379 results on '"Streeten, Elizabeth"'
Search Results
52. Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
- Author
-
Lynch, Megan T., Maloney, Kristin A., Pollin, Toni I., Streeten, Elizabeth A., Puffenberger, Erik G., Strauss, Kevin A., Shuldiner, Alan R., and Mitchell, Braxton D.
- Abstract
Genetically isolated populations that arise due to recent bottleneck events have reduced genetic variation reflecting the common set of founders. Increased genetic relatedness among members of isolated populations puts them at increased risk for some recessive disorders that are rare in outbred populations. To assess the burden on reproductive health, we compared frequencies of adverse reproductive outcomes between Amish couples who were both heterozygous carriers of a highly penetrant pathogenic or likely pathogenic variant and noncarrier couples from the same Amish community. In addition, we evaluated whether overall genetic relatedness of parents was associated with reproductive outcomes. Of the 1824 couples included in our study, 11.1% were at risk of producing a child with an autosomal recessive disorder. Carrier couples reported a lower number of miscarriages compared to noncarrier couples (p = 0.02), although the number of stillbirths (p = 0.3), live births (p = 0.9), and number of pregnancies (p = 0.9) did not differ significantly between groups. In contrast, higher overall relatedness between spouses was positively correlated with number of live births (p < 0.0001), pregnancies (p < 0.0001), and stillbirths (p = 0.03), although not with the number of miscarriages (p = 0.4). These results highlight a complex association between relatedness of parents and reproductive health outcomes in this community. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
53. Impact of genetic relatedness of parents on reproductive outcomes
- Author
-
Lynch, Megan, primary, Maloney, Kristin, additional, Pollin, Toni, additional, Streeten, Elizabeth, additional, Puffenberger, Erik, additional, Strauss, Kevin, additional, Shuldiner, Alan, additional, and Mitchell, Braxton, additional
- Published
- 2021
- Full Text
- View/download PDF
54. Novel BMD loci identified by whole genome sequencing and CRISPR editing in zebrafish: The NHLBI Trans-Omics for Precision Medicine (TOPMED) study
- Author
-
Hsu, Yi-Hsiang, primary, Tang, Joyce W., additional, Xu, Hanfei, additional, Choy, Cecily, additional, Montasser, May, additional, Crandall, Carolyn, additional, Tsai, Ming-Ju, additional, Fu, Mao, additional, O'Connell, Jeff R., additional, Perry, James, additional, Salimi, Shabnam, additional, Streeten, Elizabeth, additional, Farber, Charles, additional, Karasik, David, additional, Evans, David M., additional, Tobias, Jonathan H., additional, Richards, Brent, additional, Liu, Ching-Ti, additional, Wallace, Robert, additional, Blangero, John, additional, Wiggins, Kerri, additional, Jackson, Rebecca, additional, Kiel, Douglas, additional, Mitchell, Braxton D., additional, and Kwon, Ronald Y., additional
- Published
- 2021
- Full Text
- View/download PDF
55. Decreased Bone Mineral Density in Subjects Carrying Familial Defective Apolipoprotein B-100
- Author
-
Yerges-Armstrong, Laura M., Shen, Haiqing, Ryan, Kathleen A., Streeten, Elizabeth A., Shuldiner, Alan R., and Mitchell, Braxton D.
- Published
- 2013
56. Vitamin D Metabolism or Action
- Author
-
Streeten, Elizabeth A., primary and Levine, Michael A, additional
- Published
- 2013
- Full Text
- View/download PDF
57. Genetic and environmental influences on bone mineral density in pre- and post-menopausal women
- Author
-
Brown, Lillian B., Streeten, Elizabeth A., Shapiro, Jay R., McBride, Daniel, Shuldiner, Alan R., Peyser, Patricia A., and Mitchell, Braxton D.
- Published
- 2005
- Full Text
- View/download PDF
58. Does having children extend life span? A genealogical study of parity and longevity in the Amish
- Author
-
McArdle, Patrick F., Pollin, Toni I., O'Connell, Jeffrey R., Sorkin, John D., Agarwala, Richa, Schaffer, Alejandro A., Streeten, Elizabeth A., King, Terri M., Shuldiner, Alan R., and Mitchell, Braxton D.
- Subjects
Longevity -- Research ,Health ,Seniors - Abstract
Background. The relationship between parity and life span is uncertain, with evidence of both positive and negative relationships being reported previously. We evaluated this issue by using genealogical data from Old Order Amish community iii Lancaster. Pennsylvania, a population characterized by large nuclear families, homogeneous lifestyle, and extensive genealogical records. Methods. The analysis was restricted to the set of 2015 individuals who had children, were born between 1749 and 1912, and survived until at least age 50 years. Pedigree structures and birth and death dates were extracted from Amish genealogies, and the relationship between parity and longevity was examined using a variance component framework. Results. Life span of fathers increased in linear fashion with increasing number of children (0.23 years per additional Child; p = .01), while life span of mothers increased linearly up to 14 children (0.32 years per additional child: p = .004) but decreased with each additional child beyond 14 (p .0004). Among women, but not men, a later age at last birth was associated with longer life span (p = .001). Adjusting for age at last birth obliterated the correlation between maternal life span and number of children, except among mothers with ultrahigh (>14 children) parity. Conclusions. We conclude that high parity among men and later menopause among women may be markers for increased life span. Understanding the biological and/or social factors mediating these relationships may provide insights into mechanicals underlying successful aging.
- Published
- 2006
59. Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm
- Author
-
Zheng, Hou-Feng, Duncan, Emma L, Yerges-Armstrong, Laura M, Eriksson, Joel, Bergström, Ulrica, Leo, Paul J, Leslie, William D, Goltzman, David, Blangero, John, Hanley, David A, Carless, Melanie A, Streeten, Elizabeth A, Lorentzon, Mattias, Brown, Matthew A, Spector, Tim D, Pettersson-Kymmer, Ulrika, Ohlsson, Claes, Mitchell, Braxton D, and Richards, J Brent
- Published
- 2013
- Full Text
- View/download PDF
60. Levodopa-Carbidopa Treatment and Falsely High Urinary Dopamine Levels
- Author
-
Chandrasekaran, Sruti, Ionica, Nicoleta, and Streeten, Elizabeth A.
- Published
- 2013
61. REDUCED PARATHYROID HORMONE STIMULATED 1α,25-DIHYDROXYVITAMIN D PRODUCTION IN VITAMIN D SUFFICIENT POSTMENOPAUSAL WOMEN WITH LOW BONE MASS AND IDIOPATHIC SECONDARY HYPERPARATHRYROIDISM
- Author
-
Streeten, Elizabeth A., Rogstad, Amy S., Flammer, Kristin M., Zarbalian, Kiarash, Ryan, Kathleen, Horwitz, Mara, Holick, Michael F., and Shelton, John
- Published
- 2013
- Full Text
- View/download PDF
62. Evaluating the heterogeneous effect of a modifiable risk factor on suicide: The case of vitamin D deficiency.
- Author
-
Zubizarreta, Jose R., Umhau, John C., Deuster, Patricia A., Brenner, Lisa A., King, Andrew J., Petukhova, Maria V., Sampson, Nancy A., Tizenberg, Boris, Upadhyaya, Sanjaya K., RachBeisel, Jill A., Streeten, Elizabeth A., Kessler, Ronald C., and Postolache, Teodor T.
- Subjects
SUICIDE risk factors ,VITAMIN D deficiency ,MACHINE learning - Abstract
Objectives: To illustrate the use of machine learning methods to search for heterogeneous effects of a target modifiable risk factor on suicide in observational studies. The illustration focuses on secondary analysis of a matched case‐control study of vitamin D deficiency predicting subsequent suicide. Methods: We describe a variety of machine learning methods to search for prescriptive predictors; that is, predictors of significant variation in the association between a target risk factor and subsequent suicide. In each case, the purpose is to evaluate the potential value of selective intervention on the target risk factor to prevent the outcome based on the provisional assumption that the target risk factor is causal. The approaches illustrated include risk modeling based on the super learner ensemble machine learning method, Least Absolute Shrinkage and Selection Operator (Lasso) penalized regression, and the causal forest algorithm. Results: The logic of estimating heterogeneous intervention effects is exposited along with the illustration of some widely used methods for implementing this logic. Conclusions: In addition to describing best practices in using the machine learning methods considered here, we close with a discussion of broader design and analysis issues in planning an observational study to investigate heterogeneous effects of a modifiable risk factor. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
63. CYP24A1 Mutations in Idiopathic Infantile Hypercalcemia
- Author
-
Streeten, Elizabeth A., Zarbalian, Kiarash, and Damcott, Coleen M.
- Published
- 2011
64. 197 - Pathophysiology of osteoporosis
- Author
-
Streeten, Elizabeth A., Jaimungal, Sarada, and Hochberg, Marc C.
