Piven, Joseph, Meyer, Kacie J., Anagnostou, Evdokia, Sakurai, Takeshi, Game, Rachel M., Rudd, Danielle S., Zurawiecki, Danielle, McDougle, Christopher J., Davis, Lea K., Miller, Judith, Posey, David J., Michaels, Shana, Kolevzon, Alexander, Silverman, Jeremy M., Bernier, Raphael, Levy, Susan E., Schultz, Robert T., Dawson, Geraldine, Owley, Thomas, McMahon, William M., Wassink, Thomas H., Sweeney, John A., Nurnberger, John I., Coon, Hilary, Sutcliffe, James S., Minshew, Nancy J., Grant, Struan F. A., Bucan, Maja, Cook, Edwin H., Buxbaum, Joseph D., Devlin, Bernie, Schellenberg, Gerard D., and Hakonarson, Hakon

Published
2009
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17. 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

18. 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

21. 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

22. 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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23. 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

24. 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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25. 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

26. 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

27. Assessing the utilization of high‐resolution 2‐field HLAtyping in solid organ transplantation

Author

Huang, Yanping, Dinh, Anh, Heron, Steven, Gasiewski, Allison, Kneib, Carolina, Mehler, Hilary, Mignogno, Michael T., Morlen, Ryan, Slavich, Larissa, Kentzel, Ethan, Frackelton, Edward C., Duke, Jamie L., Ferriola, Deborah, Mosbruger, Timothy, Timofeeva, Olga A., Geier, Steven S., and Monos, Dimitri

Abstract

HLAtyping in solid organ transplantation (SOT) is necessary for determining HLA‐matching status between donor‐recipient pairs and assessing patients’ anti‐HLAantibody profiles. Histocompatibility has traditionally been evaluated based on serologically defined HLAantigens. The evolution of HLAtyping and antibody identification technologies, however, has revealed many limitations with using serologic equivalents for assessing compatibility in SOT. The significant improvements to HLAtyping introduced by next‐generation sequencing (NGS) require an assessment of the impact of this technology on SOT. We have assessed the role of high‐resolution 2‐field HLAtyping (HR‐2F) in SOTby retrospectively evaluating NGS‐typed pre‐ and post‐SOTcases. HR‐2F typing was highly instructive or necessary in 41% (156/385) of the cases. Several pre‐ and posttransplant scenarios were identified as being better served by HR‐2F typing. Five different categories are presented with specific case examples. The experience of another center (Temple University Hospital) is also included, whereby 21% of the cases required HR‐2F typing by Sanger sequencing, as supported by other legacy methods, to properly address posttransplant anti‐HLAantibody issues. Data from two transplant centers shows that high resolution 2‐field HLA typing is highly instructive and necessary to evaluate a significant portion of solid organ pre‐ and posttransplant cases.

Published
2019
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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. 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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30. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

