584 results on '"Pollin, Toni I."'
Search Results
2. Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population
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Humphries, Elizabeth M., Ahn, Kwangmi, Kember, Rachel L., Lopes, Fabiana L., Mocci, Evelina, Peralta, Juan M., Blangero, John, Glahn, David C., Goes, Fernando S., Zandi, Peter P., Kochunov, Peter, Van Hout, Cristopher, Shuldiner, Alan R., Pollin, Toni I., Mitchell, Braxton D., Bucan, Maja, Hong, L. Elliot, McMahon, Francis J., and Ament, Seth A.
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- 2023
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3. Endocrinologic and Growth Cases: Diabetes
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Pollin, Toni I., primary
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- 2024
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4. Contributors
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Albokhari, Daniah, primary, Ayoubieh, Houriya, additional, Balwani, Manisha, additional, Barry, Jessica C., additional, Blagowidow, Natalie, additional, Bodurtha, Joann, additional, Bottini, Alexander, additional, Brewer, Takae M., additional, Brodie, Scott, additional, Brown, Emily E., additional, Bush, Lynn Wein, additional, Butterfield, Russell J., additional, Campbell, Kirk, additional, Clemens, Douglas K., additional, Corson, Virginia L., additional, Cytrynbaum, Cheryl, additional, Dedania, Vaidehi, additional, Diaz, George A., additional, Dietz, Harry C., additional, Dinulos, Mary Beth Palko, additional, Eng, Christine M., additional, Eng, Charis, additional, Fan, Audrey L., additional, Francomano, Clair A., additional, Frucht, Steven J., additional, Ganesh, Jaya, additional, Gelb, Bruce D., additional, Goduni, Lediana, additional, Gu, Shen, additional, Gupta, Isha, additional, Hagerman, Randi J., additional, Hall, Judith G., additional, Hoover-Fong, Julie, additional, Hudgins, Louanne, additional, Iverson, Ayuko, additional, Jabs, Ethylin Wang, additional, James, Cynthia A., additional, Jari, Shama, additional, Keppler-Noreuil, Kim M., additional, Kerr, Lynne M., additional, Kimball, Amy, additional, Kline, Antonie D., additional, Kline, Joel N., additional, Kritzer, Amy, additional, Lambert, Michele P., additional, Lew, Cheryl D., additional, Li, Shao-Tzu, additional, MacCarrick, Gretchen, additional, Matalon, Dena R., additional, McDonald-McGinn, Donna M., additional, McMahon, Francis J., additional, Meliambro, Kristin, additional, Moore, Rebekah A., additional, Murray, Brittney, additional, Newcomb, Tara, additional, Ngeow, Joanne, additional, Ogawa, Jessica, additional, Patel, Dhruv K., additional, Pollin, Toni I., additional, Prasun, Pankaj, additional, Puliaiev, Maksym, additional, Pyeritz, Reed E., additional, Rasmussen, Sonja A., additional, Riboldi, Giulietta Maria, additional, Schecter, Scott M., additional, Scheuerle, Angela E., additional, Scott, Stuart A., additional, Shankar, Suma, additional, Slavotinek, Anne, additional, Smith-Hicks, Constance L., additional, Stewart, Rosalyn W., additional, Trandafir, Cristina, additional, Triano, Vivian Narcisa, additional, Vernon, Hilary J., additional, Wasserstein, Melissa P., additional, Webb, Bryn D., additional, Weksberg, Rosanna, additional, and Yuan, Bo, additional
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- 2024
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5. Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
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Tobias, Deirdre K., Merino, Jordi, Ahmad, Abrar, Aiken, Catherine, Benham, Jamie L., Bodhini, Dhanasekaran, Clark, Amy L., Colclough, Kevin, Corcoy, Rosa, Cromer, Sara J., Duan, Daisy, Felton, Jamie L., Francis, Ellen C., Gillard, Pieter, Gingras, Véronique, Gaillard, Romy, Haider, Eram, Hughes, Alice, Ikle, Jennifer M., Jacobsen, Laura M., Kahkoska, Anna R., Kettunen, Jarno L. T., Kreienkamp, Raymond J., Lim, Lee-Ling, Männistö, Jonna M. E., Massey, Robert, Mclennan, Niamh-Maire, Miller, Rachel G., Morieri, Mario Luca, Most, Jasper, Naylor, Rochelle N., Ozkan, Bige, Patel, Kashyap Amratlal, Pilla, Scott J., Prystupa, Katsiaryna, Raghavan, Sridharan, Rooney, Mary R., Schön, Martin, Semnani-Azad, Zhila, Sevilla-Gonzalez, Magdalena, Svalastoga, Pernille, Takele, Wubet Worku, Tam, Claudia Ha-ting, Thuesen, Anne Cathrine B., Tosur, Mustafa, Wallace, Amelia S., Wang, Caroline C., Wong, Jessie J., Yamamoto, Jennifer M., Young, Katherine, Amouyal, Chloé, Andersen, Mette K., Bonham, Maxine P., Chen, Mingling, Cheng, Feifei, Chikowore, Tinashe, Chivers, Sian C., Clemmensen, Christoffer, Dabelea, Dana, Dawed, Adem Y., Deutsch, Aaron J., Dickens, Laura T., DiMeglio, Linda A., Dudenhöffer-Pfeifer, Monika, Evans-Molina, Carmella, Fernández-Balsells, María Mercè, Fitipaldi, Hugo, Fitzpatrick, Stephanie L., Gitelman, Stephen E., Goodarzi, Mark O., Grieger, Jessica A., Guasch-Ferré, Marta, Habibi, Nahal, Hansen, Torben, Huang, Chuiguo, Harris-Kawano, Arianna, Ismail, Heba M., Hoag, Benjamin, Johnson, Randi K., Jones, Angus G., Koivula, Robert W., Leong, Aaron, Leung, Gloria K. W., Libman, Ingrid M., Liu, Kai, Long, S. Alice, Lowe, Jr, William L., Morton, Robert W., Motala, Ayesha A., Onengut-Gumuscu, Suna, Pankow, James S., Pathirana, Maleesa, Pazmino, Sofia, Perez, Dianna, Petrie, John R., Powe, Camille E., Quinteros, Alejandra, Jain, Rashmi, Ray, Debashree, Ried-Larsen, Mathias, Saeed, Zeb, Santhakumar, Vanessa, Kanbour, Sarah, Sarkar, Sudipa, Monaco, Gabriela S. F., Scholtens, Denise M., Selvin, Elizabeth, Sheu, Wayne Huey-Herng, Speake, Cate, Stanislawski, Maggie A., Steenackers, Nele, Steck, Andrea K., Stefan, Norbert, Støy, Julie, Taylor, Rachael, Tye, Sok Cin, Ukke, Gebresilasea Gendisha, Urazbayeva, Marzhan, Van der Schueren, Bart, Vatier, Camille, Wentworth, John M., Hannah, Wesley, White, Sara L., Yu, Gechang, Zhang, Yingchai, Zhou, Shao J., Beltrand, Jacques, Polak, Michel, Aukrust, Ingvild, de Franco, Elisa, Flanagan, Sarah E., Maloney, Kristin A., McGovern, Andrew, Molnes, Janne, Nakabuye, Mariam, Njølstad, Pål Rasmus, Pomares-Millan, Hugo, Provenzano, Michele, Saint-Martin, Cécile, Zhang, Cuilin, Zhu, Yeyi, Auh, Sungyoung, de Souza, Russell, Fawcett, Andrea J., Gruber, Chandra, Mekonnen, Eskedar Getie, Mixter, Emily, Sherifali, Diana, Eckel, Robert H., Nolan, John J., Philipson, Louis H., Brown, Rebecca J., Billings, Liana K., Boyle, Kristen, Costacou, Tina, Dennis, John M., Florez, Jose C., Gloyn, Anna L., Gomez, Maria F., Gottlieb, Peter A., Greeley, Siri Atma W., Griffin, Kurt, Hattersley, Andrew T., Hirsch, Irl B., Hivert, Marie-France, Hood, Korey K., Josefson, Jami L., Kwak, Soo Heon, Laffel, Lori M., Lim, Siew S., Loos, Ruth J. F., Ma, Ronald C. W., Mathieu, Chantal, Mathioudakis, Nestoras, Meigs, James B., Misra, Shivani, Mohan, Viswanathan, Murphy, Rinki, Oram, Richard, Owen, Katharine R., Ozanne, Susan E., Pearson, Ewan R., Perng, Wei, Pollin, Toni I., Pop-Busui, Rodica, Pratley, Richard E., Redman, Leanne M., Redondo, Maria J., Reynolds, Rebecca M., Semple, Robert K., Sherr, Jennifer L., Sims, Emily K., Sweeting, Arianne, Tuomi, Tiinamaija, Udler, Miriam S., Vesco, Kimberly K., Vilsbøll, Tina, Wagner, Robert, Rich, Stephen S., and Franks, Paul W.