- Published
- 2019
- Full Text
- View/download PDF
65. Prevalence, control, and treatment of diabetes, hypertension, and high cholesterol in the Amish
- Author
-
He, Shisi, primary, Ryan, Kathleen A, additional, Streeten, Elizabeth A, additional, McArdle, Patrick F, additional, Daue, Melanie, additional, Trubiano, Donna, additional, Rohrer, Yvonne, additional, Donnelly, Patrick, additional, Drolet, Maryann, additional, Newcomer, Sylvia, additional, Shaub, Susan, additional, Weitzel, Nancy, additional, Shuldiner, Alan R, additional, Pollin, Toni I, additional, and Mitchell, Braxton D, additional
- Published
- 2020
- Full Text
- View/download PDF
66. Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma
- Author
-
Kachroo, Priyadarshini, primary, Hecker, Julian, additional, Chawes, Bo L., additional, Ahluwalia, Tarunveer S., additional, Cho, Michael H., additional, Qiao, Dandi, additional, Kelly, Rachel S., additional, Chu, Su H., additional, Virkud, Yamini V., additional, Huang, Mengna, additional, Barnes, Kathleen C., additional, Burchard, Esteban G., additional, Eng, Celeste, additional, Hu, Donglei, additional, Celedón, Juan C., additional, Daya, Michelle, additional, Levin, Albert M., additional, Gui, Hongsheng, additional, Williams, L. Keoki, additional, Forno, Erick, additional, Mak, Angel C.Y., additional, Avila, Lydiana, additional, Soto-Quiros, Manuel E., additional, Cloutier, Michelle M., additional, Acosta-Pérez, Edna, additional, Canino, Glorisa, additional, Bønnelykke, Klaus, additional, Bisgaard, Hans, additional, Raby, Benjamin A., additional, Lange, Christoph, additional, Weiss, Scott T., additional, Lasky-Su, Jessica A., additional, Abe, Namiko, additional, Abecasis, Goncalo, additional, Albert, Christine, additional, Palmer Allred, Nicholette (Nichole), additional, Almasy, Laura, additional, Alonso, Alvaro, additional, Ament, Seth, additional, Anderson, Peter, additional, Anugu, Pramod, additional, Applebaum-Bowden, Deborah, additional, Arking, Dan, additional, Arnett, Donna K., additional, Ashley-Koch, Allison, additional, Aslibekyan, Stella, additional, Assimes, Tim, additional, Auer, Paul, additional, Avramopoulos, Dimitrios, additional, Barnard, John, additional, Barnes, Kathleen, additional, Barr, R. Graham, additional, Barron-Casella, Emily, additional, Beaty, Terri, additional, Becker, Diane, additional, Becker, Lewis, additional, Beer, Rebecca, additional, Begum, Ferdouse, additional, Beitelshees, Amber, additional, Benjamin, Emelia, additional, Bezerra, Marcos, additional, Bielak, Larry, additional, Bis, Joshua, additional, Blackwell, Thomas, additional, Blangero, John, additional, Boerwinkle, Eric, additional, Borecki, Ingrid, additional, Bowler, Russell, additional, Brody, Jennifer, additional, Broeckel, Ulrich, additional, Broome, Jai, additional, Bunting, Karen, additional, Burchard, Esteban, additional, Cardwell, Jonathan, additional, Carty, Cara, additional, Casaburi, Richard, additional, Casella, James, additional, Chaffin, Mark, additional, Chang, Christy, additional, Chasman, Daniel, additional, Chavan, Sameer, additional, Chen, Bo-Juen, additional, Chen, Wei-Min, additional, Chen, Yii-Der Ida, additional, Choi, Seung Hoan, additional, Chuang, Lee-Ming, additional, Chung, Mina, additional, Cornell, Elaine, additional, Correa, Adolfo, additional, Crandall, Carolyn, additional, Crapo, James, additional, Cupples, L. Adrienne, additional, Curran, Joanne, additional, Curtis, Jeffrey, additional, Custer, Brian, additional, Damcott, Coleen, additional, Darbar, Dawood, additional, Das, Sayantan, additional, David, Sean, additional, Davis, Colleen, additional, de Andrade, Mariza, additional, DeBaun, Michael, additional, Deka, Ranjan, additional, DeMeo, Dawn, additional, Devine, Scott, additional, Do, Ron, additional, Duan, Qing, additional, Duggirala, Ravi, additional, Durda, Peter, additional, Dutcher, Susan, additional, Eaton, Charles, additional, Ekunwe, Lynette, additional, Ellinor, Patrick, additional, Emery, Leslie, additional, Farber, Charles, additional, Farnam, Leanna, additional, Fingerlin, Tasha, additional, Flickinger, Matthew, additional, Fornage, Myriam, additional, Franceschini, Nora, additional, Fu, Mao, additional, Fullerton, Stephanie M., additional, Fulton, Lucinda, additional, Gabriel, Stacey, additional, Gan, Weiniu, additional, Gao, Yan, additional, Gass, Margery, additional, Gelb, Bruce, additional, Geng, Xiaoqi (Priscilla), additional, Germer, Soren, additional, Gignoux, Chris, additional, Gladwin, Mark, additional, Glahn, David, additional, Gogarten, Stephanie, additional, Gong, Da-Wei, additional, Goring, Harald, additional, Gu, C. Charles, additional, Guan, Yue, additional, Guo, Xiuqing, additional, Haessler, Jeff, additional, Hall, Michael, additional, Harris, Daniel, additional, Hawley, Nicola, additional, He, Jiang, additional, Heavner, Ben, additional, Heckbert, Susan, additional, Hernandez, Ryan, additional, Herrington, David, additional, Hersh, Craig, additional, Hidalgo, Bertha, additional, Hixson, James, additional, Hokanson, John, additional, Holly, Kramer, additional, Hong, Elliott, additional, Hoth, Karin, additional, (Agnes) Hsiung, Chao, additional, Huston, Haley, additional, Hwu, Chii Min, additional, Irvin, Marguerite Ryan, additional, Jackson, Rebecca, additional, Jain, Deepti, additional, Jaquish, Cashell, additional, Jhun, Min A., additional, Johnsen, Jill, additional, Johnson, Andrew, additional, Johnson, Craig, additional, Johnston, Rich, additional, Jones, Kimberly, additional, Kachroo, Priyadarshini, additional, Kang, Hyun Min, additional, Kaplan, Robert, additional, Kardia, Sharon, additional, Kathiresan, Sekar, additional, Kaufman, Laura, additional, Kelly, Shannon, additional, Kenny, Eimear, additional, Kessler, Michael, additional, Khan, Alyna, additional, Kinney, Greg, additional, Konkle, Barbara, additional, Kooperberg, Charles, additional, Krauter, Stephanie, additional, Lange, Ethan, additional, Lange, Leslie, additional, Laurie, Cathy, additional, Laurie, Cecelia, additional, LeBoff, Meryl, additional, Lee, Seunggeun Shawn, additional, Lee, Wen-Jane, additional, LeFaive, Jonathon, additional, Levine, David, additional, Levy, Dan, additional, Lewis, Joshua, additional, Li, Yun, additional, Lin, Honghuang, additional, Lin, Keng Han, additional, Liu, Simin, additional, Liu, Yongmei, additional, Loos, Ruth, additional, Lubitz, Steven, additional, Lunetta, Kathryn, additional, Luo, James, additional, Mahaney, Michael, additional, Make, Barry, additional, Manichaikul, Ani, additional, Manson, JoAnn, additional, Margolin, Lauren, additional, Martin, Lisa, additional, Mathai, Susan, additional, Mathias, Rasika, additional, McArdle, Patrick, additional, McDonald, Merry-Lynn, additional, McFarland, Sean, additional, McGarvey, Stephen, additional, Mei, Hao, additional, Meyers, Deborah A., additional, Mikulla, Julie, additional, Min, Nancy, additional, Minear, Mollie, additional, Minster, Ryan L., additional, Mitchell, Braxton, additional, Montasser, May E., additional, Musani, Solomon, additional, Mwasongwe, Stanford, additional, Mychaleckyj, Josyf C., additional, Nadkarni, Girish, additional, Naik, Rakhi, additional, Natarajan, Pradeep, additional, Nekhai, Sergei, additional, Nickerson, Deborah, additional, North, Kari, additional, O'Connell, Jeff, additional, O'Connor, Tim, additional, Ochs-Balcom, Heather, additional, Pankow, James, additional, Papanicolaou, George, additional, Parker, Margaret, additional, Parsa, Afshin, additional, Penchev, Sara, additional, Peralta, Juan Manuel, additional, Perez, Marco, additional, Perry, James, additional, Peters, Ulrike, additional, Peyser, Patricia, additional, Phillips, Lawrence S., additional, Phillips, Sam, additional, Pollin, Toni, additional, Post, Wendy, additional, Becker, Julia Powers, additional, Boorgula, Meher Preethi, additional, Preuss, Michael, additional, Prokopenko, Dmitry, additional, Psaty, Bruce, additional, Qasba, Pankaj, additional, Qin, Zhaohui, additional, Rafaels, Nicholas, additional, Raffield, Laura, additional, Ramachandran, Vasan, additional, Rao, D.C., additional, Rasmussen-Torvik, Laura, additional, Ratan, Aakrosh, additional, Redline, Susan, additional, Reed, Robert, additional, Regan, Elizabeth, additional, Reiner, Alex, additional, Rice, Ken, additional, Rich, Stephen, additional, Roden, Dan, additional, Roselli, Carolina, additional, Rotter, Jerome, additional, Ruczinski, Ingo, additional, Russell, Pamela, additional, Ruuska, Sarah, additional, Ryan, Kathleen, additional, Sakornsakolpat, Phuwanat, additional, Salimi, Shabnam, additional, Salzberg, Steven, additional, Sandow, Kevin, additional, Sankaran, Vijay, additional, Scheller, Christopher, additional, Schmidt, Ellen, additional, Schwander, Karen, additional, Schwartz, David, additional, Sciurba, Frank, additional, Seidman, Christine, additional, Seidman, Jonathan, additional, Sheehan, Vivien, additional, Shetty, Amol, additional, Shetty, Aniket, additional, Sheu, Wayne Hui-Heng, additional, Shoemaker, M. Benjamin, additional, Silver, Brian, additional, Silverman, Edwin, additional, Smith, Jennifer, additional, Smith, Josh, additional, Smith, Nicholas, additional, Smith, Tanja, additional, Smoller, Sylvia, additional, Snively, Beverly, additional, Sofer, Tamar, additional, Sotoodehnia, Nona, additional, Stilp, Adrienne, additional, Streeten, Elizabeth, additional, Sung, Yun Ju, additional, Su-Lasky, Jessica, additional, Sylvia, Jody, additional, Szpiro, Adam, additional, Sztalryd, Carole, additional, Taliun, Daniel, additional, Tang, Hua, additional, Taub, Margaret, additional, Taylor, Kent, additional, Taylor, Simeon, additional, Telen, Marilyn, additional, Thornton, Timothy A., additional, Tinker, Lesley, additional, Tirschwell, David, additional, Tiwari, Hemant, additional, Tracy, Russell, additional, Tsai, Michael, additional, Vaidya, Dhananjay, additional, VandeHaar, Peter, additional, Vrieze, Scott, additional, Walker, Tarik, additional, Wallace, Robert, additional, Walts, Avram, additional, Wan, Emily, additional, Wang, Fei Fei, additional, Watson, Karol, additional, Weeks, Daniel E., additional, Weir, Bruce, additional, Weiss, Scott, additional, Weng, Lu-Chen, additional, Willer, Cristen, additional, Williams, Kayleen, additional, Wilson, Carla, additional, Wilson, James, additional, Wong, Quenna, additional, Xu, Huichun, additional, Yanek, Lisa, additional, Yang, Ivana, additional, Yang, Rongze, additional, Zaghloul, Norann, additional, Zekavat, Maryam, additional, Zhang, Yingze, additional, Zhao, Snow Xueyan, additional, Zhao, Wei, additional, Zheng, Xiuwen, additional, Zhi, Degui, additional, Zhou, Xiang, additional, Zody, Michael, additional, and Zoellner, Sebastian, additional
- Published
- 2019
- Full Text
- View/download PDF
67. Bone as a classic endocrine organ: Interactions with non-bone tissues
- Author
-
Streeten, Elizabeth A.
- Published
- 2015
- Full Text
- View/download PDF
68. The burden of pathogenic variants in clinically actionable genes in a founder population.
- Author
-
Lynch, Megan T., Maloney, Kristin A., Pollin, Toni I., Streeten, Elizabeth A., Xu, Huichun, Shuldiner, Alan R., Van Hout, Cristopher V., Gonzaga‐Jauregui, Claudia, and Mitchell, Braxton D.