Author

Lanktree, Matthew B., primary, Guo, Yiran, additional, Murtaza, Muhammed, additional, Glessner, Joseph T., additional, Bailey, Swneke D., additional, Onland-Moret, N. Charlotte, additional, Lettre, Guillaume, additional, Ongen, Halit, additional, Rajagopalan, Ramakrishnan, additional, Johnson, Toby, additional, Shen, Haiqing, additional, Nelson, Christopher P., additional, Klopp, Norman, additional, Baumert, Jens, additional, Padmanabhan, Sandosh, additional, Pankratz, Nathan, additional, Pankow, James S., additional, Shah, Sonia, additional, Taylor, Kira, additional, Barnard, John, additional, Peters, Bas J., additional, Maloney, Cliona M., additional, Lobmeyer, Maximilian T., additional, Stanton, Alice, additional, Zafarmand, M. Hadi, additional, Romaine, Simon P.R., additional, Mehta, Amar, additional, van Iperen, Erik P.A., additional, Gong, Yan, additional, Price, Tom S., additional, Smith, Erin N., additional, Kim, Cecilia E., additional, Li, Yun R., additional, Asselbergs, Folkert W., additional, Atwood, Larry D., additional, Bailey, Kristian M., additional, Bhatt, Deepak, additional, Bauer, Florianne, additional, Behr, Elijah R., additional, Bhangale, Tushar, additional, Boer, Jolanda M.A., additional, Boehm, Bernhard O., additional, Bradfield, Jonathan P., additional, Brown, Morris, additional, Braund, Peter S., additional, Burton, Paul R., additional, Carty, Cara, additional, Chandrupatla, Hareesh R., additional, Chen, Wei, additional, Connell, John, additional, Dalgeorgou, Chrysoula, additional, de Boer, Anthonius, additional, Drenos, Fotios, additional, Elbers, Clara C., additional, Fang, James C., additional, Fox, Caroline S., additional, Frackelton, Edward C., additional, Fuchs, Barry, additional, Furlong, Clement E., additional, Gibson, Quince, additional, Gieger, Christian, additional, Goel, Anuj, additional, Grobbee, Diederik E., additional, Hastie, Claire, additional, Howard, Philip J., additional, Huang, Guan-Hua, additional, Johnson, W. Craig, additional, Li, Qing, additional, Kleber, Marcus E., additional, Klein, Barbara E.K., additional, Klein, Ronald, additional, Kooperberg, Charles, additional, Ky, Bonnie, additional, LaCroix, Andrea, additional, Lanken, Paul, additional, Lathrop, Mark, additional, Li, Mingyao, additional, Marshall, Vanessa, additional, Melander, Olle, additional, Mentch, Frank D., additional, Meyer, Nuala J., additional, Monda, Keri L., additional, Montpetit, Alexandre, additional, Murugesan, Gurunathan, additional, Nakayama, Karen, additional, Nondahl, Dave, additional, Onipinla, Abiodun, additional, Rafelt, Suzanne, additional, Newhouse, Stephen J., additional, Otieno, F. George, additional, Patel, Sanjey R., additional, Putt, Mary E., additional, Rodriguez, Santiago, additional, Safa, Radwan N., additional, Sawyer, Douglas B., additional, Schreiner, Pamela J., additional, Simpson, Claire, additional, Sivapalaratnam, Suthesh, additional, Srinivasan, Sathanur R., additional, Suver, Christine, additional, Swergold, Gary, additional, Sweitzer, Nancy K., additional, Thomas, Kelly A., additional, Thorand, Barbara, additional, Timpson, Nicholas J., additional, Tischfield, Sam, additional, Tobin, Martin, additional, Tomaszewski, Maciej, additional, Verschuren, W.M. Monique, additional, Wallace, Chris, additional, Winkelmann, Bernhard, additional, Zhang, Haitao, additional, Zheng, Dongling, additional, Zhang, Li, additional, Zmuda, Joseph M., additional, Clarke, Robert, additional, Balmforth, Anthony J., additional, Danesh, John, additional, Day, Ian N., additional, Schork, Nicholas J., additional, de Bakker, Paul I.W., additional, Delles, Christian, additional, Duggan, David, additional, Hingorani, Aroon D., additional, Hirschhorn, Joel N., additional, Hofker, Marten H., additional, Humphries, Steve E., additional, Kivimaki, Mika, additional, Lawlor, Debbie A., additional, Kottke-Marchant, Kandice, additional, Mega, Jessica L., additional, Mitchell, Braxton D., additional, Morrow, David A., additional, Palmen, Jutta, additional, Redline, Susan, additional, Shields, Denis C., additional, Shuldiner, Alan R., additional, Sleiman, Patrick M., additional, Smith, George Davey, additional, Farrall, Martin, additional, Jamshidi, Yalda, additional, Christiani, David C., additional, Casas, Juan P., additional, Hall, Alistair S., additional, Doevendans, Pieter A., additional, Christie, Jason D., additional, Berenson, Gerald S., additional, Murray, Sarah S., additional, Illig, Thomas, additional, Dorn, Gerald W., additional, Cappola, Thomas P., additional, Boerwinkle, Eric, additional, Sever, Peter, additional, Rader, Daniel J., additional, Reilly, Muredach P., additional, Caulfield, Mark, additional, Talmud, Philippa J., additional, Topol, Eric, additional, Engert, James C., additional, Wang, Kai, additional, Dominiczak, Anna, additional, Hamsten, Anders, additional, Curtis, Sean P., additional, Silverstein, Roy L., additional, Lange, Leslie A., additional, Sabatine, Marc S., additional, Trip, Mieke, additional, Saleheen, Danish, additional, Peden, John F., additional, Cruickshanks, Karen J., additional, März, Winfried, additional, O'Connell, Jeffrey R., additional, Klungel, Olaf H., additional, Wijmenga, Cisca, additional, Maitland-van der Zee, Anke Hilse, additional, Schadt, Eric E., additional, Johnson, Julie A., additional, Jarvik, Gail P., additional, Papanicolaou, George J., additional, Grant, Struan F.A., additional, Munroe, Patricia B., additional, North, Kari E., additional, Samani, Nilesh J., additional, Koenig, Wolfgang, additional, Gaunt, Tom R., additional, Anand, Sonia S., additional, van der Schouw, Yvonne T., additional, Soranzo, Nicole, additional, FitzGerald, Garret A., additional, Reiner, Alex, additional, Hegele, Robert A., additional, Hakonarson, Hakon, additional, and Keating, Brendan J., additional

