URI: http://hdl.handle.net/2144/2468

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  • Genetic Analysis Workshop 16: Strategies for Genome-Wide Association Study Analyses 

    Cupples, L. Adrienne; Beyene, Joseph; Bickeböller, Heike; Daw, E. Warwick; Fallin, M. Daniele; Gauderman, W. James; Ghosh, Saurabh; Goode, Ellen L.; Hauser, Elizabeth R.; Hinrichs, Anthony; Kent, Jack W.; Martin, Lisa J.; Martinez, Maria; Neuman, Rosalind J.; Province, Michael; Szymczak, Silke; Wilcox, Marsha A.; Ziegler, Andreas; MacCluer, Jean W.; Almasy, Laura (BioMed Central, 2009-12-15)
  • On the Analysis of Genome-Wide Association Studies in Family-Based Designs: A Universal, Robust Analysis Approach and an Application to Four Genome-Wide Association Studies 

    Won, Sungho; Wilk, Jemma B.; Mathias, Rasika A.; O'Donnell, Christopher J.; Silverman, Edwin K.; Barnes, Kathleen; O'Connor, George T.; Weiss, Scott T.; Lange, Christoph (Public Library of Science, 2009-11-26)
    For genome-wide association studies in family-based designs, we propose a new, universally applicable approach. The new test statistic exploits all available information about the association, while, by virtue of its design, ...
  • Forty-Three Loci Associated with Plasma Lipoprotein Size, Concentration, and Cholesterol Content in Genome-Wide Analysis 

    Chasman, Daniel I.; Paré, Guillaume; Mora, Samia; Hopewell, Jemma C.; Peloso, Gina; Clarke, Robert; Cupples, L. Adrienne; Hamsten, Anders; Kathiresan, Sekar; Mälarstig, Anders; Ordovas, José M.; Ripatti, Samuli; Parker, Alex N.; Miletich, Joseph P.; Ridker, Paul M. (Public Library of Science, 2009-11-20)
    While conventional LDL-C, HDL-C, and triglyceride measurements reflect aggregate properties of plasma lipoprotein fractions, NMR-based measurements more accurately reflect lipoprotein particle concentrations according to ...
  • Incorporating Biological Knowledge in the Search for Gene × Gene Interaction in Genome-Wide Association Studies 

    Manning, Alisa K; Ngwa, Julius Suh; Hendricks, Audrey E; Liu, Ching-Ti; Johnson, Andrew D; Dupuis, Josée; Cupples, L Adrienne (BioMed Central, 2009-12-15)
    We sought to find significant gene × gene interaction in a genome-wide association analysis of rheumatoid arthritis (RA) by performing pair-wise tests of interaction among collections of single-nucleotide polymorphisms ...
  • Description of the Framingham Heart Study Data for Genetic Analysis Workshop 13 

    Cupples, L Adrienne; Yang, Qiong; Demissie, Serkalem; Copenhafer, Donna; Levy, Daniel (BioMed Central, 2003-12-31)
  • A Three-Stage Approach for Genome-Wide Association Studies with Family Data for Quantitative Traits 

    Chen, Ming-Huei; Larson, Martin G.; Hsu, Yi-Hsiang; Peloso, Gina M.; Guo, Chao-Yu; Fox, Caroline S.; Atwood, Larry D.; Yang, Qiong (BioMed Central, 2010-5-14)
    BACKGROUND. Genome-wide association (GWA) studies that use population-based association approaches may identify spurious associations in the presence of population admixture. In this paper, we propose a novel three-stage ...
  • Consistency of Linkage Results across Exams and Methods in the Framingham Heart Study 

    Atwood, Larry D.; Heard-Costa, Nancy L.; Cupples, L. Adrienne; Levy, Daniel (BioMed Central, 2003-12-31)
    BACKGROUND. The repeated measures in the Framingham Heart Study in the Genetic Analysis Workshop 13 data set allow us to test for consistency of linkage results within a study across time. We compared regression-based ...
  • Genetics Analysis Workshop 16 Problem 2: tTe Framingham Heart Study Data 