- Abstract
Founder populations may be enriched with certain genetic variants of high clinical impact compared to nonfounder populations due to bottleneck events and genetic drift. Using exome sequencing (ES), we quantified the load of pathogenic variants that may be clinically actionable in 6136 apparently healthy adults living in the Lancaster, PA Old Order Amish settlement. We focused on variants in 78 genes deemed clinically actionable by the American College of Medical Genetics and Genomics (ACMG) or Geisinger's MyCode Health Initiative. ES revealed 3191 total variants among these genes including 480 nonsynonymous variants. After quality control and filtering, we applied the ACMG/AMP guidelines for variant interpretation and classified seven variants, across seven genes, as either pathogenic or likely pathogenic. Through genetic drift, all seven variants, are highly enriched in the Amish compared to nonfounder populations. In total, 14.7% of Lancaster Amish individuals carry at least one of these variants, largely explained by the 13% who harbor a copy of a single variant in APOB. Other studies report combined frequencies of pathogenic/likely pathogenic (P/LP) variants in actionable genes between 2.0% and 6.2% in outbred populations. The Amish population harbors fewer actionable variants compared to similarly characterized nonfounder populations but have a higher frequency of each variant identified, offering opportunities for efficient and cost‐effective targeted precision medicine. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
69. Hyperparathyroidism, Primary
- Author
-
Streeten, Elizabeth A., primary and Levine, Michael A., additional
- Published
- 2004
- Full Text
- View/download PDF
70. Prevalence and significance of vitamin D deficiency in multiple myeloma patients
- Author
-
Badros, Ashraf, Goloubeva, Olga, Terpos, Evangelos, Milliron, Todd, Baer, Maria R., and Streeten, Elizabeth
- Published
- 2008
71. CORONARY ARTERY CALCIFICATION IN PATIENTS WITH PRIMARY HYPERPARATHYROIDISM IN COMPARISON WITH CONTROL SUBJECTS FROM THE MULTI-ETHNIC STUDY OF ATHEROSCLEROSIS
- Author
-
Streeten, Elizabeth A., Munir, Kashif, Hines, Scott, Mohamed, Asif, Mangano, Charles, Ryan, Kathleen A., and Post, Wendy
- Published
- 2008
72. THE INPATIENT CONSULTATION APPROACH TO OSTEOPOROSIS TREATMENT IN PATIENTS WITH A FRACTURE: IS AUTOMATIC CONSULTATION NEEDED?
- Author
-
STREETEN, ELIZABETH A., MOHAMED, ASIF, GANDHI, AMISH, ORWIG, DENISE, SACK, PAUL, STERLING, ROBERT, and PELLEGRINI, VINCENT D., JR
- Published
- 2006
73. The Relationship between Parity and Bone Mineral Density in Women Characterized by a Homogeneous Lifestyle and High Parity
- Author
-
Streeten, Elizabeth A., Ryan, Kathleen A., McBride, Daniel J., Pollin, Toni I., Shuldiner, Alan R., and Mitchell, Braxton D.
- Published
- 2005
74. Disentangling the genetics of lean mass
- Author
-
Karasik, David, Zillikens, M. Carola, Hsu, Yi-Hsiang, Aghdassi, Ali, Akesson, Kristina, Amin, Najaf, Barroso, Ines, Bennett, David A., Bertram, Lars, Bochud, Murielle, Borecki, Ingrid B., Broer, Linda, Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos-Obando, Natalia, Cauley, Jane A., Cawthon, Peggy M., Chambers, John C., Chen, Zhao, Cho, Nam H., Choi, Hyung Jin, Chou, Wen-Chi, Cummings, Steven R., de Groot, Lisette C. P. G. M., De Jager, Phillip L., Demuth, Ilja, Diatchenko, Luda, Econs, Michael J., Eiriksdottir, Gudny, Enneman, Anke W., Eriksson, Joel, Eriksson, Johan G., Estrada, Karol, Evans, Daniel S., Feitosa, Mary F., Fu, Mao, Gieger, Christian, Grallert, Harald, Gudnason, Vilmundur, Lenore, Launer J., Hayward, Caroline, Hofman, Albert, Homuth, Georg, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Johnson, Toby, Biffar, Reiner, Jordan, Joanne M., Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpelainen, Tuomas O., Klopp, Norman, Kloth, Jacqueline S. L., Koller, Daniel L., Kooner, Jaspal S., Kraus, William E., Kritchevsky, Stephen, Kutalik, Zoltan, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Lerch, Markus M., Lewis, Joshua R., Lill, Christina, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Livshits, Gregory, Ljunggren, Östen, Loos, Ruth J. F., Lorentzon, Mattias, Luan, Jian'an, Luben, Robert N., Malkin, Ida, McGuigan, Fiona E., Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellstrom, Dan, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Nethander, Maria, Newman, Anne B., O'Connell, Jeffery R., Oostra, Ben A., Orwoll, Eric S., Palotie, Aarno, Peacock, Munro, Perola, Markus, Peters, Annette, Prince, Richard L., Psaty, Bruce M., Raikkonen, Katri, Ralston, Stuart H., Ripatti, Samuli, Rivadeneira, Fernando, Robbins, John A., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schipf, Sabine, Shin, Chan Soo, Smith, Albert V., Smith, Shad B., Soranzo, Nicole, Spector, Timothy D., Stancakova, Alena, Stefansson, Kari, Steinhagen-Thiessen, Elisabeth, Stolk, Lisette, Streeten, Elizabeth A., Styrkarsdottir, Unnur, Swart, Karin M. A., Thompson, Patricia, Thomson, Cynthia A., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J., Uitterlinden, Andre G., van Duijn, Cornelia M., van Schoor, Natasja M., Vandenput, Liesbeth, Vollenweider, Peter, Volzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Wareham, Nicholas J., Waterworth, Dawn, Weedon, Michael N., Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M. K., Wilson, James F., Wright, Nicole C., Yerges-Armstrong, Laura M., Yu, Lei, Zhang, Weihua, Zhao, Jing Hua, Zhou, Yanhua, Nielson, Carrie M., Harris, Tamara B., Demissie, Serkalem, Kiel, Douglas P., Ohlsson, Claes, Karasik, David, Zillikens, M. Carola, Hsu, Yi-Hsiang, Aghdassi, Ali, Akesson, Kristina, Amin, Najaf, Barroso, Ines, Bennett, David A., Bertram, Lars, Bochud, Murielle, Borecki, Ingrid B., Broer, Linda, Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos-Obando, Natalia, Cauley, Jane A., Cawthon, Peggy M., Chambers, John C., Chen, Zhao, Cho, Nam H., Choi, Hyung Jin, Chou, Wen-Chi, Cummings, Steven R., de Groot, Lisette C. P. G. M., De Jager, Phillip L., Demuth, Ilja, Diatchenko, Luda, Econs, Michael J., Eiriksdottir, Gudny, Enneman, Anke W., Eriksson, Joel, Eriksson, Johan G., Estrada, Karol, Evans, Daniel S., Feitosa, Mary F., Fu, Mao, Gieger, Christian, Grallert, Harald, Gudnason, Vilmundur, Lenore, Launer J., Hayward, Caroline, Hofman, Albert, Homuth, Georg, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Johnson, Toby, Biffar, Reiner, Jordan, Joanne M., Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpelainen, Tuomas O., Klopp, Norman, Kloth, Jacqueline S. L., Koller, Daniel L., Kooner, Jaspal S., Kraus, William E., Kritchevsky, Stephen, Kutalik, Zoltan, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Lerch, Markus M., Lewis, Joshua R., Lill, Christina, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Livshits, Gregory, Ljunggren, Östen, Loos, Ruth J. F., Lorentzon, Mattias, Luan, Jian'an, Luben, Robert N., Malkin, Ida, McGuigan, Fiona E., Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellstrom, Dan, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Nethander, Maria, Newman, Anne B., O'Connell, Jeffery R., Oostra, Ben A., Orwoll, Eric S., Palotie, Aarno, Peacock, Munro, Perola, Markus, Peters, Annette, Prince, Richard L., Psaty, Bruce M., Raikkonen, Katri, Ralston, Stuart H., Ripatti, Samuli, Rivadeneira, Fernando, Robbins, John A., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schipf, Sabine, Shin, Chan Soo, Smith, Albert V., Smith, Shad B., Soranzo, Nicole, Spector, Timothy D., Stancakova, Alena, Stefansson, Kari, Steinhagen-Thiessen, Elisabeth, Stolk, Lisette, Streeten, Elizabeth A., Styrkarsdottir, Unnur, Swart, Karin M. A., Thompson, Patricia, Thomson, Cynthia A., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J., Uitterlinden, Andre G., van Duijn, Cornelia M., van Schoor, Natasja M., Vandenput, Liesbeth, Vollenweider, Peter, Volzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Wareham, Nicholas J., Waterworth, Dawn, Weedon, Michael N., Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M. K., Wilson, James F., Wright, Nicole C., Yerges-Armstrong, Laura M., Yu, Lei, Zhang, Weihua, Zhao, Jing Hua, Zhou, Yanhua, Nielson, Carrie M., Harris, Tamara B., Demissie, Serkalem, Kiel, Douglas P., and Ohlsson, Claes
- Abstract
Background: Lean body mass (LM) plays an important role in mobility and metabolic function. We previously identified five loci associated with LM adjusted for fat mass in kilograms. Such an adjustment may reduce the power to identify genetic signals having an association with both lean mass and fat mass. Objectives: To determine the impact of different fat mass adjustments on genetic architecture of LM and identify additional LM loci. Methods: We performed genome-wide association analyses for whole-body LM (20 cohorts of European ancestry with n = 38,292) measured using dual-energy X-ray absorptiometry) or bioelectrical impedance analysis, adjusted for sex, age, age(2), and height with or without fat mass adjustments (Model 1 no fat adjustment; Model 2 adjustment for fat mass as a percentage of body mass; Model 3 adjustment for fat mass in kilograms). Results: Seven single-nucleotide polymorphisms (SNPs) in separate loci, including one novel LM locus (TNRC6B), were successfully replicated in an additional 47,227 individuals from 29 cohorts. Based on the strengths of the associations in Model 1 vs Model 3, we divided the LM loci into those with an effect on both lean mass and fat mass in the same direction and refer to those as "sumo wrestler" loci (FTO and MC4R). In contrast, loci with an impact specifically on LMwere termed "body builder" loci (VCAN and ADAMTSL3). Using existing available genome-wide association study databases, LM increasing alleles of SNPs in sumo wrestler loci were associated with an adverse metabolic profile, whereas LM increasing alleles of SNPs in "body builder" loci were associated with metabolic protection. Conclusions: In conclusion, we identified one novel LM locus (TNRC6B). Our results suggest that a genetically determined increase in lean mass might exert either harmful or protective effects on metabolic traits, depending on its relation to fat mass.