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- 2023
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6. The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion
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Murphy, Rinki, Colclough, Kevin, Pollin, Toni I., Ikle, Jennifer M., Svalastoga, Pernille, Maloney, Kristin A., Saint-Martin, Cécile, Molnes, Janne, Misra, Shivani, Aukrust, Ingvild, de Franco, Elisa, Flanagan, Sarah E., Njølstad, Pål R., Billings, Liana K., Owen, Katharine R., and Gloyn, Anna L.
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- 2023
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7. In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY
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Pavithram, Aishwarya, Zhang, Haichen, Maloney, Kristin A., Ringdal, Monika, Kaci, Alba, Sagen, Jørn V., Kleinberger, Jeffrey, Jeng, Linda J.B., Njølstad, Pål R., Pollin, Toni I., Molnes, Janne, and Johansson, Bente B.
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- 2024
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8. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
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Byrne, Alicia, Spurdle, Amanda, Palculict, Blake, Coe, Bradley, Deqiong, Ma, Lyon, Elaine, Groopman, Emily, Qian, Emily, Puffenberger, Erik, Riggs, Erin, Couch, Fergus, Maston, Glenn, Dziadzio, Hannah, Harraway, James, Mester, Jessica, Garcia, John, Lerner-Ellis, Jordan, Benson, Katherine, Avello, Kayleigh, McGoldrick, Kelly, Conlin, Laura, Zec, Lauren, Steeves, Marcie, Richardson, Marcy, Lebo, Matt, Kelly, Melissa, Gollob, Michael, Luo, Minjie, Ganapathi, Mythily, Watkins, Nicholas, Niu, Nifang, Sergouniotis, Panagiotis, Bayrak-Toydemir, Pinar, Schmidt, Ryan, Schilit, Samantha, Richards, Sarah, Pesaran, Tina, Pollin, Toni, Jobanputra, Vaidehi, Zhang, Wenying, Chen, Wuyan, Fan, Yuxin, Schmidt, Ryan J., Benson, Katherine A., Coe, Bradley P., Conlin, Laura K., Gollob, Michael H., Ma, Deqiong, Palculict, T. Blake, Pollin, Toni I., Rehm, Heidi L., Riggs, Erin R., Schilit, Samantha L.P., Sergouniotis, Panagiotis I., Tvrdik, Tatiana, and Lebo, Matthew S.
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- 2024
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9. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
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Schmidt, Ryan J., primary, Steeves, Marcie, additional, Bayrak-Toydemir, Pinar, additional, Benson, Katherine A., additional, Coe, Bradley P., additional, Conlin, Laura K., additional, Ganapathi, Mythily, additional, Garcia, John, additional, Gollob, Michael H., additional, Jobanputra, Vaidehi, additional, Luo, Minjie, additional, Ma, Deqiong, additional, Maston, Glenn, additional, McGoldrick, Kelly, additional, Palculict, T. Blake, additional, Pesaran, Tina, additional, Pollin, Toni I., additional, Qian, Emily, additional, Rehm, Heidi L., additional, Riggs, Erin R., additional, Schilit, Samantha L.P., additional, Sergouniotis, Panagiotis I., additional, Tvrdik, Tatiana, additional, Watkins, Nicholas, additional, Zec, Lauren, additional, Zhang, Wenying, additional, Lebo, Matthew S., additional, Byrne, Alicia, additional, Spurdle, Amanda, additional, Palculict, Blake, additional, Coe, Bradley, additional, Deqiong, Ma, additional, Lyon, Elaine, additional, Groopman, Emily, additional, Puffenberger, Erik, additional, Riggs, Erin, additional, Couch, Fergus, additional, Dziadzio, Hannah, additional, Harraway, James, additional, Mester, Jessica, additional, Lerner-Ellis, Jordan, additional, Benson, Katherine, additional, Avello, Kayleigh, additional, Conlin, Laura, additional, Richardson, Marcy, additional, Lebo, Matt, additional, Kelly, Melissa, additional, Gollob, Michael, additional, Niu, Nifang, additional, Sergouniotis, Panagiotis, additional, Schmidt, Ryan, additional, Schilit, Samantha, additional, Richards, Sarah, additional, Pollin, Toni, additional, Chen, Wuyan, additional, and Fan, Yuxin, additional
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- 2024
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10. Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors.
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Maloney, Kristin A., Mizerik, Elizabeth, King, Robin H., McGinnis, Erin M., Perkowitz, Susan, Diamonstein, Callie J., Schmanski, Andrew A., Saliganan, Sheila, Shipper, Andrea G., Udler, Miriam S., Guan, Yue, and Pollin, Toni I.
- Abstract
Diabetes mellitus is a group of diseases characterized by hyperglycemia and its consequences, affecting over 34 million individuals in the United States and 422 million worldwide. While most diabetes is polygenic and is classified as type 1 (T1D), type 2 (T2D), or gestational diabetes (GDM), at least 0.4% of all diabetes is monogenic in nature. Correct diagnosis of monogenic diabetes has important implications for glycemic management and genetic counseling. We provide this Practice Resource to familiarize the genetic counseling community with (1) the existence of monogenic diabetes, (2) how it differs from more common polygenic/complex diabetes types, (3) the advantage of a correct diagnosis, and (4) guidance for identifying, counseling, and testing patients and families with suspected monogenic diabetes. This document is intended for genetic counselors and other healthcare professionals providing clinical services in any setting, with the goal of maximizing the likelihood of a correct diagnosis of monogenic diabetes and access to related care. [ABSTRACT FROM AUTHOR]
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- 2024
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11. Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees
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Jun, Goo, Manning, Alisa, Almeida, Marcio, Zawistowski, Matthew, Wood, Andrew R, Teslovich, Tanya M, Fuchsberger, Christian, Feng, Shuang, Cingolani, Pablo, Gaulton, Kyle J, Dyer, Thomas, Blackwell, Thomas W, Chen, Han, Chines, Peter S, Choi, Sungkyoung, Churchhouse, Claire, Fontanillas, Pierre, King, Ryan, Lee, SungYoung, Lincoln, Stephen E, Trubetskoy, Vasily, DePristo, Mark, Fingerlin, Tasha, Grossman, Robert, Grundstad, Jason, Heath, Alison, Kim, Jayoun, Kim, Young Jin, Laramie, Jason, Lee, Jaehoon, Li, Heng, Liu, Xuanyao, Livne, Oren, Locke, Adam E, Maller, Julian, Mazur, Alexander, Morris, Andrew P, Pollin, Toni I, Ragona, Derek, Reich, David, Rivas, Manuel A, Scott, Laura J, Sim, Xueling, Tearle, Rick G, Teo, Yik Ying, Williams, Amy L, Zöllner, Sebastian, Curran, Joanne E, Peralta, Juan, Akolkar, Beena, Bell, Graeme I, Burtt, Noël P, Cox, Nancy J, Florez, Jose C, Hanis, Craig L, McKeon, Catherine, Mohlke, Karen L, Seielstad, Mark, Wilson, James G, Atzmon, Gil, Below, Jennifer E, Dupuis, Josée, Nicolae, Dan L, Lehman, Donna, Park, Taesung, Won, Sungho, Sladek, Robert, Altshuler, David, McCarthy, Mark I, Duggirala, Ravindranath, Boehnke, Michael, Frayling, Timothy M, Abecasis, Gonçalo R, and Blangero, John
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Diabetes ,Genetics ,Human Genome ,Clinical Research ,Obesity ,Genetic Testing ,2.1 Biological and endogenous factors ,Aetiology ,Metabolic and endocrine ,Diabetes Mellitus ,Type 2 ,Family Health ,Female ,Gene Frequency ,Genetic Predisposition to Disease ,Genetic Variation ,Genome-Wide Association Study ,Genotype ,Humans ,Male ,Mexican Americans ,Pedigree ,Phenotype ,Quantitative Trait Loci ,Whole Genome Sequencing ,genetics ,sequencing ,type 2 diabetes ,eQTL ,rare variants - Abstract
A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk of type 2 diabetes (T2D) and related traits, we performed deep whole-genome analysis of 1,034 members of 20 large Mexican-American families with high prevalence of T2D. If rare variants of large effect accounted for much of the diabetes risk in these families, our experiment was powered to detect association. Using gene expression data on 21,677 transcripts for 643 pedigree members, we identified evidence for large-effect rare-variant cis-expression quantitative trait loci that could not be detected in population studies, validating our approach. However, we did not identify any rare variants of large effect associated with T2D, or the related traits of fasting glucose and insulin, suggesting that large-effect rare variants account for only a modest fraction of the genetic risk of these traits in this sample of families. Reliable identification of large-effect rare variants will require larger samples of extended pedigrees or different study designs that further enrich for such variants.