    Cupples, L. Adrienne; Heard-Costa, Nancy; Lee, Monica; Atwood, Larry D. (BioMed Central, 2009-12-15)
    Genetic Analysis Workshop 16 (GAW16) Problem 2 presented data from the Framingham Heart Study (FHS), an observational, prospective study of risk factors for cardiovascular disease begun in 1948. Data have been collected ...
  • The impact of complex informative missingness on the validity of the transmission/disequilibrium test (TDT) 

    Guo, Chao-Yu (BioMed Central, 2007-12-18)
    The transmission/disequilibrium test was introduced to test for linkage and association between a marker and a putative disease locus using case-parent triads. Several extensions have been proposed to accommodate incomplete ...
  • Offspring's Leukocyte Telomere Length, Paternal Age, and Telomere Elongation in Sperm 

    Kimura, Masayuki; Cherkas, Lynn F.; Kato, Bernet S.; Demissie, Serkalem; Hjelmborg, Jacob B.; Brimacombe, Michael; Cupples, Adrienne; Hunkin, Janice L.; Gardner, Jefferey P.; Lu, Xiaobin; Cao, Xiaojian; Sastrasinh, Malinee; Province, Michael A.; Hunt, Steven C.; Christensen, Kaare; Levy, Daniel; Spector, Tim D.; Aviv, Abraham (Public Library of Science, 2008-2-15)
    Leukocyte telomere length (LTL) is a complex genetic trait. It shortens with age and is associated with a host of aging-related disorders. Recent studies have observed that offspring of older fathers have longer LTLs. We ...
  • An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility loci for osteoporosis-related traits 

    Hsu, Yi-Hsiang; Zillikens, M. Carola; Wilson, Scott G.; Farber, Charles R.; Demissie, Serkalem; Soranzo, Nicole; Bianchi, Estelle N.; Grundberg, Elin; Liang, Liming; Richards, J. Brent; Estrada, Karol; Zhou, Yanhua; van Nas, Atila; Moffatt, Miriam F.; Zhai, Guangju; Hofman, Albert; van Meurs, Joyce B.; Pols, Huibert A. P.; Price, Roger I.; Nilsson, Olle; Pastinen, Tomi; Cupples, L. Adrienne; Lusis, Aldons J.; Schadt, Eric E.; Ferrari, Serge; Uitterlinden, André G.; Rivadeneira, Fernando; Spector, Timothy D.; Karasik, David; Kiel, Douglas P. (Public Library of Science, 2010-6-10)
    Osteoporosis is a complex disorder and commonly leads to fractures in elderly persons. Genome-wide association studies (GWAS) have become an unbiased approach to identify variations in the genome that potentially affect ...
  • Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six loci influencing serum magnesium levels 

    Meyer, Tamra E.; Verwoert, Germaine C.; Hwang, Shih-Jen; Glazer, Nicole L.; Smith, Albert V.; Van Rooij, Frank J. A.; Ehret, Georg B.; Boerwinkle, Eric; Felix, Janine F.; Leak, Tennille S.; Harris, Tamara B.; Yang, Qiong; Dehghan, Abbas; Aspelund, Thor; Katz, Ronit; Homuth, Georg; Kocher, Thomas; Rettig, Rainer; Ried, Janina S.; Gieger, Christian; Prucha, Hanna; Pfeufer, Arne; Meitinger, Thomas; Coresh, Josef; Hofman, Albert; Sarnak, Mark J.; Chen, Yii-Der Ida; Uitterlinden, André G.; Chakravarti, Aravinda; Psaty, Bruce M.; Van Duijn, Cornelia M.; Kao, W. H. Linda; Witteman, Jacqueline C. M.; Gudnason, Vilmundur; Siscovick, David S.; Fox, Caroline S.; Köttgen, Anna (Public Library of Science, 2010-8-5)
    Magnesium, potassium, and sodium, cations commonly measured in serum, are involved in many physiological processes including energy metabolism, nerve and muscle function, signal transduction, and fluid and blood pressure ...
  • Evaluation of Association of HNF1B Variants with Diverse Cancers: Collaborative Analysis of Data from 19 Genome-Wide Association Studies 