- Published
- 2019
- Full Text
- View/download PDF
75. KCNQ1 and Long QT Syndrome in 1/45 Amish
- Author
-
Streeten, Elizabeth A., See, Vincent Y., Jeng, Linda B.J., Maloney, Kristin A., Lynch, Megan, Glazer, Andrew M., Yang, Tao, Roden, Dan, Pollin, Toni I., Daue, Melanie, Ryan, Kathleen A., Van Hout, Cristopher, Gosalia, Nehal, Gonzaga-Jauregui, Claudia, Economides, Aris, Perry, James A., O’Connell, Jeffrey, Beitelshees, Amber, Palmer, Kathleen, Mitchell, Braxton D., and Shuldiner, Alan R
- Subjects
genetic counseling ,syncope ,ComputingMethodologies_DOCUMENTANDTEXTPROCESSING ,Original Articles ,human ,population health ,exome - Abstract
Supplemental Digital Content is available in the text., Background: In population-based research exome sequencing, the path from variant discovery to return of results is not well established. Variants discovered by research exome sequencing have the potential to improve population health. Methods: Population-based exome sequencing and agnostic ExWAS were performed 5521 Amish individuals. Additional phenotyping and in vitro studies enabled reclassification of a KCNQ1 variant from variant of unknown significance to pathogenic. Results were returned to participants in a community setting. Results: A missense variant was identified in KCNQ1 (c.671C>T, p.T224M), a gene associated with long QT syndrome type 1, which can cause syncope and sudden cardiac death. The p.T224M variant, present in 1/45 Amish individuals is rare in the general population (1/248 566 in gnomAD) and was highly associated with QTc on electro-cardiogram (P=5.53E-24, β=20.2 ms/allele). Because of the potential importance of this variant to the health of the population, additional phenotyping was performed in 88 p.T224M carriers and 54 noncarriers. There was stronger clinical evidence of long QT syndrome in carriers (38.6% versus 5.5%, P=0.0006), greater history of syncope (32% versus 17%, P=0.020), and higher rate of sudden cardiac death in first degree relatives
- Published
- 2020
76. Genome-wide Association Study in 79,366 European-ancestry Individuals Informs the Genetic Architecture of 25-Hydroxyvitamin D Levels
- Author
-
Jing, Xia, O'Reilly, Paul F., Aschard, Hugues, Hsu, Yi-Hsiang, Richards, J. Brent, Dupuis, Josée, Ingelsson, Erik, Karasik, David, Pilz, Stefan, Berry, Diane J, Kestenbaum, Bryan, Zheng, Jusheng, Luan, Jian'an, Sofianopoulou, Eleni, Streeten, Elizabeth A, Albanes, Demetrius, Lutsey, Pamela L., Yao, Lu, Tang, Weihong, Econs, Michael J., Wallaschofski, Henri, Volzke, Henry, Zhou, Ang, Power, Chris, McCarthy, Mark I, Michos, Erin D., Boerwinkle, Eric, Weinstein, Stephanie J., Freedman, Neal D, Huang, Wen-Yi, van Schoor, Natasja M., van der Velde, Nathalie, de Groot, Lisette C P G M, Enneman, Anke W, Adrienne Cupples, L., Booth, Sarah L., Vasan, Ramachandran S., Liu, Ching-Ti, Zhou, Yanhua, Ripatti, Samuli, Ohlsson, Claes, Vandenput, Liesbeth, Lorentzon, Mattias, Eriksson, Johan, Shea, M Kyla, Houston, Denise K, Kritchevsky, Stephen B., Liu, Yongmei, Lohman, Kurt, Ferrucci, Luigi, Peacock, Munro, Gieger, Christian, Beekman, Marian, Slagboom, P Eline, Deelen, Joris, van Heemst, Diana, Kleber, Marcus E, Marz, Winfried, de Boer, Ian H, Wood, Alexis C, Rotter, Jerome I., Rich, Stephen S., Robinson-Cohen, Cassianne, den Heijer, Martin, Jarvelin, Marjo-Riitta, Cavadino, Alana, Joshi, Peter, Wilson, James, Hayward, Caroline, Lind, Lars, Michaëlsson, Karl, Trompet, Stella, Zillikens, M Carola, Uitterlinden, Andre G., Rivadeneira, Fernando, Broer, Linda, Zgaga, Lina, Campbell, Harry, Theodoratou, Evropi, Farrington, Susan, Timofeeva, Maria, Dunlop, Malcolm, Valdes, Ana M., Tikkanen, Emmi, Lehtimaki, Terho, Lyytikäinen, Leo-Pekka, Kahonen, Mika, Raitakari, Olli T., Mikkila, Vera, Ikram, M Arfan, Sattar, Naveed, Jukema, J. Wouter, Wareham, Nicholas J., Langenberg, Claudia, Forouhi, Nita G., Gundersen, Thomas E, Khaw, Kay Tee, Butterworth, Adam S, Danesh, John, Spector, Timothy D., Wang, Thomas J., Hypponen, Elina, Kraft, Peter, and Kiel, Douglas P
- Abstract
Vitamin D is an essential fat soluble vitamin and steroid pro-hormone that plays an important role in musculoskeletal health. Vitamin D deficiency has been linked to autoimmune1,2 and infectious disease3, cardiovascular disease4, cancer5 and neurodegenerative conditions6. Serum 25-hydroxyvitamin D, a primary circulating form of vitamin D and a measure that best reflects vitamin D stores, is influenced by many factors including sun exposure, age, body mass index7, dietary intake of certain foods such as fortified dairy products and oily fish, supplements, and genetic factors8. The concentration of 25-hydroxyvitamin D has been reported to be highly heritable, with heritability estimates of 50%-80% from classical twin studies9,10.A genome-wide association study (GWAS) meta-analysis of serum 25-hydroxyvitamin D11 in 4,501 participants of European ancestry and replication in 2,221 samples identified variants in three loci (group component (GC), 7-dehydrochlesterol reductase (NADSYN1/DHCR7), and 25-hydroxylase (CYP2R1)). A larger GWAS conducted by the SUNLIGHT consortium in 16,125 European ancestry individuals, with a replication sample of 17,871, replicated these three loci and discovered one additional locus (CYP24A1)8. However, despite these loci being in or near genes encoding proteins involved in vitamin D synthesis, the associated variants collectively explain only a small fraction of the variance in 25-hydroxyvitamin D concentrations (~5%)8,11,12. Therefore, to extend our previous findings and better understand the genetic architecture underlying serum 25-hydroxyvitamin D, as well as test for interactions between dietary vitamin D intake and genetic factors, we conducted a large-scale GWAS meta-analysis on this important vitamin. Our GWAS with 79,366 discovery samples and 40,562 replication samples replicate four previous loci and identify two new genetic loci for serum levels of 25-hydrovxyvitamin D. We further find evidence for a shared genetic basis between circulating 25-hydroxyvitamin D and autoimmune diseases. Our analyses suggest a relatively modest SNP-heritability rate of 25-hydroxyvitamin D when considering only common variants. Larger studies are required to identify additional common SNPs, and to explore the role of rare or structural variants. The novel genetic instruments identified by our results could be used in future Mendelian Randomization analyses of the association between vitamin D and complex traits
- Published
- 2018
77. Meta‐Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry
- Author
-
Hsu, Yi‐Hsiang, primary, Estrada, Karol, additional, Evangelou, Evangelos, additional, Ackert‐Bicknell, Cheryl, additional, Akesson, Kristina, additional, Beck, Thomas, additional, Brown, Suzanne J, additional, Capellini, Terence, additional, Carbone, Laura, additional, Cauley, Jane, additional, Cheung, Ching‐Lung, additional, Cummings, Steven R, additional, Czerwinski, Stefan, additional, Demissie, Serkalem, additional, Econs, Michael, additional, Evans, Daniel, additional, Farber, Charles, additional, Gautvik, Kaare, additional, Harris, Tamara, additional, Kammerer, Candace, additional, Kemp, John, additional, Koller, Daniel L, additional, Kung, Annie, additional, Lawlor, Debbie, additional, Lee, Miryoung, additional, Lorentzon, Mattias, additional, McGuigan, Fiona, additional, Medina‐Gomez, Carolina, additional, Mitchell, Braxton, additional, Newman, Anne, additional, Nielson, Carrie, additional, Ohlsson, Claes, additional, Peacock, Munro, additional, Reppe, Sjur, additional, Richards, J Brent, additional, Robbins, John, additional, Sigurdsson, Gunnar, additional, Spector, Timothy D, additional, Stefansson, Kari, additional, Streeten, Elizabeth, additional, Styrkarsdottir, Unnur, additional, Tobias, Jonathan, additional, Trajanoska, Katerina, additional, Uitterlinden, André, additional, Vandenput, Liesbeth, additional, Wilson, Scott G, additional, Yerges‐Armstrong, Laura, additional, Young, Mariel, additional, Zillikens, M Carola, additional, Rivadeneira, Fernando, additional, Kiel, Douglas P, additional, and Karasik, David, additional
- Published
- 2019
- Full Text
- View/download PDF
78. Disentangling the genetics of lean mass
- Author
-