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- 2018
12. YIPF5 mutations cause neonatal diabetes and microcephaly: progress for precision medicine and mechanistic understanding
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Pollin, Toni I. and Taylor, Simeon I.
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Precision medicine -- Research ,Genetic research ,Cellular proteins -- Health aspects ,Gene mutation -- Health aspects ,Juvenile diabetes -- Genetic aspects -- Risk factors ,Health care industry - Abstract
Identifying genes that result in monogenic diabetes can provide insights that can build a scientific foundation for precision medicine. At present, nearly 20% of neonatal diabetes cases have unknown causes. In this issue of the JCI, De Franco and Lytrivi et al. sequenced the genome of two probands with a rare neonatal diabetes subtype that also associated with microcephaly and epilepsy. The authors revealed mutations in the YIPF5 gene. YIPF5 resides in the Golgi apparatus and is thought to play a critical role in vesicular trafficking. Notably, disrupting YIPF5 in [beta] cell-based models induced ER stress signaling and resulted in the accumulation of intracellular proinsulin. We believe that utilizing registries and biobanks to reveal other monogenic atypical forms of diabetes is an important approach to gaining insight and suggest that an insulin sensitizer may alleviate ER stress associated with YIPF5 disruption by decreasing the demand for insulin secretion., Monogenic diabetes genes Precision medicine for diabetes is often said to be on the horizon. However, as noted in the recent joint American Diabetes Association (ADA)/European Association for the Study [...]
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- 2020
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13. Case 36-2023: A 19-Year-Old Man with Diabetes and Kidney Cysts
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Vivante, Asaf, primary, Tan, Weizhen, additional, Harrington, Samantha G., additional, Udler, Miriam S., additional, and Pollin, Toni I., additional
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- 2023
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14. Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes
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Schroeder, Philip, primary, Mandla, Ravi, additional, Huerta-Chagoya, Alicia, additional, Alkanak, Ahmed, additional, Nagy, Dorka, additional, Szczerbinski, Lukasz, additional, Madsen, Jesper G.S., additional, Cole, Joanne B., additional, Porneala, Bianca, additional, Westerman, Kenneth, additional, Li, Josephine H., additional, Pollin, Toni I., additional, Gloyn, Anna, additional, Cebola, Inês, additional, Florez, Jose C., additional, Manning, Alisa, additional, Leong, Aaron, additional, Udler, Miriam, additional, and Mercader, Josep M., additional
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- 2023
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15. Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors
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Maloney, Kristin A., primary, Mizerik, Elizabeth, additional, King, Robin H., additional, McGinnis, Erin M., additional, Perkowitz, Susan, additional, Diamonstein, Callie J., additional, Schmanski, Andrew A., additional, Saliganan, Sheila, additional, Shipper, Andrea G., additional, Udler, Miriam S., additional, Guan, Yue, additional, and Pollin, Toni I., additional
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- 2023
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16. Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention
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Cavallari, Larisa H., Lee, Craig R., Beitelshees, Amber L., Cooper-DeHoff, Rhonda M., Duarte, Julio D., Voora, Deepak, Kimmel, Stephen E., McDonough, Caitrin W., Gong, Yan, Dave, Chintan V., Pratt, Victoria M., Alestock, Tameka D., Anderson, R. David, Alsip, Jorge, Ardati, Amer K., Brott, Brigitta C., Brown, Lawrence, Chumnumwat, Supatat, Clare-Salzler, Michael J., Coons, James C., Denny, Joshua C., Dillon, Chrisly, Elsey, Amanda R., Hamadeh, Issam S., Harada, Shuko, Hillegass, William B., Hines, Lindsay, Horenstein, Richard B., Howell, Lucius A., Jeng, Linda J.B., Kelemen, Mark D., Lee, Yee Ming, Magvanjav, Oyunbileg, Montasser, May, Nelson, David R., Nutescu, Edith A., Nwaba, Devon C., Pakyz, Ruth E., Palmer, Kathleen, Peterson, Josh F., Pollin, Toni I., Quinn, Alison H., Robinson, Shawn W., Schub, Jamie, Skaar, Todd C., Smith, D. Max, Sriramoju, Vindhya B., Starostik, Petr, Stys, Tomasz P., Stevenson, James M., Varunok, Nicholas, Vesely, Mark R., Wake, Dyson T., Weck, Karen E., Weitzel, Kristin W., Wilke, Russell A., Willig, James, Zhao, Richard Y., Kreutz, Rolf P., Stouffer, George A., Empey, Philip E., Limdi, Nita A., Shuldiner, Alan R., Winterstein, Almut G., and Johnson, Julie A.
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- 2018
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17. Qualitative study of system-level factors related to genomic implementation
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Zebrowski, Alexis M., Ellis, Darcy E., Barg, Frances K., Sperber, Nina R., Bernhardt, Barbara A., Denny, Joshua C., Dexter, Paul R., Ginsburg, Geoffrey S., Horowitz, Carol R., Johnson, Julie A., Levy, Mia A., Orlando, Lori A., Pollin, Toni I., Skaar, Todd C., and Kimmel, Stephen E.
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- 2019
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18. Genetic modulation of lipid profiles following lifestyle modification or metformin treatment: the Diabetes Prevention Program.
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Pollin, Toni I, Isakova, Tamara, Jablonski, Kathleen A, de Bakker, Paul IW, Taylor, Andrew, McAteer, Jarred, Pan, Qing, Horton, Edward S, Delahanty, Linda M, Altshuler, David, Shuldiner, Alan R, Goldberg, Ronald B, Florez, Jose C, Franks, Paul W, and Diabetes Prevention Program Research Group
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Diabetes Prevention Program Research Group ,Humans ,Cardiovascular Diseases ,Diabetes Mellitus ,Type 2 ,Weight Loss ,Metformin ,Triglycerides ,Lipoproteins ,Hypoglycemic Agents ,Magnetic Resonance Spectroscopy ,Risk Factors ,Life Style ,Polymorphism ,Single Nucleotide ,Adult ,Middle Aged ,Female ,Male ,Dyslipidemias ,Lipid Metabolism ,Cholesterol ,LDL ,Cholesterol ,HDL ,Genetic Association Studies ,Cholesterol ,HDL ,LDL ,Diabetes Mellitus ,Type 2 ,Polymorphism ,Single Nucleotide ,Genetics ,Developmental Biology - Abstract
Weight-loss interventions generally improve lipid profiles and reduce cardiovascular disease risk, but effects are variable and may depend on genetic factors. We performed a genetic association analysis of data from 2,993 participants in the Diabetes Prevention Program to test the hypotheses that a genetic risk score (GRS) based on deleterious alleles at 32 lipid-associated single-nucleotide polymorphisms modifies the effects of lifestyle and/or metformin interventions on lipid levels and nuclear magnetic resonance (NMR) lipoprotein subfraction size and number. Twenty-three loci previously associated with fasting LDL-C, HDL-C, or triglycerides replicated (P = 0.04-1 × 10(-17)). Except for total HDL particles (r = -0.03, P = 0.26), all components of the lipid profile correlated with the GRS (partial |r| = 0.07-0.17, P = 5 × 10(-5)-1 10(-19)). The GRS was associated with higher baseline-adjusted 1-year LDL cholesterol levels (β = +0.87, SEE ± 0.22 mg/dl/allele, P = 8 × 10(-5), P(interaction) = 0.02) in the lifestyle intervention group, but not in the placebo (β = +0.20, SEE ± 0.22 mg/dl/allele, P = 0.35) or metformin (β = -0.03, SEE ± 0.22 mg/dl/allele, P = 0.90; P(interaction) = 0.64) groups. Similarly, a higher GRS predicted a greater number of baseline-adjusted small LDL particles at 1 year in the lifestyle intervention arm (β = +0.30, SEE ± 0.012 ln nmol/L/allele, P = 0.01, P(interaction) = 0.01) but not in the placebo (β = -0.002, SEE ± 0.008 ln nmol/L/allele, P = 0.74) or metformin (β = +0.013, SEE ± 0.008 nmol/L/allele, P = 0.12; P(interaction) = 0.24) groups. Our findings suggest that a high genetic burden confers an adverse lipid profile and predicts attenuated response in LDL-C levels and small LDL particle number to dietary and physical activity interventions aimed at weight loss.