Published
2012
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31. TELOMERE LENGTH AND CARDIOVASCULAR OUTCOMES

Author

Ruff, Christian T., primary, Mega, Jessica, additional, Morrow, David, additional, Scirica, Benjamin, additional, Frackelton, Edward C., additional, Hakonarson, Hakon, additional, Crowley, Kevin, additional, Contant, Charles, additional, Cannon, Christopher, additional, Braunwald, Eugene, additional, and Sabatine, Marc, additional

Published
2012
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32. 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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33. 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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34. 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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35. 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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36. Duplication of the SLIT3 Locus on 5q35.1 Predisposes to Major Depressive Disorder

Author

Glessner, Joseph T., primary, Wang, Kai, additional, Sleiman, Patrick M. A., additional, Zhang, Haitao, additional, Kim, Cecilia E., additional, Flory, James H., additional, Bradfield, Jonathan P., additional, Imielinski, Marcin, additional, Frackelton, Edward C., additional, Qiu, Haijun, additional, Mentch, Frank, additional, Grant, Struan F. A., additional, and Hakonarson, Hakon, additional

Published
2010
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37. 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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38. 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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39. 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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40. 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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41. 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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42. Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease

Author

Wang, Kai, primary, Zhang, Haitao, additional, Kugathasan, Subra, additional, Annese, Vito, additional, Bradfield, Jonathan P., additional, Russell, Richard K., additional, Sleiman, Patrick M.A., additional, Imielinski, Marcin, additional, Glessner, Joseph, additional, Hou, Cuiping, additional, Wilson, David C., additional, Walters, Thomas, additional, Kim, Cecilia, additional, Frackelton, Edward C., additional, Lionetti, Paolo, additional, Barabino, Arrigo, additional, Van Limbergen, Johan, additional, Guthery, Stephen, additional, Denson, Lee, additional, Piccoli, David, additional, Li, Mingyao, additional, Dubinsky, Marla, additional, Silverberg, Mark, additional, Griffiths, Anne, additional, Grant, Struan F.A., additional, Satsangi, Jack, additional, Baldassano, Robert, additional, and Hakonarson, Hakon, additional

Published
2009
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43. 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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44. Association Analysis of the FTO Gene with Obesity in Children of Caucasian and African Ancestry Reveals a Common Tagging SNP