    Elliott, Katherine S.; Zeggini, Eleftheria; McCarthy, Mark I.; Gudmundsson, Julius; Sulem, Patrick; Stacey, Simon N.; Thorlacius, Steinunn; Amundadottir, Laufey; Grönberg, Henrik; Xu, Jianfeng; Gaborieau, Valerie; Eeles, Rosalind A.; Neal, David E.; Donovan, Jenny L.; Hamdy, Freddie C.; Muir, Kenneth; Hwang, Shih-Jen; Spitz, Margaret R.; Zanke, Brent; Carvajal-Carmona, Luis; Brown, Kevin M.; Mann, Graham J.; Hayward, Nicholas K.; Macgregor, Stuart; Tomlinson, Ian P. M.; Lemire, Mathieu; Amos, Christopher I.; Murabito, Joanne M.; Isaacs, William B.; Easton, Douglas F.; Brennan, Paul; Barkardottir, Rosa B.; Gudbjartsson, Daniel F.; Rafnar, Thorunn; Hunter, David J.; Chanock, Stephen J.; Stefansson, Kari; Ioannidis, John P. A.; Hopper, John L.; Aitken, Joanne F.; Kefford, Richard F.; Giles, Graham G.; Armstrong, Bruce K. (Public Library of Science, 2010-5-28)
    BACKGROUND. Genome-wide association studies have found type 2 diabetes-associated variants in the HNF1B gene to exhibit reciprocal associations with prostate cancer risk. We aimed to identify whether these variants may ...
  • Metabolic Profiling of the Human Response to a Glucose Challenge Reveals Distinct Axes of Insulin Sensitivity 

    Shaham, Oded; Wei, Ru; Wang, Thomas J.; Ricciardi, Catherine; Lewis, Gregory D.; Vasan, Ramachandran S.; Carr, Steven A.; Thadhani, Ravi; Gerszten, Robert E.; Mootha, Vamsi K. (Nature Publishing GroupMolecular Systems Biology, 2008-08-05)
    Glucose ingestion after an overnight fast triggers an insulin-dependent, homeostatic program that is altered in diabetes. The full spectrum of biochemical changes associated with this transition is currently unknown. We ...
  • Interpreting Metabolomic Profiles using Unbiased Pathway Models 

    Deo, Rahul C.; Hunter, Luke; Lewis, Gregory D.; Pare, Guillaume; Vasan, Ramachandran S.; Chasman, Daniel; Wang, Thomas J.; Gerszten, Robert E.; Roth, Frederick P. (Public Library of Science, 2010-2-26)
    Human disease is heterogeneous, with similar disease phenotypes resulting from distinct combinations of genetic and environmental factors. Small-molecule profiling can address disease heterogeneity by evaluating the ...
  • A Genome-Wide Association Study of Pulmonary Function Measures in the Framingham Heart Study 

    Wilk, Jemma B.; Chen, Ting-hsu; Gottlieb, Daniel J.; Walter, Robert E.; Nagle, Michael W.; Brandler, Brian J.; Myers, Richard H.; Borecki, Ingrid B.; Silverman, Edwin K.; Weiss, Scott T.; O'Connor, George T. (Public Library of Science, 2009-3-20)
    The ratio of forced expiratory volume in one second to forced vital capacity (FEV1/FVC) is a measure used to diagnose airflow obstruction and is highly heritable. We performed a genome-wide association study in 7,691 ...
  • Impact of Non-Ignorable Missingness on Genetic Tests of Linkage and/or Association Using Case-Parent Trios 