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- 2012
19. Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population
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Winters, Alexandra, Ramos-Molina, Bruno, Jarvela, Timothy S., Yerges-Armstrong, Laura, Pollin, Toni I., and Lindberg, Iris
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- 2017
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20. Case 11.7.3 - Endocrinologic and Growth Cases: Diabetes
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Pollin, Toni I.
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- 2024
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21. Positive association between Toxoplasma gondii IgG serointensity and current dysphoria/hopelessness scores in the Old Order Amish: a preliminary study
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Wadhawan Abhishek, Dagdag Aline, Duffy Allyson, Daue Melanie L., Ryan Kathy A., Brenner Lisa A., Stiller John W., Pollin Toni I., Groer Maureen W., Huang Xuemei, Lowry Christopher A., Mitchell Braxton D., and Postolache Teodor T.
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anhedonia ,hopelessness ,old order amish ,toxoplasma gondii ,Crystallography ,QD901-999 - Abstract
Toxoplasma gondii (T. gondii) IgG seropositivity and serointensity have been previously associated with suicidal self-directed violence (SSDV). Although associations with unipolar depression have also been investigated, the results have been inconsistent, possibly as a consequence of high heterogeneity. We have now studied this association in a more homogeneous population, [that is (i.e.) Old Order Amish (OOA)] with previously reported high T. gondii seroprevalence. In 306 OOA with a mean age of 46.1±16.7 years, including 191 (62.4%) women in the Amish Wellness Study, we obtained both T. gondii IgG titers (by enzyme-linked immunosorbent assay [ELISA]), and depression screening questionnaires (Patient Health Questionnaire [PHQ-9] [n=280] and PHQ-2 [n=26]). Associations between T. gondii IgG and dysphoria/hopelessness and anhedonia scores on depression screening questionnaires were analyzed using multivariable linear methods with adjustment for age and sex. Serointensity was associated with both current dysphoria/hopelessness (p=0.045) and current combined anhedonia and dysphoria/hopelessness (p=0.043), while associations with simple anhedonia and past/lifelong (rather than current) phenotypes were not significant. These results indicate the need for larger longitudinal studies to corroborate the association between dysphoria/hopelessness and T. gondii IgG-titers. Current hopelessness is a known risk factor for SSDV which responds particularly well to cognitive behavioral therapy, and may be a focused treatment target for T. gondii-positive individuals at high-risk for SSDV.
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- 2017
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22. Association of parity with body mass index and cardiometabolic risk in high-parous women
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He, Shisi, primary, McArdle, Patrick F., additional, Ryan, Kathleen A., additional, Daue, Melanie, additional, Xu, Huichun, additional, Barry, Kathryn Hughes, additional, Magder, Laurence S., additional, Shuldiner, Alan R., additional, Pollin, Toni I., additional, and Mitchell, Braxton D., additional
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- 2023
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23. Sequencing Approaches to Type 2 Diabetes
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Kleinberger, Jeffrey W., Pollin, Toni I., and Florez, Jose C., editor
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- 2016
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24. Polyherbal dietary supplementation for prediabetic adults: study protocol for a randomized controlled trial
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Feinberg, Termeh, Wieland, L. Susan, Miller, Larry E., Munir, Kashif, Pollin, Toni I., Shuldiner, Alan R., Amoils, Steve, Gallagher, Lisa, Bahr-Robertson, Mary, and D’Adamo, Christopher R.
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- 2019
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25. Mapping Genes in Isolated Populations: Lessons from the Old Order Amish
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Mitchell, Braxton D., Schäffer, Alejandro A., Pollin, Toni I., Streeten, Elizabeth A., Horenstein, Richard B., Steinle, Nanette I., Yerges-Armstrong, Laura, Shuldiner, Alan R., O’Connell, Jeffrey R., Kole, Chittaranjan, Series editor, Duggirala, Ravindranath, editor, Almasy, Laura, editor, Williams-Blangero, Sarah, editor, and Paul, Solomon F.D., editor
- Published
- 2015
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26. Evaluation of the Informational Content, Readability and Comprehensibility of Online Health Information on Monogenic Diabetes
- Author
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Guan, Yue, Maloney, Kristin A., Roter, Debra L., and Pollin, Toni I.
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- 2018
- Full Text
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27. Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group
- Author
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Orlando, Lori A, Sperber, Nina R, Voils, Corrine, Nichols, Marshall, Myers, Rachel A, Wu, R Ryanne, Rakhra-Burris, Tejinder, Levy, Kenneth D, Levy, Mia, Pollin, Toni I, Guan, Yue, Horowitz, Carol R, Ramos, Michelle, Kimmel, Stephen E, McDonough, Caitrin W, Madden, Ebony B, and Damschroder, Laura J
- Published
- 2018
- Full Text
- View/download PDF
28. Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial
- Author
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Kleinberger, Jeffrey W, Copeland, Kenneth C, Gandica, Rachelle G, Haymond, Morey W, Levitsky, Lynne L, Linder, Barbara, Shuldiner, Alan R, Tollefsen, Sherida, White, Neil H, and Pollin, Toni I
- Published
- 2018
- Full Text
- View/download PDF
29. The Effect of Interventions to Prevent Type 2 Diabetes on the Development of Diabetic Retinopathy: The DPP/DPPOS Experience
- Author
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White, Neil H., Pan, Qing, Knowler, William C., Schroeder, Emily B., Dabelea, Dana, Chew, Emily Y., Blodi, Barbara, Goldberg, Ronald B., Pi-Sunyer, Xavier, Darwin, Christine, Schlögl, Mathias, Nathan, David M., Goldstein, Barry J., Furlong, Kevin, Smith, Kellie A., Mendoza, Jewel, Wildman, Wendi, Simmons, Marsha, Jensen, Genine, Liberoni, Renee, Spandorfer, John, Pepe, Constance, Donahue, Richard P., Prineas, Ronald, Rowe, Patricia, Giannella, Anna, Calles, Jeanette, Sanguily, Juliet, Cassanova-Romero, Paul, Castillo-Florez, Sumaya, Florez, Hermes J., Garg, Rajesh, Kirby, Lascelles, Lara, Olga, Larreal, Carmen, McLymont, Valerie, Mendez, Jadell, Perry, Arlette, Saab, Patrice, Veciana, Bertha, Haffner, Steven M., Hazuda, Helen P., Montez, Maria G., Isaac, Juan, Hattaway, Kathy, Lorenzo, Carlos, Martinez, Arlene, Salazar, Monica, Walker, Tatiana, Hamman, Richard F., Nash, Patricia V., Steinke, Sheila C., Testaverde, Lisa, Truong, Jennifer, Anderson, Denise R., Ballonoff, Larry B., Bouffard, Alexis, Boxer, Rebecca S., Bucca, Brian, Calonge, B. Ned, Delve, Lynne, Farago, Martha, Hill, James O., Hoyer, Shelley R., Jenkins, Tonya, Jortberg, Bonnie T., Lenz, Dione, Miller, Marsha, Nilan, Thomas, Perreault, Leigh, Price, David W., Regensteiner, Judith