Author

Grant, Struan F. A., primary, Li, Mingyao, additional, Bradfield, Jonathan P., additional, Kim, Cecilia E., additional, Annaiah, Kiran, additional, Santa, Erin, additional, Glessner, Joseph T., additional, Casalunovo, Tracy, additional, Frackelton, Edward C., additional, Otieno, F. George, additional, Shaner, Julie L., additional, Smith, Ryan M., additional, Imielinski, Marcin, additional, Eckert, Andrew W., additional, Chiavacci, Rosetta M., additional, Berkowitz, Robert I., additional, and Hakonarson, Hakon, additional

Published
2008
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45. Association of HMGA2 Gene Variation with Height in Specific Pediatric Age Categories

Author

Grant, Struan F.A., primary, Li, Mingyao, additional, Bradfield, Jonathan P., additional, Kim, Cecilia E., additional, Annaiah, Kiran, additional, Santa, Erin, additional, Glessner, Joseph T., additional, Casalunovo, Tracy, additional, Frackelton, Edward C, additional, Otieno, F. George, additional, Shaner, Julie L., additional, Smith, Ryan M., additional, Eckert, Andrew W., additional, Imielinski, Marcin, additional, Chiavacci, Rosetta M., additional, Berkowitz, Robert I., additional, and Hakonarson, Hakon, additional

Published
2008
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46. The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

Author

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

Subjects
OBESITY, FAT, MEMBRANE proteins, CHILDHOOD obesity, ETHNICITY
Abstract

Objective: Common variation at the loci harboring fat mass and obesity ( FTO), melanocortin receptor 4 ( MC4R), and transmembrane protein 18 ( TMEM18) is consistently reported as being statistically most strongly associated with obesity. Investigations if these loci also harbor rarer missense variants that confer substantially higher risk of common childhood obesity in African American (AA) children were conducted. Design and Methods: The exons of FTO, MC4R, and TMEM18 in an initial subset of our cohort were sequenced, that is, 200 obese (BMI≥95th percentile) and 200 lean AA children (BMI≤5th percentile). Any missense exonic variants that were uncovered went on to be further genotyped in a further 768 obese and 768 lean (BMI≤50th percentile) children of the same ethnicity. Results: A number of exonic variants were observed from our sequencing effort: seven in FTO, of which four were non-synonymous (A163T, G182A, M400V, and A405V), thirteen in MC4R, of which six were non-synonymous (V103I, N123S, S136A, F202L, N240S, and I251L), and four in TMEM18, of which two were non-synonymous (P2S and V113L). Follow-up genotyping of these missense variants revealed only one significant difference in allele frequency between cases and controls, namely with N240S in MC4R (Fisher's exact P = 0.0001). Conclusion: In summary, moderately rare missense variants within the FTO, MC4R, and TMEM18 genes observed in our study did not confer risk of common childhood obesity in African Americans except for a degree of evidence for one known loss-of-function variant in MC4R. [ABSTRACT FROM AUTHOR]

Published
2013
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47. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.

Author

Elia, Josephine, Glessner, Joseph T, Wang, Kai, Takahashi, Nagahide, Shtir, Corina J, Hadley, Dexter, Sleiman, Patrick M A, Zhang, Haitao, Kim, Cecilia E, Robison, Reid, Lyon, Gholson J, Flory, James H, Bradfield, Jonathan P, Imielinski, Marcin, Hou, Cuiping, Frackelton, Edward C, Chiavacci, Rosetta M, Sakurai, Takeshi, Rabin, Cara, and Middleton, Frank A

Subjects
HUMAN genetic variation, ATTENTION-deficit hyperactivity disorder, GENETIC disorders in children, NEURAL transmission, GENOMES, GENOMICS, HUMAN genetics, GENETICS
Abstract