Karasik, David, primary, Zillikens, M Carola, additional, Hsu, Yi-Hsiang, additional, Aghdassi, Ali, additional, Akesson, Kristina, additional, Amin, Najaf, additional, Barroso, Inês, additional, Bennett, David A, additional, Bertram, Lars, additional, Bochud, Murielle, additional, Borecki, Ingrid B, additional, Broer, Linda, additional, Buchman, Aron S, additional, Byberg, Liisa, additional, Campbell, Harry, additional, Campos-Obando, Natalia, additional, Cauley, Jane A, additional, Cawthon, Peggy M, additional, Chambers, John C, additional, Chen, Zhao, additional, Cho, Nam H, additional, Choi, Hyung Jin, additional, Chou, Wen-Chi, additional, Cummings, Steven R, additional, de Groot, Lisette C P G M, additional, De Jager, Phillip L, additional, Demuth, Ilja, additional, Diatchenko, Luda, additional, Econs, Michael J, additional, Eiriksdottir, Gudny, additional, Enneman, Anke W, additional, Eriksson, Joel, additional, Eriksson, Johan G, additional, Estrada, Karol, additional, Evans, Daniel S, additional, Feitosa, Mary F, additional, Fu, Mao, additional, Gieger, Christian, additional, Grallert, Harald, additional, Gudnason, Vilmundur, additional, Lenore, Launer J, additional, Hayward, Caroline, additional, Hofman, Albert, additional, Homuth, Georg, additional, Huffman, Kim M, additional, Husted, Lise B, additional, Illig, Thomas, additional, Ingelsson, Erik, additional, Ittermann, Till, additional, Jansson, John-Olov, additional, Johnson, Toby, additional, Biffar, Reiner, additional, Jordan, Joanne M, additional, Jula, Antti, additional, Karlsson, Magnus, additional, Khaw, Kay-Tee, additional, Kilpeläinen, Tuomas O, additional, Klopp, Norman, additional, Kloth, Jacqueline S L, additional, Koller, Daniel L, additional, Kooner, Jaspal S, additional, Kraus, William E, additional, Kritchevsky, Stephen, additional, Kutalik, Zoltán, additional, Kuulasmaa, Teemu, additional, Kuusisto, Johanna, additional, Laakso, Markku, additional, Lahti, Jari, additional, Lang, Thomas, additional, Langdahl, Bente L, additional, Lerch, Markus M, additional, Lewis, Joshua R, additional, Lill, Christina, additional, Lind, Lars, additional, Lindgren, Cecilia, additional, Liu, Yongmei, additional, Livshits, Gregory, additional, Ljunggren, Östen, additional, Loos, Ruth J F, additional, Lorentzon, Mattias, additional, Luan, Jian'an, additional, Luben, Robert N, additional, Malkin, Ida, additional, McGuigan, Fiona E, additional, Medina-Gomez, Carolina, additional, Meitinger, Thomas, additional, Melhus, Håkan, additional, Mellström, Dan, additional, Michaëlsson, Karl, additional, Mitchell, Braxton D, additional, Morris, Andrew P, additional, Mosekilde, Leif, additional, Nethander, Maria, additional, Newman, Anne B, additional, O'Connell, Jeffery R, additional, Oostra, Ben A, additional, Orwoll, Eric S, additional, Palotie, Aarno, additional, Peacock, Munro, additional, Perola, Markus, additional, Peters, Annette, additional, Prince, Richard L, additional, Psaty, Bruce M, additional, Räikkönen, Katri, additional, Ralston, Stuart H, additional, Ripatti, Samuli, additional, Rivadeneira, Fernando, additional, Robbins, John A, additional, Rotter, Jerome I, additional, Rudan, Igor, additional, Salomaa, Veikko, additional, Satterfield, Suzanne, additional, Schipf, Sabine, additional, Shin, Chan Soo, additional, Smith, Albert V, additional, Smith, Shad B, additional, Soranzo, Nicole, additional, Spector, Timothy D, additional, Stančáková, Alena, additional, Stefansson, Kari, additional, Steinhagen-Thiessen, Elisabeth, additional, Stolk, Lisette, additional, Streeten, Elizabeth A, additional, Styrkarsdottir, Unnur, additional, Swart, Karin M A, additional, Thompson, Patricia, additional, Thomson, Cynthia A, additional, Thorleifsson, Gudmar, additional, Thorsteinsdottir, Unnur, additional, Tikkanen, Emmi, additional, Tranah, Gregory J, additional, Uitterlinden, André G, additional, van Duijn, Cornelia M, additional, van Schoor, Natasja M, additional, Vandenput, Liesbeth, additional, Vollenweider, Peter, additional, Völzke, Henry, additional, Wactawski-Wende, Jean, additional, Walker, Mark, additional, J Wareham, Nicholas, additional, Waterworth, Dawn, additional, Weedon, Michael N, additional, Wichmann, H-Erich, additional, Widen, Elisabeth, additional, Williams, Frances M K, additional, Wilson, James F, additional, Wright, Nicole C, additional, Yerges-Armstrong, Laura M, additional, Yu, Lei, additional, Zhang, Weihua, additional, Zhao, Jing Hua, additional, Zhou, Yanhua, additional, Nielson, Carrie M, additional, Harris, Tamara B, additional, Demissie, Serkalem, additional, Kiel, Douglas P, additional, and Ohlsson, Claes, additional
- Published
- 2019
- Full Text
- View/download PDF
79. Erratum:Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (Nature Communications (2017) 8:80 DOI: 10.1038/s41467-017-00031-7)
- Author
-
Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephen C J, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, and Kiel, Douglas P
- Subjects
Published Erratum - Abstract
The previously published version of this Article contained typographical errors in the spelling of the author names Stephen C. J. Parker and H.-Erich Wichmann, which were incorrectly given as Stephan Parker and H.-Erich Wichman, respectively. Furthermore, Affiliation 53 was incorrectly given as 'Research Group on Geriatrics, The Berlin Aging Study II, ChariteUniversitätsmedizin Berlin, Berlin 13353, Germany', Affiliation 66 was incorrectly given as 'Department of Botany & Plant Sciences, Institute for Integrative Genome Biology, University of California, Riverside, CA 92521, USA', and Affiliation 152 was incorrectly given as 'Group Health Research Institute, Group Health Cooperative, Seattle, WA 98101, USA'. These errors have been corrected in the PDF and HTML versions of the Article.
- Published
- 2017
80. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (vol 8, 80, 2017)
- Author
-
Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltan, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Zhao, Jing Hua, Zhang, Weihua, Aghdassi, Ali, Akesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Ines, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Obanda, Natalia Campos, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Choi, Hyung Jin, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpelanen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Osten, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Hakan, Mellstrom, Dan, Melov, Simon, Michaelsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephen CJ, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Raikkonen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Shin, Chan Soo, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stancakova, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin MA, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Volzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances MK, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Doring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, Andre G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth JF, Karasik, David, Harris, Tamara B, Ohlsson, Claes, and Kiel, Douglas P
- Published
- 2017
81. Localisation of mesenchymal tumours by somatostatin receptor imaging
- Author
-
de Beur, Suzanne M Jan, Streeten, Elizabeth A, Civelek, A Cahid, McCarthy, Edward F, Uribe, Liliana, Marx, Stephen J, Onobrakpeya, Olufunmilayo, Raisz, Lawrence G, Watts, Nelson B, Sharon, Michael, and Levine, Michael A
- Published
- 2002
- Full Text
- View/download PDF
82. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects: HUMAN MUTATION
- Author
-
Lessel, Davor, Lee, Lin, Palanduz, Sukru, Poke, Gemma, Yokote, Koutaro, Chateau, Antoinette, Angle, Brad, Schindler, Detlev, Posmyk, Renata, Cefle, Kivanc, Hay, Beverly, Watanabe, Aki, Deguchi, Kentaro, Nampoothiri, Sheela, Easwar, Baris, Hagit, Takemoto, Minoru, Ozturk, Sukru, Grebe, Theresa A., Koizumi, Naoko, Martin, George M., Kubisch, Christian, Eirich, Katharina, Mori, Takayasu, Ladd, Paula D., Oshima, Junko, Fox, Amy, Federico, Antonio, Streeten, Elizabeth, Chanprasert, Sirisak, Poot, Martin, Hisama, Fuki M., Seiter, Karen, and Piña-Aguilar, Raul E.
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,nutritional and metabolic diseases - Abstract
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimization of various aspects of DNA metabolism, including DNA repair, recombination, replication, and transcription. In this update, we summarize a total of 83 different WRN mutations, including eight previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of WS patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for WS patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation.
- Published
- 2017
- Full Text
- View/download PDF
83. Locally recurrent parathyroid neoplasms as a cause for recurrent and persistent primary hyperparathyroidism
- Author
-
Fraker, Douglas L., Travis, William D., Merendino, John J., Jr., Zimering, Mark B., Streeten, Elizabeth A., Weinstein, Lee S., Marx, Stephen J., Spiegel, Allen M., Aurbach, Gerald D., Doppman, John L., and Norton, Jeffrey A.
- Subjects
Calcium metabolism disorders -- Causes of ,Hyperparathyroidism -- Physiological aspects ,Endocrine gland tumors -- Complications ,Health - Abstract
Hyperparathyroidism is a condition of overactivity of one of the parathyroid glands that involves excess secretion of parathyroid hormone (PTH). It results in increased loss of calcium from bones and increased absorption of calcium by the kidneys and gastrointestinal system. The treatment for hyperparathyroidism is removal of parathyroid tumor. A small portion of patients undergoing primary (first) surgery for hyperparathyroidism have parathyroid cancer, which may recur. Local recurrence of a benign tumor is rare. Unfortunately, the diagnosis of cancer may not be made during primary surgery and sufficient tissue may not be removed. Reoperation on recurrent parathyroid tumors is technically difficult. A study was undertaken to evaluate 15 patients with locally recurrent parathyroid tumors who were treated over a 7-year period. This group represented 10.3 percent of 145 patients who underwent reoperation for hyperparathyroidism. Cancer was diagnosed in 4 patients, and adenoma (benign disease) in 11 patients with recurrent disease. Adenoma patients had longer disease-free intervals than cancer patients. All patients had symptoms at the time of reoperation; however, the cancer patients had more severe symptoms and higher calcium and PTH levels. Preoperative testing correctly identified the location of the tumor in 14 of 15 patients. During an average of 21 months of follow-up, all patients had normal calcium and PTH levels. These results indicate that aggressive surgery can control calcium levels in both benign and malignant recurrent parathyroid tumors. (Consumer Summary produced by Reliance Medical Information, Inc.)