G., Seagle, Helen, Smith, Carissa M., VanDorsten, Brent, Horton, Edward S., Munshi, Medha, Lawton, Kathleen E., Poirier, Catherine S., Swift, Kati, Jackson, Sharon D., Arky, Ronald A., Bryant, Marybeth, Burke, Jacqueline P., Caballero, Enrique, Callaphan, Karen M., Fargnoli, Barbara, Franklin, Therese, Ganda, Om P., Guidi, Ashley, Guido, Mathew, Jacobsen, Alan M., Kula, Lyn M., Kocal, Margaret, Lambert, Lori, Ledbury, Sarah, Malloy, Maureen A., Middelbeek, Roeland J.W., Nicosia, Maryanne, Oldmixon, Cathryn F., Pan, Jocelyn, Quitingon, Marizel, Rainville, Riley, Rubtchinsky, Stacy, Seely, Ellen W., Sansoucy, Jessica, Schweizer, Dana, Simonson, Donald, Smith, Fannie, Solomon, Caren G., Spellman, Jeanne, Warram, James, Kahn, Steven E., Montgomery, Brenda K., Fattaleh, Basma, Colegrove, Celeste, Fujimoto, Wilfred, Knopp, Robert H., Lipkin, Edward W., Marr, Michelle, Morgan-Taggart, Ivy, Murillo, Anne, O’Neal, Kayla, Trence, Dace, Taylor, Lonnese, Thomas, April, Tsai, Elaine C., Kitabchi, Abbas E., Dagogo-Jack, Samuel, Murphy, Mary E., Taylor, Laura, Dolgoff, Jennifer, Hampton, Ethel Faye, Applegate, William B., Bryer-Ash, Michael, Clark, Debra, Frieson, Sandra L., Ibebuogu, Uzoma, Imseis, Raed, Lambeth, Helen, Lichtermann, Lynne C., Oktaei, Hooman, Ricks, Harriet, Rutledge, Lily M.K., Sherman, Amy R., Smith, Clara M., Soberman, Judith E., Williamsleaves, Beverly, Patel, Avnisha, Nyenwe, Ebenezer A., Metzger, Boyd E., Molitch, Mark E., Wallia, Amisha, Johnson, Mariana K., VanderMolen, Sarah, Adelman, Daphne T., Behrends, Catherine, Cook, Michelle, Fitzgibbon, Marian, Giles, Mimi M., Hartmuller, Monica, Johnson, Cheryl K.H., Larsen, Diane, Lowe, Anne, Lyman, Megan, McPherson, David, Penn, Samsam C., Pitts, Thomas, Reinhart, Renee, Roston, Susan, Schinleber, Pamela A., McKitrick, Charles, Turgeon, Heather, Larkin, Mary, Mugford, Marielle, Thangthaeng, Nopporn, Leander, Fernelle, Abbott, Kathy, Anderson, Ellen, Bissett, Laurie, Bondi, Kristy, Cagliero, Enrico, Florez, Jose C., Delahanty, Linda, Goldman, Valerie, Grassa, Elaine, Gurry, Lindsey, D’Anna, Kali, Leandre, Fernelle, Lou, Peter, Poulos, Alexandra, Raymond, Elyse, Ripley, Valerie, Stevens, Christine, Tseng, Beverly, Olefsky, Jerrold M., Barrettonnor, Elizabeth, Mudaliar, Sunder, Rosario Araneta, Maria, Carrion-Petersen, Mary Lou, Vejvoda, Karen, Bassiouni, Sarah, Beltran, Madeline, Claravall, Lauren N., Dowden, Jonalle M., Edelman, Steven V., Garimella, Pranav, Henry, Robert R., Horne, Javiva, Lamkin, Marycie, Szerdi Janesch, Simona, Leos, Diana, Polonsky, William, Ruiz, Rosa, Smith, Jean, Torio-Hurley, Jennifer, Pi-Sunyer, F. Xavier, Laferrere, Blandine, Lee, Jane E., Hagamen, Susan, Kelly-Dinham, Kim, Allison, David B., Agharanya, Nnenna, Aronoff, Nancy J., Baldo, Maria, Crandall, Jill P., Foo, Sandra T., Luchsinger, Jose A., Pal, Carmen, Parkes, Kathy, Pena, Mary Beth, Roman, Julie, Rooney, Ellen S., VanWye, Gretchen E.H., Viscovich, Kristine A., Prince, Melvin J., Marrero, David G., Mather, Kieren J., De Groot, Mary, Kelly, Susie M., Jackson, Marcia A., McAtee, Gina, Putenney, Paula, Ackermann, Ronald T., Cantrell, Carolyn M., Dotson, Yolanda F., Fineberg, Edwin S., Fultz, Megan, Guare, John C., Hadden, Angela, Ignaut, James M., Kirkman, Marion S., O’Kelly Phillips, Erin, Pinner, Kisha L., Porter, Beverly D., Roach, Paris J., Rowland, Nancy D., Wheeler, Madelyn L., Ratner, Robert E., Aroda, Vanita, Magee, Michelle, Youssef, Gretchen, Shapiro, Sue, Andon, Natalie, Bavido-Arrage, Catherine, Boggs, Geraldine, Bronsord, Marjorie, Brown, Ernestine, Love Burkott, Holly, Cheatham, Wayman W., Cola, Susan, Evans, Cindy, Gibbs, Peggy, Kellum, Tracy, Leon, Lilia, Lagarda, Milvia, Levatan, Claresa, Lindsay, Milajurine, Nair, Asha K., Park, Jean, Passaro, Maureen, Silverman, Angela, Uwaifo, Gabriel, Wells-Thayer, Debra, Wiggins, Renee, Saad, Mohammed F., Watson, Karol, Budget, Maria, Jinagouda, Sujata, Botrous, Medhat, Sosa, Anthony, Tadros, Sameh, Akbar, Khan, Conzues, Claudia, Magpuri, Perpetua, Ngo, Kathy, Rassam, Amer, Waters, Debra, Xapthalamous, Kathy, Santiago, Julio V., Brown, Angela L., Santiago, Ana, Das, Samia, Khare-Ranade, Prajakta, Stich, Tamara, Fisher, Edwin, Hurt, Emma, Jones, Jackie, Jones, Tracy, Kerr, Michelle, McCowan, Sherri, Ryder, Lucy, Wernimont, Cormarie, Saudek, Christopher D., Hill Golden, Sherita, Bradley, Vanessa, Sullivan, Emily, Whittington, Tracy, Abbas, Caroline, Allen, Adrienne, Brancati, Frederick L., Cappelli, Sharon, Clark, Jeanne M., Charleston, Jeanne B., Freel, Janice, Horak, Katherine, Greene, Alicia, Jiggetts, Dawn, Johnson, Delois, Joseph, Hope, Kalyani, Rita, Loman, Kimberly, Mathioudakis, Nestoras, Maruthur, Nisa, Mosley, Henry, Reusing, John, Rubin, Richard R., Samuels, Alafia, Shields, Thomas, Stephens, Shawne, Stewart, Kerry J., Thomas, LeeLana, Utsey, Evonne, Williamson, Paula, Schade, David S., Adams, Karwyn S., Johannes, Carolyn, Hemphill, Claire, Hyde, Penny, Canady, Janene L., Atler, Leslie F., Boyle, Patrick J., Burge, Mark R., Chai, Lisa, Colleran, Kathleen, Fondino, Ateka, Gonzales, Ysela, Hernandez-McGinnis, Doris A., Katz, Patricia, King, Carolyn, Middendorf, Julia, Rubinchik, Sofya, Senter, Willette, Shamoon, Harry, Crandall, Jill, Brown, Janet O., Trandafirescu, Gilda, Powell, Danielle, Adorno, Elsie, Cox, Liane, Duffy, Helena, Engel, Samuel, Friedler, Allison, Goldstein, Angela, Howardentury, Crystal J., Lukin, Jennifer, Kloiber, Stacey, Longchamp, Nadege, Martinez, Helen, Pompi, Dorothy, Scheindlin, Jonathan, Tomuta, Norica, Violino, Elissa, Walker, Elizabeth A., Wylie-Rosett, Judith, Zimmerman, Elise, Zonszein, Joel, Wing, Rena R., Orchard, Trevor, Venditti, Elizabeth, Koenning, Gaye, Kramer, M. Kaye, Smith, Marie, Jeffries, Susan, Weinzierl, Valarie, Barr, Susan, Benchoff, Catherine, Boraz, Miriam, Clifford, Lisa, Culyba, Rebecca, Frazier, Marlene, Gilligan, Ryan, Guimond, Stephanie, Harrier, Susan, Harris, Louann, Kriska, Andrea, Manjoo, Qurashia, Mullen, Monica, Noel, Alicia, Otto, Amy, Pettigrew, Jessica, Rockette-Wagner, Bonny, Rubinstein, Debra, Semler, Linda, Smith, Cheryl F., Williams, Katherine V., Wilson, Tara, Arakaki, Richard F., Mau, Marjorie K., Latimer, Renee W., Isonaga, Mae K., Baker-Ladao, Narleen K., Bow, Ralph, Bermudez, Nina E., Dias, Lorna, Inouye, Jillian, Melish, John S., Mikami, Kathy, Mohideen, Pharis, Odom, Sharon K., Perry, Raynette U., Yamamoto, Robin E., Hanson, Robert L., Shah, Vallabh, Hoskin, Mary A., Percy, Carol A., Cooeyate, Norman, Natewa, Camille, Dodge, Charlotte, Enote, Alvera, Anderson, Harelda, Acton, Kelly J., Andre, Vickie L., Barber, Rosalyn, Begay, Shandiin, Bennett, Peter H., Benson, Mary Beth, Bird, Evelyn C., Broussard, Brenda A., Bucca, Brian C., Chavez, Marcella, Cook, Sherron, Curtis, Jeff, Dacawyma, Tara, Doughty, Matthew S., Duncan, Roberta, Edgerton, Cyndy, Ghahate, Jacqueline M., Glass, Justin, Glass, Martia, Gohdes, Dorothy, Grant, Wendy, Horse, Ellie, Ingraham, Louise E., Jackson, Merry, Jay, Priscilla, Kaskalla, Roylen S., Kavena, Karen, Kessler, David, Kobus, Kathleen M., Krakoff, Jonathan, Kurland, Jason, Manus, Catherine, McCabe, Cherie, Michaels, Sara, Morgan, Tina, Nashboo, Yolanda, Nelson, Julie A., Poirier, Steven, Polczynski, Evette, Piromalli, Christopher, Reidy, Mike, Roumain, Jeanine, Rowse, Debra, Roy, Robert J., Sangster, Sandra, Sewenemewa, Janet, Smart, Miranda, Spencer, Chelsea, Tonemah, Darryl, Williams, Rachel, Wilson, Charlton, Yazzie, Michelle, Bain, Raymond, Fowler, Sarah, Larsen, Michael