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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. Additional file 1 of Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders

Author

Glessner, Joseph T., Khan, Munir E., Chang, Xiao, Liu, Yichuan, Otieno, F. George, Lemma, Maria, Slaby, Isabella, Hain, Heather, Mentch, Frank, Li, Jin, Kao, Charlly, Sleiman, Patrick M. A., March, Michael E., Connolly, John, and Hakonarson, Hakon

Abstract

Additional file 1: Supplementary methods. ADHD and Autism Phenotype Query Parameters. Supplementary Table S1. ADHD Inclusion/ Exclusion Table. Supplementary Table S2. Autism Inclusion/ Exclusion Table. Supplementary Table S3. mGluR Interacting Genes (n=273). Supplementary Table S4. CNVs in mGluR interacting gene regions significantly associated in ADHD cases vs. controls. Supplementary Table S5. CNVs in mGluR interacting gene regions significantly associated in ASD cases vs. controls. Supplementary Table S6. CNVs in mGluR interacting gene regions significantly associated in ADHD & ASD cases vs. controls. Supplementary Figure S1. DeepCNV Probability in mGluR CNVs Passing Prior Visual Inspection. Supplementary Figure S2. mGluR CNV Association Study Manhattan Plot.

Published
2023
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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. 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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8. 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

9. 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

10. 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

11. 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

12. 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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13. 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

14. A missense mutation in ANKRD26 segregates with thrombocytopenia

Author

Al Daama, Saad A., primary, Housawi, Yousef H., additional, Dridi, Walid, additional, Sager, Mohammed, additional, Otieno, F. George, additional, Hou, Cuiping, additional, Vasquez, Lyam, additional, Kim, Cecilia, additional, Tian, Lifeng, additional, Sleiman, Patrick, additional, and Hakonarson, Hakon, additional

Published
2013
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15. 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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16. 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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17. 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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18. A Genome-Wide Association Study Identifies a Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on 8q24

Author

Grant, Struan F.A., primary, Wang, Kai, additional, Zhang, Haitao, additional, Glaberson, Wendy, additional, Annaiah, Kiran, additional, Kim, Cecilia E., additional, Bradfield, Jonathan P., additional, Glessner, Joseph T., additional, Thomas, Kelly A., additional, Garris, Maria, additional, Frackelton, Edward C., additional, Otieno, F. George, additional, Chiavacci, Rosetta M., additional, Nah, Hyun-Duck, additional, Kirschner, Richard E., additional, and Hakonarson, Hakon, additional

Published
2009
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19. 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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20. 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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21. 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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22. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry

Author

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

Published
2008
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23. 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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24. 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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25. 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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26. 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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28. ▪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

Subjects
INTERLEUKINS, CROHN'S disease, JUVENILE diseases, STATISTICAL hypothesis testing
Abstract

Background & Aims: Recently an association was shown between the single nucleotide polymorphism (SNP), rs11209026, within the interleukin-23 receptor (IL23R) locus and Crohn’s disease (CD) as a consequence of a genome-wide association study of this disease in adults. We examined the effects of this and other previously reported SNPs at this locus with respect to CD in children. Methods: By using data from our ongoing genome-wide association study in our cohort of 142 pediatric CD patients and 281 matched controls, we investigated the association of the previously reported SNPs at the IL23R locus with the childhood form of this disease. Results: By using the Fisher exact test, the minor allele frequency of rs11209026 in the patients was 1.75%, whereas it was 6.61% in the controls, yielding a protective odds ratio (OR) of 0.25 (95% confidence interval, 0.10–0.65; 1-sided P = 9.2 × 10−4). Furthermore, of all the SNPs previously reported, rs11209026 was associated the most strongly. A subsequent family based association test (which is more resistant to population stratification) with 65 sets of trios derived from our initial patient cohort yielded significant association with rs11209026 in a transmission disequilibrium test (1-sided P = .0017). In contrast, no association was detected to the caspase-recruitment domain 15 gene for the inflammatory bowel disease phenotype. Conclusions: The OR of the IL23R variant in our pediatric study is highly comparable with that reported previously in a non-Jewish adult inflammatory bowel disease case-control cohort (OR, 0.26). As such, variants in the IL23R gene confer a similar magnitude of risk of CD to children as for their adult counterparts. [Copyright &y& Elsevier]

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

Author

Boldassano, Robert N., Bradfield, Jonathan P., Manos, 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, Struaan F. A., and Hakonarson, Hakon

Subjects
LETTERS to the editor, CROHN'S disease
Abstract

A letter to the editor which offers information about the association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to pediatric Crohn's disease is presented.