- Published
- 1991
84. Rare coding variants and X-linked loci associated with age at menarche
- Author
-
Lunetta, Kathryn L, Day, Felix R, Sulem, Patrick, Ruth, Katherine S, Tung, Joyce Y, Hinds, David A, Esko, Tõnu, Elks, Cathy E, Altmaier, Elisabeth, He, Chunyan, Huffman, Jennifer E, Mihailov, Evelin, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M, Schick, Ursula M, Stolk, Lisette, Teumer, Alexander, Thompson, Deborah J, Traglia, Michela, Wang, Carol A, Yerges Armstrong, Laura M, Antoniou, Antonis C, Barbieri, Caterina, Coviello, Andrea D, Cucca, Francesco, Demerath, Ellen W, Dunning, Alison M, Gandin, Ilaria, Grove, Megan L, Gudbjartsson, Daniel F, Hocking, Lynne J, Hofman, Albert, Huang, Jinyan, Jackson, Rebecca D, Karasik, David, Kriebel, Jennifer, Lange, Ethan M, Lange, Leslie A, Langenberg, Claudia, Li, Xin, Luan, Jian'An, Mägi, Reedik, Morrison, Alanna C, Padmanabhan, Sandosh, Pirie, Ailith, Polasek, Ozren, Porteous, David, Reiner, Alex P, Rivadeneira, Fernando, Rudan, Igor, Sala, Cinzia F, Schlessinger, David, Scott, Robert A, Stöckl, Doris, Visser, Jenny A, Völker, Uwe, Vozzi, Diego, Wilson, James G, Zygmunt, Marek, Boerwinkle, Eric, Buring, Julie E, Crisponi, Laura, Easton, Douglas F, Hayward, Caroline, Hu, Frank B, Liu, Simin, Metspalu, Andres, Pennell, Craig E, Ridker, Paul M, Strauch, Konstantin, Streeten, Elizabeth A, Toniolo, Daniela, Uitterlinden, André G, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J, Wellons, Melissa, Franceschini, Nora, Chasman, Daniel I, Thorsteinsdottir, Unnur, Murray, Anna, Stefansson, Kari, Murabito, Joanne M, Ong, Ken K, Perry, John R. B., PANICO, SALVATORE, Lunetta, Kathryn L, Day, Felix R, Sulem, Patrick, Ruth, Katherine S, Tung, Joyce Y, Hinds, David A, Esko, Tõnu, Elks, Cathy E, Altmaier, Elisabeth, He, Chunyan, Huffman, Jennifer E, Mihailov, Evelin, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M, Schick, Ursula M, Stolk, Lisette, Teumer, Alexander, Thompson, Deborah J, Traglia, Michela, Wang, Carol A, Yerges Armstrong, Laura M, Antoniou, Antonis C, Barbieri, Caterina, Coviello, Andrea D, Cucca, Francesco, Demerath, Ellen W, Dunning, Alison M, Gandin, Ilaria, Grove, Megan L, Gudbjartsson, Daniel F, Hocking, Lynne J, Hofman, Albert, Huang, Jinyan, Jackson, Rebecca D, Karasik, David, Kriebel, Jennifer, Lange, Ethan M, Lange, Leslie A, Langenberg, Claudia, Li, Xin, Luan, Jian'An, Mägi, Reedik, Morrison, Alanna C, Padmanabhan, Sandosh, Pirie, Ailith, Polasek, Ozren, Porteous, David, Reiner, Alex P, Rivadeneira, Fernando, Rudan, Igor, Sala, Cinzia F, Schlessinger, David, Scott, Robert A, Stöckl, Dori, Visser, Jenny A, Völker, Uwe, Vozzi, Diego, Wilson, James G, Zygmunt, Marek, Boerwinkle, Eric, Buring, Julie E, Crisponi, Laura, Easton, Douglas F, Hayward, Caroline, Hu, Frank B, Liu, Simin, Metspalu, Andre, Pennell, Craig E, Ridker, Paul M, Strauch, Konstantin, Streeten, Elizabeth A, Toniolo, Daniela, Uitterlinden, André G, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J, Wellons, Melissa, Franceschini, Nora, Chasman, Daniel I, Thorsteinsdottir, Unnur, Murray, Anna, Stefansson, Kari, Murabito, Joanne M, Ong, Ken K, Perry, John R. B., and Panico, Salvatore
- Subjects
Adult ,Amide ,Adolescent ,Genotype ,European Continental Ancestry Group ,Mutation, Missense ,Penetrance ,RNA-Binding Protein ,Young Adult ,Gene Frequency ,Autoantigen ,Genes, X-Linked ,Immunoglobulin ,Age Factor ,Membrane Protein ,Aged ,Menarche ,Chromosomes, Human, X ,Hypogonadism ,Protein ,Genetic Variation ,Receptors, Neurokinin-3 ,Middle Aged ,Phenotype ,Codon, Nonsense ,Female ,RNA Interference ,Laminin ,Energy Metabolism ,AMP-Activated Protein Kinase ,Fatty Acid ,Human ,Signal Transduction - Abstract
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P
- Published
- 2015
85. 199 - Fisiopatologia da osteoporose
- Author
-
STREETEN, ELIZABETH A., JAIMUNGAL, SARADA, and HOCHBERG, MARC C.
- Published
- 2016
86. Surveillance results and bone effects in the Gulf War depleted uranium-exposed cohort
- Author
-
McDiarmid, Melissa A, primary, Cloeren, Marianne, additional, Gaitens, Joanna M, additional, Hines, Stella, additional, Streeten, Elizabeth, additional, Breyer, Richard J., additional, Brown, Clayton H., additional, Condon, Marian, additional, Roth, Tracy, additional, Oliver, Marc, additional, Brown, Lawrence, additional, Dux, Moira, additional, Lewin-Smith, Michael R., additional, Strathmann, Frederick, additional, Velez-Quinones, Maria A., additional, and Gucer, Patricia, additional
- Published
- 2018
- Full Text
- View/download PDF
87. Evaluation of WISP1 as a candidate gene for bone mineral density in the Old Order Amish
- Author
-
Wang, Xing, primary, Salimi, Shabnam, additional, Deng, Zhongliang, additional, Perry, James, additional, Ryan, Kathleen A., additional, Li, Zhizhen, additional, Liu, Dongfang, additional, Streeten, Elizabeth, additional, Shuldiner, Alan R., additional, and Fu, Mao, additional
- Published
- 2018
- Full Text
- View/download PDF
88. A rare case of type-2 familial partial lipodystrophy (FLD type 2) non-Dunnigan type with laminin A/C gene (LMNA) mutation causing multi-organ failure and diabetes mellitus
- Author
-
Frunza-Stefan, Simona, primary, Memon, Raafia, additional, Malek, Rana, additional, Streeten, Elizabeth, additional, Pollin, Toni, additional, and Silver, Kristi, additional
- Published
- 2018
- Full Text
- View/download PDF
89. Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
- Author
-
Zillikens, M. Carola, primary, Demissie, Serkalem, additional, Hsu, Yi-Hsiang, additional, Yerges-Armstrong, Laura M., additional, Chou, Wen-Chi, additional, Stolk, Lisette, additional, Livshits, Gregory, additional, Broer, Linda, additional, Johnson, Toby, additional, Koller, Daniel L., additional, Kutalik, Zoltán, additional, Luan, Jian’an, additional, Malkin, Ida, additional, Ried, Janina S., additional, Smith, Albert V., additional, Thorleifsson, Gudmar, additional, Vandenput, Liesbeth, additional, Hua Zhao, Jing, additional, Zhang, Weihua, additional, Aghdassi, Ali, additional, Åkesson, Kristina, additional, Amin, Najaf, additional, Baier, Leslie J., additional, Barroso, Inês, additional, Bennett, David A., additional, Bertram, Lars, additional, Biffar, Rainer, additional, Bochud, Murielle, additional, Boehnke, Michael, additional, Borecki, Ingrid B., additional, Buchman, Aron S., additional, Byberg, Liisa, additional, Campbell, Harry, additional, Campos Obanda, Natalia, additional, Cauley, Jane A., additional, Cawthon, Peggy M., additional, Cederberg, Henna, additional, Chen, Zhao, additional, Cho, Nam H., additional, Jin Choi, Hyung, additional, Claussnitzer, Melina, additional, Collins, Francis, additional, Cummings, Steven R., additional, De Jager, Philip L., additional, Demuth, Ilja, additional, Dhonukshe-Rutten, Rosalie A. M., additional, Diatchenko, Luda, additional, Eiriksdottir, Gudny, additional, Enneman, Anke W., additional, Erdos, Mike, additional, Eriksson, Johan G., additional, Eriksson, Joel, additional, Estrada, Karol, additional, Evans, Daniel S., additional, Feitosa, Mary F., additional, Fu, Mao, additional, Garcia, Melissa, additional, Gieger, Christian, additional, Girke, Thomas, additional, Glazer, Nicole L., additional, Grallert, Harald, additional, Grewal, Jagvir, additional, Han, Bok-Ghee, additional, Hanson, Robert L., additional, Hayward, Caroline, additional, Hofman, Albert, additional, Hoffman, Eric P., additional, Homuth, Georg, additional, Hsueh, Wen-Chi, additional, Hubal, Monica J., additional, Hubbard, Alan, additional, Huffman, Kim M., additional, Husted, Lise B., additional, Illig, Thomas, additional, Ingelsson, Erik, additional, Ittermann, Till, additional, Jansson, John-Olov, additional, Jordan, Joanne M., additional, Jula, Antti, additional, Karlsson, Magnus, additional, Khaw, Kay-Tee, additional, Kilpeläinen, Tuomas O., additional, Klopp, Norman, additional, Kloth, Jacqueline S. L., additional, Koistinen, Heikki A., additional, Kraus, William E., additional, Kritchevsky, Stephen, additional, Kuulasmaa, Teemu, additional, Kuusisto, Johanna, additional, Laakso, Markku, additional, Lahti, Jari, additional, Lang, Thomas, additional, Langdahl, Bente L., additional, Launer, Lenore J., additional, Lee, Jong-Young, additional, Lerch, Markus M., additional, Lewis, Joshua R., additional, Lind, Lars, additional, Lindgren, Cecilia, additional, Liu, Yongmei, additional, Liu, Tian, additional, Liu, Youfang, additional, Ljunggren, Östen, additional, Lorentzon, Mattias, additional, Luben, Robert N., additional, Maixner, William, additional, McGuigan, Fiona E., additional, Medina-Gomez, Carolina, additional, Meitinger, Thomas, additional, Melhus, Håkan, additional, Mellström, Dan, additional, Melov, Simon, additional, Michaëlsson, Karl, additional, Mitchell, Braxton D., additional, Morris, Andrew P., additional, Mosekilde, Leif, additional, Newman, Anne, additional, Nielson, Carrie M., additional, O’Connell, Jeffrey R., additional, Oostra, Ben A., additional, Orwoll, Eric S., additional, Palotie, Aarno, additional, Parker, Stephen C. J., additional, Peacock, Munro, additional, Perola, Markus, additional, Peters, Annette, additional, Polasek, Ozren, additional, Prince, Richard L., additional, Räikkönen, Katri, additional, Ralston, Stuart H., additional, Ripatti, Samuli, additional, Robbins, John A., additional, Rotter, Jerome I., additional, Rudan, Igor, additional, Salomaa, Veikko, additional, Satterfield, Suzanne, additional, Schadt, Eric E., additional, Schipf, Sabine, additional, Scott, Laura, additional, Sehmi, Joban, additional, Shen, Jian, additional, Soo Shin, Chan, additional, Sigurdsson, Gunnar, additional, Smith, Shad, additional, Soranzo, Nicole, additional, Stančáková, Alena, additional, Steinhagen-Thiessen, Elisabeth, additional, Streeten, Elizabeth A., additional, Styrkarsdottir, Unnur, additional, Swart, Karin M. A., additional, Tan, Sian-Tsung, additional, Tarnopolsky, Mark A., additional, Thompson, Patricia, additional, Thomson, Cynthia A., additional, Thorsteinsdottir, Unnur, additional, Tikkanen, Emmi, additional, Tranah, Gregory J., additional, Tuomilehto, Jaakko, additional, van Schoor, Natasja M., additional, Verma, Arjun, additional, Vollenweider, Peter, additional, Völzke, Henry, additional, Wactawski-Wende, Jean, additional, Walker, Mark, additional, Weedon, Michael N., additional, Welch, Ryan, additional, Wichmann, H.-Erich, additional, Widen, Elisabeth, additional, Williams, Frances M. K., additional, Wilson, James F., additional, Wright, Nicole C., additional, Xie, Weijia, additional, Yu, Lei, additional, Zhou, Yanhua, additional, Chambers, John C., additional, Döring, Angela, additional, van Duijn, Cornelia M., additional, Econs, Michael J., additional, Gudnason, Vilmundur, additional, Kooner, Jaspal S., additional, Psaty, Bruce M., additional, Spector, Timothy D., additional, Stefansson, Kari, additional, Rivadeneira, Fernando, additional, Uitterlinden, André G., additional, Wareham, Nicholas J., additional, Ossowski, Vicky, additional, Waterworth, Dawn, additional, Loos, Ruth J. F., additional, Karasik, David, additional, Harris, Tamara B., additional, Ohlsson, Claes, additional, and Kiel, Douglas P., additional
- Published
- 2017
- Full Text
- View/download PDF
90. Erratum : Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
- Author
-
Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephen C J, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, Kiel, Douglas P, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephen C J, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, and Kiel, Douglas P
- Abstract
A correction to this article has been published and is linked from the publisher´s HTML version of the article.