D., Jablonski, Kathleen, Temprosa, Marinella, Brenneman, Tina, Edelstein, Sharon L., Abebe, Solome, Bamdad, Julie, Barkalow, Melanie, Bethepu, Joel, Bezabeh, Tsedenia, Bowers, Anna, Butler, Nicole, Callaghan, Jackie, Carter, Caitlin E., Christophi, Costas, Dwyer, Gregory M., Foulkes, Mary, Gao, Yuping, Gooding, Robert, Gottlieb, Adrienne, Grimes, Kristina L., Grover-Fairchild, Nisha, Haffner, Lori, Hoffman, Heather, Jones, Steve, Jones, Tara L., Katz, Richard, Kolinjivadi, Preethy, Lachin, John M., Ma, Yong, Mucik, Pamela, Orlosky, Robert, Reamer, Susan, Rochon, James, Sapozhnikova, Alla, Sherif, Hanna, Stimpson, Charlotte, Hogan Tjaden, Ashley, Walker-Murray, Fredricka, Venditti, Elizabeth M., Kriska, Andrea M., Weinzierl, Valerie, Marcovina, Santica, Aldrich, F. Alan, Harting, Jessica, Albers, John, Strylewicz, Greg, Killeen, Anthony, Gabrielson, Deanna, Eastman, R., Fradkin, Judith, Garfield, Sanford, Lee, Christine, Gregg, Edward, Zhang, Ping, O’Leary, Dan, Evans, Gregory, Budoff, Matthew, Dailing, Chris, Stamm, Elizabeth, Schwartz, Ann, Navy, Caroline, Palermo, Lisa, Rautaharju, Pentti, Prineas, Ronald J., Soliman, Elsayed Z., Alexander, Teresa, Campbell, Charles, Hall, Sharon, Li, Yabing, Mills, Margaret, Pemberton, Nancy, Rautaharju, Farida, Zhang, Zhuming, Hu, Julie, Hensley, Susan, Keasler, Lisa, Taylor, Tonya, Danis, Ronald, Davis, Matthew, Hubbard, Larry, Endres, Ryan, Elsas, Deborah, Johnson, Samantha, Myers, Dawn, Barrett, Nancy, Baumhauer, Heather, Benz, Wendy, Cohn, Holly, Corkery, Ellie, Dohm, Kristi, Domalpally, Amitha, Gama, Vonnie, Goulding, Anne, Ewen, Andy, Hurtenbach, Cynthia, Lawrence, Daniel, McDaniel, Kyle, Pak, Jeong, Reimers, James, Shaw, Ruth, Swift, Maria, Vargo, Pamela, Watson, Sheila, Manly, Jennifer, Mayer-Davis, Elizabeth, Moran, Robert R., Ganiats, Ted, David, Kristin, Sarkin, Andrew J., Groessl, Erik, Katzir, Naomi, Chong, Helen, Herman, William H., Brändle, Michael, Brown, Morton B., Altshuler, David, Billings, Liana K., Chen, Ling, Harden, Maegan, Pollin, Toni I., Shuldiner, Alan R., Franks, Paul W., and Hivert, Marie-France
- Subjects
Advanced and Specialized Nursing ,Endocrinology, Diabetes and Metabolism ,Internal Medicine ,Pathophysiology/Complications - Abstract
OBJECTIVE To determine whether interventions that slow or prevent the development of type 2 diabetes in those at risk reduce the subsequent prevalence of diabetic retinopathy. RESEARCH DESIGN AND METHODS The Diabetes Prevention Program (DPP) randomized subjects at risk for developing type 2 diabetes because of overweight/obesity and dysglycemia to metformin (MET), intensive lifestyle intervention (ILS), or placebo (PLB) to assess the prevention of diabetes. During the DPP and DPP Outcome Study (DPPOS), we performed fundus photography over time on study participants, regardless of their diabetes status. Fundus photographs were graded using the Early Treatment Diabetic Retinopathy Study grading system, with diabetic retinopathy defined as typical lesions of diabetic retinopathy (microaneurysms, exudates, or hemorrhage, or worse) in either eye. RESULTS Despite reduced progression to diabetes in the ILS and MET groups compared with PLB, there was no difference in the prevalence of diabetic retinopathy between treatment groups after 1, 5, 11, or 16 years of follow-up. No treatment group differences in retinopathy were found within prespecified subgroups (baseline age, sex, race/ethnicity, baseline BMI). In addition, there was no difference in the prevalence of diabetic retinopathy between those exposed to metformin and those not exposed to metformin, regardless of treatment group assignment. CONCLUSIONS Interventions that delay or prevent the onset of type 2 diabetes in overweight/obese subjects with dysglycemia who are at risk for diabetes do not reduce the development of diabetic retinopathy for up to 20 years.
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- 2022
30. Identification of genetic variation influencing metformin response in a multi-ancestry genome-wide association study in the Diabetes Prevention Program (DPP)
- Author
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Li, Josephine, primary, Perry, James A., primary, Jablonski, Kathleen A., primary, Srinivasan, Shylaja, primary, Chen, Ling, primary, Todd, Jennifer N., primary, Harden, Maegan, primary, Mercader, Josep M., primary, Pan, Qing, primary, Dawed, Adem Y., primary, Yee, Sook Wah, primary, Pearson, Ewan R., primary, Giacomini, Kathleen M., primary, Giri, Ayush, primary, Hung, Adriana M., primary, Xiao, Shujie, primary, Williams, L. Keoki, primary, Franks, Paul W., primary, Hanson, Robert L., primary, Kahn, Steven E., primary, Knowler, William C., primary, Pollin, Toni I., primary, Florez, Jose C., primary, and Group, Diabetes Prevention Program Research, primary
- Published
- 2023
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31. Identification of genetic variation influencing metformin response in a multi-ancestry genome-wide association study in the Diabetes Prevention Program (DPP)
- Author
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Li, Josephine, primary, Perry, James A., primary, Jablonski, Kathleen A., primary, Srinivasan, Shylaja, primary, Chen, Ling, primary, Todd, Jennifer N., primary, Harden, Maegan, primary, Mercader, Josep M., primary, Pan, Qing, primary, Dawed, Adem Y., primary, Yee, Sook Wah, primary, Pearson, Ewan R., primary, Giacomini, Kathleen M., primary, Giri, Ayush, primary, Hung, Adriana M., primary, Xiao, Shujie, primary, Williams, L. Keoki, primary, Franks, Paul W., primary, Hanson, Robert L., primary, Kahn, Steven E., primary, Knowler, William C., primary, Pollin, Toni I., primary, Florez, Jose C., primary, and Group, Diabetes Prevention Program Research, primary
- Published
- 2022
- Full Text
- View/download PDF
32. Monogenic diabetes: a gateway to precision medicine in diabetes
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Zhang, Haichen, Colclough, Kevin, Gloyn, Anna L., and Pollin, Toni I.
- Subjects
Diabetes -- Genetic aspects -- Diagnosis -- Care and treatment ,Health care industry - Abstract
Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene and accounts for approximately 1%-5% of diabetes. Correct diagnosis is clinically critical for certain types of monogenic diabetes, since the appropriate treatment is determined by the etiology of the disease (e.g., oral sulfonylurea treatment of HNF1A/HNF4A-diabetes vs. insulin injections in type 1 diabetes). However, achieving a correct diagnosis requires genetic testing, and the overlapping of the clinical features of monogenic diabetes with those of type 1 and type 2 diabetes has frequently led to misdiagnosis. Improvements in sequencing technology are increasing opportunities to diagnose monogenic diabetes, but challenges remain. In this Review, we describe the types of monogenic diabetes, including common and uncommon types of maturity- onset diabetes of the young, multiple causes of neonatal DM, and syndromic diabetes such as Wolfram syndrome and lipodystrophy. We also review methods of prioritizing patients undergoing genetic testing, and highlight existing challenges facing sequence data interpretation that can be addressed by forming collaborations of expertise and by pooling cases., Introduction Monogenic diabetes is caused by a single defect in one of over 40 genes (1, 2). Since maturity-onset diabetes of the young (MODY) was named by Fajans for the [...]