    Guo, Chao-Yu; Cui, Jing; Cupples, L Adrienne (BioMed Central, 2005-12-30)
    The transmission/disequilibrium test was introduced to test for linkage disequilibrium between a marker and a putative disease locus using case-parent trios. However, parental genotypes may be incomplete in such a study. ...
  • NRXN3 Is a Novel Locus for Waist Circumference: A Genome-Wide Association Study from the CHARGE Consortium 

    Heard-Costa, Nancy L.; Zillikens, M. Carola; Monda, Keri L.; Johansson, Åsa; Harris, Tamara B.; Fu, Mao; Haritunians, Talin; Feitosa, Mary F.; Aspelund, Thor; Eiriksdottir, Gudny; Garcia, Melissa; Launer, Lenore J.; Smith, Albert V.; Mitchell, Braxton D.; McArdle, Patrick F.; Shuldiner, Alan R.; Bielinski, Suzette J.; Boerwinkle, Eric; Brancati, Fred; Demerath, Ellen W.; Pankow, James S.; Arnold, Alice M.; Chen, Yii-Der Ida; Glazer, Nicole L.; McKnight, Barbara; Psaty, Bruce M.; Rotter, Jerome I.; Amin, Najaf; Campbell, Harry; Gyllensten, Ulf; Pattaro, Cristian; Pramstaller, Peter P.; Rudan, Igor; Struchalin, Maksim; Vitart, Veronique; Gao, Xiaoyi; Kraja, Aldi; Province, Michael A.; Zhang, Qunyuan; Atwood, Larry D.; Dupuis, Josée; Hirschhorn, Joel N.; Jaquish, Cashell E.; O'Donnell, Christopher J.; Vasan, Ramachandran S.; White, Charles C.; Aulchenko, Yurii S.; Estrada, Karol; Hofman, Albert; Rivadeneira, Fernando; Uitterlinden, André G.; Witteman, Jacqueline C. M.; Oostra, Ben A.; Kaplan, Robert C.; Gudnason, Vilmundur; O'Connell, Jeffrey R.; Borecki, Ingrid B.; Van Duijn, Cornelia M.; Cupples, L. Adrienne; Fox, Caroline S.; North, Kari E. (Public Library of Science, 2009-6-26)
    Central abdominal fat is a strong risk factor for diabetes and cardiovascular disease. To identify common variants influencing central abdominal fat, we conducted a two-stage genome-wide association analysis for waist ...
  • Framingham Heart Study 100K Project: Genome-Wide Associations for Cardiovascular Disease Outcomes 

    Larson, Martin G.; Atwood, Larry D.; Benjamin, Emelia J.; Cupples, L. Adrienne; D'Agostino, Ralph B.; Fox, Caroline S.; Govindaraju, Diddahally R.; Guo, Chao-Yu; Heard-Costa, Nancy L.; Hwang, Shih-Jen; Murabito, Joanne M.; Newton-Cheh, Christopher; O'Donnell, Christopher J.; Seshadri, Sudha; Vasan, Ramachandran S.; Wang, Thomas J.; Wolf, Philip A.; Levy, Daniel (BioMed Central, 2007-9-19)
    BACKGROUND: Cardiovascular disease (CVD) and its most common manifestations – including coronary heart disease (CHD), stroke, heart failure (HF), and atrial fibrillation (AF) – are major causes of morbidity and mortality. ...
  • Plasma Leptin Levels and Incidence of Heart Failure, Cardiovascular Disease, and Total Mortality in Elderly Individuals 

    Lieb, Wolfgang; Sullivan, Lisa M.; Harris, Tamara B.; Roubenoff, Ronenn; Benjamin, Emelia J.; Levy, Daniel; Fox, Caroline S.; Wang, Thomas J.; Wilson, Peter W.; Kannel, William B.; Vasan, Ramachandran S. (American Diabetes Association, 2008-12-29)
    OBJECTIVE: Obesity predisposes individuals to congestive heart failure (CHF) and cardiovascular disease (CVD). Leptin regulates energy homeostasis, is elevated in obesity, and influences ventricular and vascular remodeling. ...

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