- Published
- 2017
- Full Text
- View/download PDF
91. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
- Author
-
Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephan, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, Kiel, Douglas P, Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephan, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, and Kiel, Douglas P
- Abstract
Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 × 10(-8)) or suggestively genome wide (p < 2.3 × 10(-6)). Replication in 63,475 (47,227 of European ancestry) individuals from 33 cohorts for whole body lean body mass and in 45,090 (42,360 of European ancestry) subjects from 25 cohorts for appendicular lean body mass was successful for five single-nucleotide polymorphisms in/near HSD17B11, VCAN, ADAMTSL3, IRS1, and FTO for total lean body mass and for three single-nucleotide polymorphisms in/near VCAN, ADAMTSL3, and IRS1 for appendicular lean body mass. Our findings provide new insight into the genetics of lean body mass.Lean body mass is a highly heritable trait and is associated with various health conditions. Here, Kiel and colleagues perform a meta-analysis of genome-wide association studies for whole body lean body mass and find five novel genetic loci to be significantly associated.
- Published
- 2017
92. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
- Author
-
Zillikens, M.C., Demissie, Serkalem, Hsu, Yi Hsiang, Yerges-Armstrong, Laura M., Chou, Wen Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L., Kutalik, Zoltán, Luan, J.A., Malkin, Ida, Ried, Janina S., Smith, Albert V., Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J., Barroso, Inês, Bennett, David A., Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B., Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A., Cawthon, Peggy M., Cederberg, Henna, Chen, Zhao, Cho, Nam H., Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R., De Jager, Philip L., Demuth, Ilja, Dhonukshe-Rutten, Rosalie A.M., DIatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W., Erdos, Mike, Eriksson, Johan G., Eriksson, Joel, Estrada, Karol, Evans, Daniel S., Feitosa, Mary F., Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L., Grallert, Harald, Grewal, Jagvir, Han, Bok Ghee, Hanson, Robert L., Hayward, Caroline, Hofman, Albert, Hoffman, Eric P., Homuth, Georg, Hsueh, Wen Chi, Hubal, Monica J., Hubbard, Alan, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John Olov, Jordan, Joanne M., Jula, Antti, Karlsson, Magnus, Khaw, Kay Tee, Kilpelaïnen, Tuomas O., Klopp, Norman, Kloth, Jacqueline S.L., Koistinen, Heikki A., Kraus, William E., Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Launer, Lenore J., Lee, Jong Young, Lerch, Markus M., Lewis, Joshua R., Lind, Lars, Lindgren, Cecilia M., Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N., Maixner, William, McGuigan, Fiona E., Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Newman, Anne, Nielson, Carrie M., O'Connell, Jeffrey R., Oostra, Ben A., Orwoll, Eric S., Palotie, Aarno, Parker, Stephan, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L., Raïkkönen, Katri, Ralston, Stuart H., Ripatti, Samuli, Robbins, John A., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E., Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A., Styrkarsdottir, Unnur, Swart, Karin M.A., Tan, Sian Tsung, Tarnopolsky, Mark A., Thompson, Patricia, Thomson, Cynthia A., Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J., Tuomilehto, Jaakko, van Schoor, Natasja M., Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N., Welch, Ryan, Wichman, H.E., Widen, Elisabeth, Williams, Frances M.K., Wilson, James F., Wright, Nicole C., Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C., Döring, Angela, Van Duijn, Cornelia M., Econs, Michael J., Gudnason, Vilmundur, Kooner, Jaspal S., Psaty, Bruce M., Spector, Timothy D., Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G., Wareham, Nicholas J., Ossowski, Vicky, Waterworth, Dawn M., Loos, Ruth J.F., Karasik, David, Harris, Tamara B., Ohlsson, Claes, Kiel, Douglas P., Zillikens, M.C., Demissie, Serkalem, Hsu, Yi Hsiang, Yerges-Armstrong, Laura M., Chou, Wen Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L., Kutalik, Zoltán, Luan, J.A., Malkin, Ida, Ried, Janina S., Smith, Albert V., Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J., Barroso, Inês, Bennett, David A., Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B., Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A., Cawthon, Peggy M., Cederberg, Henna, Chen, Zhao, Cho, Nam H., Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R., De Jager, Philip L., Demuth, Ilja, Dhonukshe-Rutten, Rosalie A.M., DIatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W., Erdos, Mike, Eriksson, Johan G., Eriksson, Joel, Estrada, Karol, Evans, Daniel S., Feitosa, Mary F., Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L., Grallert, Harald, Grewal, Jagvir, Han, Bok Ghee, Hanson, Robert L., Hayward, Caroline, Hofman, Albert, Hoffman, Eric P., Homuth, Georg, Hsueh, Wen Chi, Hubal, Monica J., Hubbard, Alan, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John Olov, Jordan, Joanne M., Jula, Antti, Karlsson, Magnus, Khaw, Kay Tee, Kilpelaïnen, Tuomas O., Klopp, Norman, Kloth, Jacqueline S.L., Koistinen, Heikki A., Kraus, William E., Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Launer, Lenore J., Lee, Jong Young, Lerch, Markus M., Lewis, Joshua R., Lind, Lars, Lindgren, Cecilia M., Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N., Maixner, William, McGuigan, Fiona E., Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Newman, Anne, Nielson, Carrie M., O'Connell, Jeffrey R., Oostra, Ben A., Orwoll, Eric S., Palotie, Aarno, Parker, Stephan, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L., Raïkkönen, Katri, Ralston, Stuart H., Ripatti, Samuli, Robbins, John A., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E., Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A., Styrkarsdottir, Unnur, Swart, Karin M.A., Tan, Sian Tsung, Tarnopolsky, Mark A., Thompson, Patricia, Thomson, Cynthia A., Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J., Tuomilehto, Jaakko, van Schoor, Natasja M., Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N., Welch, Ryan, Wichman, H.E., Widen, Elisabeth, Williams, Frances M.K., Wilson, James F., Wright, Nicole C., Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C., Döring, Angela, Van Duijn, Cornelia M., Econs, Michael J., Gudnason, Vilmundur, Kooner, Jaspal S., Psaty, Bruce M., Spector, Timothy D., Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G., Wareham, Nicholas J., Ossowski, Vicky, Waterworth, Dawn M., Loos, Ruth J.F., Karasik, David, Harris, Tamara B., Ohlsson, Claes, and Kiel, Douglas P.
- Abstract
Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 × 10-8) or suggestively genome wide (p < 2.3 × 10-6). Replication in 63,475 (47,227 of European ancestry) individuals from 33 cohorts for whole body lean body mass and in 45,090 (42,360 of European ancestry) subjects from 25 cohorts for appendicular lean body mass was successful for five single-nucleotide polymorphisms in/near HSD17B11, VCAN, ADAMTSL3, IRS1, and FTO for total lean body mass and for three single-nucleotide polymorphisms in/near VCAN, ADAMTSL3, and IRS1 for appendicular lean body mass. Our findings provide new insight into the genetics of lean body mass.
- Published
- 2017
93. Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
- Author
-
Zillikens, M.C., Demissie, Serkalem, Hsu, Yi Hsiang, Yerges-Armstrong, Laura M., Chou, Wen Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L., Kutalik, Zoltán, Luan, J., Malkin, Ida, Ried, Janina S., Smith, Albert V., Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J., Barroso, Inês, Bennett, David A., Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B., Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A., Cawthon, Peggy M., Cederberg, Henna, Chen, Zhao, Cho, Nam H., Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R., De Jager, Philip L., Demuth, Ilja, Dhonukshe-Rutten, Rosalie A.M., Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W., Erdos, Mike, Eriksson, Johan G., Eriksson, Joel, Estrada, Karol, Evans, Daniel S., Feitosa, Mary F., Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L., Grallert, Harald, Grewal, Jagvir, Han, Bok Ghee, Hanson, Robert L., Hayward, Caroline, Hofman, Albert, Hoffman, Eric P., Homuth, Georg, Hsueh, Wen Chi, Hubal, Monica J., Hubbard, Alan, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John Olov, Jordan, Joanne M., Jula, Antti, Karlsson, Magnus, Khaw, Kay Tee, Kilpeläinen, Tuomas O., Klopp, Norman, Kloth, Jacqueline S.L., Koistinen, Heikki A., Kraus, William E., Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Launer, Lenore J., Lee, Jong Young, Lerch, Markus M., Lewis, Joshua R., Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N., Maixner, William, McGuigan, Fiona E., Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Newman, Anne, Nielson, Carrie M., O'Connell, Jeffrey R., Oostra, Ben A., Orwoll, Eric S., Palotie, Aarno, Parker, Stephen C.J., Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L., Räikkönen, Katri, Ralston, Stuart H., Ripatti, Samuli, Robbins, John A., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E., Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A., Styrkarsdottir, Unnur, Swart, Karin M.A., Tan, Sian Tsung, Tarnopolsky, Mark A., Thompson, Patricia, Thomson, Cynthia A., Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J., Tuomilehto, Jaakko, van Schoor, Natasja M., Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N., Welch, Ryan, Wichmann, H.E., Widen, Elisabeth, Williams, Frances M.K., Wilson, James F., Wright, Nicole C., Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C., Döring, Angela, van Duijn, Cornelia M., Econs, Michael J., Gudnason, Vilmundur, Kooner, Jaspal S., Psaty, Bruce M., Spector, Timothy D., Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G., Wareham, Nicholas J., Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J.F., Karasik, David, Harris, Tamara B., Ohlsson, Claes, Kiel, Douglas P., Zillikens, M.C., Demissie, Serkalem, Hsu, Yi Hsiang, Yerges-Armstrong, Laura M., Chou, Wen Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L., Kutalik, Zoltán, Luan, J., Malkin, Ida, Ried, Janina S., Smith, Albert V., Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J., Barroso, Inês, Bennett, David A., Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B., Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A., Cawthon, Peggy M., Cederberg, Henna, Chen, Zhao, Cho, Nam H., Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R., De Jager, Philip L., Demuth, Ilja, Dhonukshe-Rutten, Rosalie A.M., Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W., Erdos, Mike, Eriksson, Johan G., Eriksson, Joel, Estrada, Karol, Evans, Daniel S., Feitosa, Mary F., Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L., Grallert, Harald, Grewal, Jagvir, Han, Bok Ghee, Hanson, Robert L., Hayward, Caroline, Hofman, Albert, Hoffman, Eric P., Homuth, Georg, Hsueh, Wen Chi, Hubal, Monica J., Hubbard, Alan, Huffman, Kim M., Husted, Lise B., Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John Olov, Jordan, Joanne M., Jula, Antti, Karlsson, Magnus, Khaw, Kay Tee, Kilpeläinen, Tuomas O., Klopp, Norman, Kloth, Jacqueline S.L., Koistinen, Heikki A., Kraus, William E., Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L., Launer, Lenore J., Lee, Jong Young, Lerch, Markus M., Lewis, Joshua R., Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N., Maixner, William, McGuigan, Fiona E., Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D., Morris, Andrew P., Mosekilde, Leif, Newman, Anne, Nielson, Carrie M., O'Connell, Jeffrey R., Oostra, Ben A., Orwoll, Eric S., Palotie, Aarno, Parker, Stephen C.J., Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L., Räikkönen, Katri, Ralston, Stuart H., Ripatti, Samuli, Robbins, John A., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E., Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A., Styrkarsdottir, Unnur, Swart, Karin M.A., Tan, Sian Tsung, Tarnopolsky, Mark A., Thompson, Patricia, Thomson, Cynthia A., Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J., Tuomilehto, Jaakko, van Schoor, Natasja M., Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N., Welch, Ryan, Wichmann, H.E., Widen, Elisabeth, Williams, Frances M.K., Wilson, James F., Wright, Nicole C., Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C., Döring, Angela, van Duijn, Cornelia M., Econs, Michael J., Gudnason, Vilmundur, Kooner, Jaspal S., Psaty, Bruce M., Spector, Timothy D., Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G., Wareham, Nicholas J., Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J.F., Karasik, David, Harris, Tamara B., Ohlsson, Claes, and Kiel, Douglas P.