- Published
- 2021
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33. Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN)
- Author
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Wojczynski, Mary K., Parnell, Laurence D., Pollin, Toni I., Lai, Chao Q., Feitosa, Mary F., O’Connell, Jeff R., Frazier-Wood, Alexis C., Gibson, Quince, Aslibekyan, Stella, Ryan, Kathy A., Province, Michael A., Tiwari, Hemant K., Ordovas, Jose M., Shuldiner, Alan R., Arnett, Donna K., and Borecki, Ingrid B.
- Published
- 2015
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34. Effects of APOC3 Heterozygous Deficiency on Plasma Lipid and Lipoprotein Metabolism
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Reyes-Soffer, Gissette, Sztalryd, Carol, Horenstein, Richard B., Holleran, Stephen, Matveyenko, Anastasiya, Thomas, Tiffany, Nandakumar, Renu, Ngai, Colleen, Karmally, Wahida, Ginsberg, Henry N., Ramakrishnan, Rajasekhar, and Pollin, Toni I.
- Published
- 2019
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35. Epigenetics Variation and Pathogenesis in Diabetes
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Zhang, Haichen and Pollin, Toni I.
- Published
- 2018
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36. Statistical evidence for high‐penetrance MODY‐causing genes in a large population‐based cohort
- Author
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Billings, Liana K., primary, Shi, Zhuqing, additional, Resurreccion, W. Kyle, additional, Wang, Chi‐Hsiung, additional, Wei, Jun, additional, Pollin, Toni I., additional, Udler, Miriam S., additional, and Xu, Jianfeng, additional
- Published
- 2022
- Full Text
- View/download PDF
37. Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment
- Author
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Bashford, Michael T., Kohlman, Wendy, Everett, Jessica, Parrott, Ashley, and Pollin, Toni I.
- Published
- 2019
- Full Text
- View/download PDF
38. Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program
- Author
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Zhang, Haichen, primary, Kleinberger, Jeffrey W., additional, Maloney, Kristin A., additional, Guan, Yue, additional, Mathias, Trevor J., additional, Bisordi, Katharine, additional, Streeten, Elizabeth A., additional, Blessing, Kristina, additional, Snyder, Mallory N., additional, Bromberger, Lee A., additional, Goehringer, Jessica, additional, Kimball, Amy, additional, Damcott, Coleen M., additional, Taylor, Casey O., additional, Nicholson, Michaela, additional, Nwaba, Devon, additional, Palmer, Kathleen, additional, Sewell, Danielle, additional, Ambulos, Nicholas, additional, Jeng, Linda J.B., additional, Shuldiner, Alan R., additional, Levin, Philip, additional, Carey, David J., additional, and Pollin, Toni I., additional
- Published
- 2022
- Full Text
- View/download PDF
39. A Model for Integration of Monogenic Diabetes Diagnosis into Routine Care: The Personalized Diabetes Medicine Program
- Author
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Zhang, Haichen, primary, Kleinberger, Jeffrey W., primary, Maloney, Kristin A., primary, Guan, Yue, primary, Mathias, Trevor J., primary, Bisordi, Katharine, primary, Streeten, Elizabeth A., primary, Blessing, Kristina, primary, Snyder, Mallory N., primary, Bromberger, Lee, primary, Goehringer, Jessica, primary, Kimball, Amy, primary, Damcott, Coleen M., primary, Taylor, Casey O., primary, Nicholson, Michaela, primary, Nwaba, Devon, primary, Palmer, Kathleen, primary, Sewell, Danielle, primary, Ambulos, Nicholas, primary, Jeng, Linda J.B., primary, Shuldiner, Alan R., primary, Levin, Philip, primary, Carey, David J., primary, and Pollin, Toni I., primary
- Published
- 2022
- Full Text
- View/download PDF
40. Familial Aggregation of Tobacco Use Behaviors Among Amish Men
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Nugent, Katie L., Million-Mrkva, Amber, Backman, Joshua, Stephens, Sarah H., Reed, Robert M., Kochunov, Peter, Pollin, Toni I., Shuldiner, Alan R., Mitchell, Braxton D., and Hong, L. Elliot
- Published
- 2014
41. Genetic Influences on Blood Lipids and Cardiovascular Disease Risk
- Author
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Pollin, Toni I., primary, Ordovas, Jose M., additional, and Guevara-Cruz, Martha, additional
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- 2017
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42. List of Contributors
- Author
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Ackland, Tim, primary, Alvarado, Leiddy Z., additional, Anderson, Cheryl A.M., additional, Apovian, Caroline M., additional, Ariefdjohan, Merlin W., additional, Baer, Marion Taylor, additional, Barnes, Jennifer L., additional, Batch, Bryan C., additional, Bhriain, Sinead N., additional, Blomme, Courtney K., additional, Bray, George A., additional, Brown-Esters, Onikia N., additional, Burke, Lora E., additional, Boushey, Carol J., additional, Cadmus-Bertram, Lisa, additional, Calvo, Mona S., additional, Campbell, Sara C., additional, Chin, Lyanne H., additional, Costello, Rebecca B., additional, Crane, Melissa M., additional, Cross, Amanda J., additional, Cureton, Pamela, additional, de Rus Jacquet, Aurélie, additional, Delahanty, Linda M., additional, DeLany, James P., additional, Demark-Wahnefried, Wendy, additional, Dilk, Abby, additional, Drapeau, V., additional, Duarte-Gardea, Maria, additional, Dwyer, Johanna T., additional, Fasano, Alessio, additional, Ferruzzi, Mario G., additional, Fisler, Janis S., additional, Freudenheim, Jo L., additional, Gallaher, Daniel D., additional, Glanz, Karen, additional, Goodrich, Katheryn M., additional, Gower, Emily, additional, Guevara-Cruz, Martha, additional, Harrison, Earl, additional, Heianza, Yoriko, additional, Herrington, Holly, additional, Hertzler, Steve, additional, Hill Gallant, Kathleen M., additional, Hume, Patricia A., additional, Jackson, Karry A., additional, Jia, Wei, additional, Johnson, Rachel K., additional, Kerr, Deborah A., additional, Kim, Kee-Hong, additional, Kolonel, Laurence N., additional, Kris-Etherton, Penny, additional, Kushner, Robert F., additional, Lai, HuiChuan J., additional, Lampe, Johanna W., additional, Lawler, Thomas P., additional, Lee, Ki Won, additional, Leonard, Maureen M., additional, Lin, Pao-Hwa, additional, Mancino, Juliet, additional, Marcus, Robert, additional, Mares, Julie A., additional, Merkel, Joyce, additional, Millen, Amy E., additional, Millen, Barbara, additional, Nagana Gowda, G.A., additional, Neilson, Andrew P., additional, Niculescu, Mihai D., additional, Ogata, Beth, additional, Ordovas, Jose M., additional, Palmer, Kenya D., additional, Park, Song-Yi, additional, Patterson, Ruth E., additional, Pollin, Toni I., additional, Pomerleau, S., additional, Porter, Kathleen J., additional, Provencher, V., additional, Qi, Lu, additional, Raftery, Daniel, additional, Rajani, Cynthia, additional, Richter, Chesney, additional, Robien, Kim, additional, Rochet, Jean-Christophe, additional, Rock, Cheryl L., additional, Savaiano, Dennis A., additional, Schap, TusaRebecca E., additional, Seburg, Elisabeth M., additional, Seifried, Harold E., additional, Seifried, Rebecca M., additional, Sherwood, Nancy E., additional, Skulas-Ray, Ann, additional, Snetselaar, Linda G., additional, Suarez, Fabrizis L., additional, Subar, Amy F., additional, Svetkey, Laura P., additional, Tambe, Mitali A., additional, Tappenden, Kelly A., additional, Thomas, Alyce M., additional, Thompson, Frances E., additional, Trudo, Sabrina P., additional, Tyson, Crystal C., additional, Vatanparast, Hassan, additional, Villaseñor, Adriana, additional, Warden, Craig H., additional, Weaver, Connie M., additional, Whiting, Susan J., additional, Wills, Hope, additional, Wisniewski, Paul J., additional, Wylie-Rosett, Judith, additional, Zhang, Zhumin, additional, Zheng, Yaguang, additional, and Zoellner, Jamie M., additional
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- 2017
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43. Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation
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Hsueh, Wen-Chi, Nair, Anup K., Kobes, Sayuko, Chen, Peng, Göring, Harald H.H., Pollin, Toni I., Malhotra, Alka, Knowler, William C., Baier, Leslie J., and Hanson, Robert L.