Published
2007
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30. 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, F. George, Santa, Erin, Thomas, Kelly, Smith, Ryan M., and Glaberson, Wendy R.

Subjects
*ASTHMA in children, *NUCLEOTIDES, *CHROMOSOMES, *KILLER cells, *TUMOR necrosis factors, *GENES, THERAPEUTIC use of glucocorticoids
Abstract

Background: Asthma is a complex disease that has genetic and environmental causes. The genetic factors associated with susceptibility to asthma remain largely unknown. Methods: We carried out a genomewide association study involving children with asthma. The sample included 793 North American children of European ancestry with persistent asthma who required daily inhaled glucocorticoid therapy and 1988 matched controls (the discovery set). We also tested for genomewide association in an independent cohort of 917 persons of European ancestry who had asthma and 1546 matched controls (the replication set). Finally, we tested for an association between 20 single-nucleotide polymorphisms (SNPs) at chromosome 1q31 and asthma in 1667 North American children of African ancestry who had asthma and 2045 ancestrally matched controls. Results: In our meta-analysis of all samples from persons of European ancestry, we observed an association, with genomewide significance, between asthma and SNPs at the previously reported locus on 17q21 and an additional eight SNPs at a novel locus on 1q31. The SNP most strongly associated with asthma was rs2786098 (P=8.55×10−9). We observed replication of the association of asthma with SNP rs2786098 in the independent series of persons of European ancestry (combined P=9.3×10−11). The alternative allele of each of the eight SNPs on chromosome 1q31 was strongly associated with asthma in the children of African ancestry (P=1.6×10−13 for the comparison across all samples). The 1q31 locus contains DENND1B, a gene that is expressed by natural killer cells and dendritic cells and that encodes a protein that interacts with the tumor necrosis factor α receptor. Conclusions: We have identified a locus containing DENND1B on chromosome 1q31.3 that is associated with susceptibility to asthma. N Engl J Med 2010;362:36-44. [ABSTRACT FROM AUTHOR]

Published
2010
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31. Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.

Author

Grant SF, Petri M, Bradfield JP, Kim CE, Santa E, Annaiah K, Frackelton EC, Glessner JT, Otieno FG, Shaner JL, Smith RM, Eckert AW, Chiavacci RM, Imielinski M, Sullivan KE, and Hakonarson H

Abstract

Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs10516487, within the B-cell gene BANK1 and systemic lupus erythematosus (SLE) as a consequence of a genome wide association study of this disease in European and Argentinean populations. In a bid for replication, we examined the effects of the R61H non-synonymous variant with respect to SLE in our genotyped American cohorts of European and African ancestry. Utilizing data from our ongoing genome-wide association study in our cohort of 178 Caucasian SLE cases and 1808 Caucasian population-based controls plus 148 African American (AA) SLE cases and 1894 AA population-based controls we investigated the association of the previously described non-synonymous SNP at the BANK1 locus with the disease in the two ethnicities separately. Using a Fisher's exact test, the minor allele frequency (MAF) of rs10516487 in the Caucasian cases was 22.6% while it was 31.2% in Caucasian controls, yielding a protective odds ratio (OR) of 0.64 (95% CI 0.49-0.85; one-sided p = 7.07 × 10(-4)). Furthermore, the MAF of rs10516487 in the AA cases was 18.7% while it was 23.3% in AA controls, yielding a protective OR of 0.75 (95% CI 0.55-1.034; one-sided p = 0.039). The OR of the BANK1 variant in our study cohorts is highly comparable with that reported previously in a South American/European SLE case-control cohort (OR = 0.72). As such, R61H in the BANK1 gene confers a similar magnitude of SLE protection, not only in European Americans, but also in African Americans.

Published
2009
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32. Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.

Author

Behrens EM, Finkel TH, Bradfield JP, Kim CE, Linton L, Casalunovo T, Frackelton EC, Santa E, Otieno FG, Glessner JT, Chiavacci RM, Grant SF, and Hakonarson H

Subjects
Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Male, Polymorphism, Single Nucleotide, Risk Factors, White People, Arthritis, Juvenile genetics, Chromosomes, Human, Pair 9 genetics, Complement C5 genetics, TNF Receptor-Associated Factor 1 genetics
Published
2008
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