Attention deficit hyperactivity disorder (ADHD) is a common, heritable neuropsychiatric disorder of unknown etiology. We performed a whole-genome copy number variation (CNV) study on 1,013 cases with ADHD and 4,105 healthy children of European ancestry using 550,000 SNPs. We evaluated statistically significant findings in multiple independent cohorts, with a total of 2,493 cases with ADHD and 9,222 controls of European ancestry, using matched platforms. CNVs affecting metabotropic glutamate receptor genes were enriched across all cohorts (P = 2.1 × 10?9). We saw GRM5 (encoding glutamate receptor, metabotropic 5) deletions in ten cases and one control (P = 1.36 × 10?6). We saw GRM7 deletions in six cases, and we saw GRM8 deletions in eight cases and no controls. GRM1 was duplicated in eight cases. We experimentally validated the observed variants using quantitative RT-PCR. A gene network analysis showed that genes interacting with the genes in the GRM family are enriched for CNVs in ?10% of the cases (P = 4.38 × 10?10) after correction for occurrence in the controls. We identified rare recurrent CNVs affecting glutamatergic neurotransmission genes that were overrepresented in multiple ADHD cohorts. [ABSTRACT FROM AUTHOR]

Published
2012
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48. BMD-Associated Variation at the Osterix Locus Is Correlated With Childhood Obesity in Females.

Author

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

Subjects
BONE density, CHILDHOOD obesity, OSTEOPOROSIS in women, GENOMICS, OBESITY genetics
Abstract

Recent genome wide association studies (GWAS) have revealed a number of genetic variants robustly associated with bone mineral density (BMD) and/or osteoporosis. Evidence from epidemiological and clinical studies has shown an association between BMD and BMI, presumably as a consequence of bone loading. We investigated the 23 previously published BMD GWAS-derived loci in the context of childhood obesity by leveraging our existing genome-wide genotyped European American cohort of 1,106 obese children (BMI ≥95th percentile) and 5,997 controls (BMI <95th percentile). Evidence of association was only observed at one locus, namely Osterix (SP7), with the G allele of rs2016266 being significantly over-represented among childhood obesity cases (P = 2.85 × 10−3). When restricting these analyses to each gender, we observed strong association between rs2016266 and childhood obesity in females (477 cases and 2,867 controls; P = 3.56 × 10−4), which survived adjustment for all tests applied. However, no evidence of association was observed among males. Interestingly, Osterix is the only GWAS locus uncovered to date that has also been previously implicated in the determination of BMD in childhood. In conclusion, these findings indicate that a well established variant at the Osterix locus associated with increased BMD is also associated with childhood obesity primarily in females. [ABSTRACT FROM AUTHOR]

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

Author

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

Subjects
TYPE 2 diabetes, GENOMES, PEDIATRICS, GENETIC polymorphisms, NUCLEOTIDES
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. [ABSTRACT FROM AUTHOR]

Published
2010
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50. Common variants at five new loci associated with early-onset inflammatory bowel disease.

Author

Imielinski, Marcin, Baldassano, Robert N., Griffiths, Anne, Russell, Richard K., Annese, Vito, Dubinsky, Marla, Kugathasan, Subra, Bradfield, Jonathan P., Walters, Thomas D., Sleiman, Patrick, Kim, Cecilia E., Muise, Aleixo, Kai Wang, Glessner, Joseph T., Saeed, Shehzad, Haitao Zhang, Frackelton, Edward C., Cuiping Hou, Flory, James H., and Otieno, George

Subjects
INFLAMMATORY bowel diseases, CROHN'S disease, ULCERATIVE colitis, HUMAN genome, DISEASE susceptibility
Abstract

The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America, thereby extending the results from a previous study of 1,011 individuals with early-onset IBD. We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 × 10−9), 22q12 (rs2412973, P = 1.55 × 10−9), 10q22 (rs1250550, P = 5.63 × 10−9), 2q37 (rs4676410, P = 3.64 × 10−8) and 19q13.11 (rs10500264, P = 4.26 × 10−10). Our scan also detected associations at 23 of 32 loci previously implicated in adult-onset Crohn's disease and at 8 of 17 loci implicated in adult-onset ulcerative colitis, highlighting the close pathogenetic relationship between early- and adult-onset IBD. [ABSTRACT FROM AUTHOR]

Published
2009
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