- Abstract
A correction to this article has been published and is linked from the HTML version of this article.
- Published
- 2017
94. Extended Laminectomy for Spinal Stenosis in Achondroplasia
- Author
-
Streeten, Elizabeth, Uematsu, Sumio, Hurko, Orest, Kopits, Steven, Murphy, Edmund, Pyeritz, Reed, Nicoletti, Benedetto, editor, Kopits, Steven E., editor, Ascani, Elio, editor, McKusick, Victor A., editor, and Dryburgh, Shona C., editor
- Published
- 1988
- Full Text
- View/download PDF
95. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
- Author
-
Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña-Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, and Oshima, Junko
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Polymorphism, Genetic ,Werner Syndrome Helicase ,Geography ,Age Factors ,nutritional and metabolic diseases ,Exons ,Web Browser ,Polymorphism, Single Nucleotide ,Article ,Translational Research, Biomedical ,Disease Models, Animal ,Mice ,Phenotype ,Gene Frequency ,Japan ,Databases, Genetic ,Mutation ,Animals ,Humans ,Genetic Predisposition to Disease ,Registries ,Werner Syndrome ,Genetic Association Studies - Abstract
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimization of various aspects of DNA metabolism, including DNA repair, recombination, replication, and transcription. In this update, we summarize a total of 83 different WRN mutations, including eight previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of WS patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for WS patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation.
- Published
- 2016
96. Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci
- Author
-
Reppe, Sjur, Wang, Yunpeng, Thompson, Wesley K., McEvoy, Linda K., Schork, Andrew J., Zuber, Verena, LeBlanc, Marissa, Bettella, Francesco, Mills, Ian G., Desikan, Rahul S., Djurovic, Srdjan, Gautvik, Kaare M., Dale, Anders M., Andreassen, Ole A., Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi Hsiang, Duncan, Emma L., Ntzani, Evangelia E., Oei, Ling, Albagha, Omar M.E., Amin, Najaf, Kemp, John P., Koller, Daniel L., Li, Guo, Liu, Ching Ti, Minster, Ryan L., Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su Mei, Yerges-Armstrong, Laura M., Zheng, Hou Feng, Alonso, Nerea, Eriksson, Joel, Kammerer, Candace M., Kaptoge, Stephen K., Leo, Paul J., Thorleifsson, Gudmar, Wilson, Scott G., Wilson, James F., Aalto, Ville, Alen, Markku, Aragaki, Aaron K., Aspelund, Thor, Center, Jacqueline R., Dailiana, Zoe, Duggan, David J., Garcia, Melissa, Garcia-Giralt, Natàlia, Giroux, Sylvie, Hallmans, Göran, Hocking, Lynne J., Husted, Lise Bjerre, Jameson, Karen A., Khusainova, Rita, Kim, Ghi Su, Kooperberg, Charles, Koromila, Theodora, Kruk, Marcin, Laaksonen, Marika, Lacroix, Andrea Z., Lee, Seung Hun, Leung, Ping C., Lewis, Joshua R., Masi, Laura, Mencej-Bedrac, Simona, Nguyen, Tuan V., Nogues, Xavier, Patel, Millan S., Prezelj, Janez, Rose, Lynda M., Scollen, Serena, Siggeirsdottir, Kristin, Smith, Albert V., Svensson, Olle, Trompet, Stella, Trummer, Olivia, Van Schoor, Natasja M., Woo, Jean, Zhu, Kun, Balcells, Susana, Brandi, Maria Luisa, Buckley, Brendan M., Cheng, Sulin, Christiansen, Claus, Cooper, Cyrus, Dedoussis, George, Ford, Ian, Frost, Morten, Goltzman, David, González-Macías, Jesús, Kähönen, Mika, Karlsson, Magnus, Khusnutdinova, Elza, Koh, Jung Min, Kollia, Panagoula, Langdahl, Bente Lomholt, Leslie, William D., Lips, Paul, Ljunggren, Östen, Lorenc, Roman S., Marc, Janja, Mellström, Dan, Obermayer-Pietsch, Barbara, Olmos, José M., Pettersson-Kymmer, Ulrika, Reid, David M., Riancho, José A., Ridker, Paul M., Rousseau, François, Slagboom, P. Eline, Tang, Nelson L.S., Urreizti, Roser, Van Hul, Wim, Viikari, Jorma, Zarrabeitia, María T., Aulchenko, Yurii S., Castano-Betancourt, Martha, Grundberg, Elin, Herrera, Lizbeth, Ingvarsson, Thorvaldur, Johannsdottir, Hrefna, Kwan, Tony, Li, Rui, Luben, Robert, Medina-Gómez, Carolina, Palsson, Stefan Th, Rotter, Jerome I., Sigurdsson, Gunnar, Van Meurs, Joyce B.J., Verlaan, Dominique, Williams, Frances M.K., Wood, Andrew R., Zhou, Yanhua, Pastinen, Tomi, Raychaudhuri, Soumya, Cauley, Jane A., Chasman, Daniel I., Clark, Graeme R., Cummings, Steven R., Danoy, Patrick, Dennison, Elaine M., Eastell, Richard, Eisman, John A., Gudnason, Vilmundur, Hofman, Albert, Jackson, Rebecca D., Jones, Graeme, Jukema, J. Wouter, Khaw, Kay Tee, Lehtimäki, Terho, Liu, Yongmei, Lorentzon, Mattias, McCloskey, Eugene, Mitchell, Braxton D., Nandakumar, Kannabiran, Nicholson, Geoffrey C., Oostra, Ben A., Peacock, Munro, Pols, Huibert A.P., Prince, Richard L., Raitakari, Olli, Reid, Ian R., Robbins, John, Sambrook, Philip N., Sham, Pak Chung, Shuldiner, Alan R., Tylavsky, Frances A., Van Duijn, Cornelia M., Wareham, Nick J., Cupples, L. Adrienne, Econs, Michael J., Evans, David M., Harris, Tamara B., Kung, Annie Wai Chee, Psaty, Bruce M., Reeve, Jonathan, Spector, Timothy D., Streeten, Elizabeth A., Zillikens, M. Carola, Thorsteinsdottir, Unnur, Ohlsson, Claes, Karasik, David, Richards, J. Brent, Brown, Matthew A., Stefansson, Kari, Uitterlinden, André G., Ralston, Stuart H., Ioannidis, John P.A., Kiel, Douglas P., Rivadeneira, Fernando, Epidemiology and Data Science, EMGO - Musculoskeletal health, and Internal medicine
- Subjects
musculoskeletal diseases - Abstract
Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the suggestive comorbidity is still unknown. We used a novel genetic pleiotropy-informed conditional False Discovery Rate (FDR) method to identify single nucleotide polymorphisms (SNPs) associated with BMD by leveraging cardiovascular disease (CVD) associated disorders and metabolic traits. By conditioning on SNPs associated with the CVD-related phenotypes, type 1 diabetes, type 2 diabetes, systolic blood pressure, diastolic blood pressure, high density lipoprotein, low density lipoprotein, triglycerides and waist hip ratio, we identified 65 novel independent BMD loci (26 with femoral neck BMD and 47 with lumbar spine BMD) at conditional FDR < 0.01. Many of the loci were confirmed in genetic expression studies. Genes validated at the mRNA levels were characteristic for the osteoblast/osteocyte lineage, Wnt signaling pathway and bone metabolism. The results provide new insight into genetic mechanisms of variability in BMD, and a better understanding of the genetic underpinnings of clinical comorbidity.
- Published
- 2015
97. 199 - Pathophysiology of osteoporosis
- Author
-
Streeten, Elizabeth A., Jaimungal, Sarada, and Hochberg, Marc C.
- Published
- 2015
- Full Text
- View/download PDF
98. Chapter 41 - The Differential Diagnosis of Hypercalcemia
- Author
-
Streeten, Elizabeth A. and Jaimungal, Sarada
- Published
- 2015
- Full Text
- View/download PDF
99. When a Migraine Is Not a Migraine
- Author
-
Hurrell, Rowan J.W., primary and Streeten, Elizabeth A., additional
- Published
- 2017
- Full Text
- View/download PDF
100. Sex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis
- Author
-
Tise, Christina G., primary, Anforth, Leslie E., additional, Zhou, Albert E., additional, Perry, James A., additional, McArdle, Patrick F., additional, Streeten, Elizabeth A., additional, Shuldiner, Alan R., additional, and Yerges-Armstrong, Laura M., additional
- Published
- 2017
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.