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- 2017
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44. Advances in the Genetics of Youth-Onset Type 2 Diabetes
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Todd, Jennifer N., Srinivasan, Shylaja, and Pollin, Toni I.
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- 2018
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45. The genetic architecture of type 2 diabetes
- Author
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Fuchsberger, Christian, Flannick, Jason, Teslovich, Tanya M., Mahajan, Anubha, Agarwala, Vineeta, Gaulton, Kyle J., Ma, Clement, Fontanillas, Pierre, Moutsianas, Loukas, McCarthy, Davis J., Rivas, Manuel A., Perry, John R. B., Sim, Xueling, Blackwell, Thomas W., Robertson, Neil R., Rayner, N. William, Cingolani, Pablo, Locke, Adam E., Tajes, Juan Fernandez, Highland, Heather M., Dupuis, Josee, Chines, Peter S., Lindgren, Cecilia M., Hartl, Christopher, Jackson, Anne U., Chen, Han, Huyghe, Jeroen R., van de Bunt, Martijn, Pearson, Richard D., Kumar, Ashish, Müller-Nurasyid, Martina, Grarup, Niels, Stringham, Heather M., Gamazon, Eric R., Lee, Jaehoon, Chen, Yuhui, Scott, Robert A., Below, Jennifer E., Chen, Peng, Huang, Jinyan, Go, Min Jin, Stitzel, Michael L., Pasko, Dorota, Parker, Stephen C. J., Varga, Tibor V., Green, Todd, Beer, Nicola L., Day-Williams, Aaron G., Ferreira, Teresa, Fingerlin, Tasha, Horikoshi, Momoko, Hu, Cheng, Huh, Iksoo, Ikram, Mohammad Kamran, Kim, Bong-Jo, Kim, Yongkang, Kim, Young Jin, Kwon, Min-Seok, Lee, Juyoung, Lee, Selyeong, Lin, Keng-Han, Maxwell, Taylor J., Nagai, Yoshihiko, Wang, Xu, Welch, Ryan P., Yoon, Joon, Zhang, Weihua, Barzilai, Nir, Voight, Benjamin F., Han, Bok-Ghee, Jenkinson, Christopher P., Kuulasmaa, Teemu, Kuusisto, Johanna, Manning, Alisa, Ng, Maggie C. Y., Palmer, Nicholette D., Balkau, Beverley, Stančáková, Alena, Abboud, Hanna E., Boeing, Heiner, Giedraitis, Vilmantas, Prabhakaran, Dorairaj, Gottesman, Omri, Scott, James, Carey, Jason, Kwan, Phoenix, Grant, George, Smith, Joshua D., Neale, Benjamin M., Purcell, Shaun, Butterworth, Adam S., Howson, Joanna M. M., Lee, Heung Man, Lu, Yingchang, Kwak, Soo-Heon, Zhao, Wei, Danesh, John, Lam, Vincent K. L., Park, Kyong Soo, Saleheen, Danish, So, Wing Yee, Tam, Claudia H. T., Afzal, Uzma, Aguilar, David, Arya, Rector, Aung, Tin, Chan, Edmund, Navarro, Carmen, Cheng, Ching-Yu, Palli, Domenico, Correa, Adolfo, Curran, Joanne E., Rybin, Denis, Farook, Vidya S., Fowler, Sharon P., Freedman, Barry I., Griswold, Michael, Hale, Daniel Esten, Hicks, Pamela J., Khor, Chiea-Chuen, Kumar, Satish, Lehne, Benjamin, Thuillier, Dorothée, Lim, Wei Yen, Liu, Jianjun, van der Schouw, Yvonne T., Loh, Marie, Musani, Solomon K., Puppala, Sobha, Scott, William R., Yengo, Loïc, Tan, Sian-Tsung, Taylor Jr., Herman A., Thameem, Farook, Wilson, Gregory, Wong, Tien Yin, Njølstad, Pål Rasmus, Levy, Jonathan C., Mangino, Massimo, Bonnycastle, Lori L., Schwarzmayr, Thomas, Fadista, João, Surdulescu, Gabriela L., Herder, Christian, Groves, Christopher J., Wieland, Thomas, Bork-Jensen, Jette, Brandslund, Ivan, Christensen, Cramer, Koistinen, Heikki A., Doney, Alex S. F., Kinnunen, Leena, Esko, Tõnu, Farmer, Andrew J., Hakaste, Liisa, Hodgkiss, Dylan, Kravic, Jasmina, Lyssenko, Valeriya, Hollensted, Mette, Jørgensen, Marit E., Jørgensen, Torben, Ladenvall, Claes, Justesen, Johanne Marie, Käräjämäki, Annemari, Kriebel, Jennifer, Rathmann, Wolfgang, Lannfelt, Lars, Lauritzen, Torsten, Narisu, Narisu, Linneberg, Allan, Melander, Olle, Milani, Lili, Neville, Matt, Orho-Melander, Marju, Qi, Lu, Qi, Qibin, Roden, Michael, Rolandsson, Olov, Swift, Amy, Rosengren, Anders H., Stirrups, Kathleen, Wood, Andrew R., Mihailov, Evelin, Blancher, Christine, Carneiro, Mauricio O., Maguire, Jared, Poplin, Ryan, Shakir, Khalid, Fennell, Timothy, DePristo, Mark, Hrabé de Angelis, Martin, Deloukas, Panos, Gjesing, Anette P., Jun, Goo, Nilsson, Peter, Murphy, Jacquelyn, Onofrio, Robert, Thorand, Barbara, Hansen, Torben, Meisinger, Christa, Hu, Frank B., Isomaa, Bo, Karpe, Fredrik, Liang, Liming, Peters, Annette, Huth, Cornelia, O’Rahilly, Stephen P., Palmer, Colin N. A., Pedersen, Oluf, Rauramaa, Rainer, Tuomilehto, Jaakko, Salomaa, Veikko, Watanabe, Richard M., Syvänen, Ann-Christine, Bergman, Richard N., Bharadwaj, Dwaipayan, Bottinger, Erwin P., Cho, Yoon Shin, Chandak, Giriraj R., Chan, Juliana C. N., Chia, Kee Seng, Daly, Mark J., Ebrahim, Shah B., Langenberg, Claudia, Elliott, Paul, Jablonski, Kathleen A., Lehman, Donna M., Jia, Weiping, Ma, Ronald C. W., Pollin, Toni I., Sandhu, Manjinder, Tandon, Nikhil, Froguel, Philippe, Barroso, Inês, Teo, Yik Ying, Zeggini, Eleftheria, Loos, Ruth J. F., Small, Kerrin S., Ried, Janina S., DeFronzo, Ralph A., Grallert, Harald, Glaser, Benjamin, Metspalu, Andres, Wareham, Nicholas J., Walker, Mark, Banks, Eric, Gieger, Christian, Ingelsson, Erik, Im, Hae Kyung, Illig, Thomas, Franks, Paul W., Buck, Gemma, Trakalo, Joseph, Buck, David, Prokopenko, Inga, Mägi, Reedik, Lind, Lars, Farjoun, Yossi, Owen, Katharine R., Gloyn, Anna L., Strauch, Konstantin, Tuomi, Tiinamaija, Kooner, Jaspal Singh, Lee, Jong-Young, Park, Taesung, Donnelly, Peter, Morris, Andrew D., Hattersley, Andrew T., Bowden, Donald W., Collins, Francis S., Atzmon, Gil, Chambers, John C., Spector, Timothy D., Laakso, Markku, Strom, Tim M., Bell, Graeme I., Blangero, John, Duggirala, Ravindranath, Tai, E. Shyong, McVean, Gilean, Hanis, Craig L., Wilson, James G., Seielstad, Mark, Frayling, Timothy M., Meigs, James B., Cox, Nancy J., Sladek, Rob, Lander, Eric S., Gabriel, Stacey, Burtt, Noël P., Mohlke, Karen L., Meitinger, Thomas, Groop, Leif, Abecasis, Goncalo, Florez, Jose C., Scott, Laura J., Morris, Andrew P., Kang, Hyun Min, Boehnke, Michael, Altshuler, David, and McCarthy, Mark I.
- Published
- 2016
- Full Text
- View/download PDF
46. Undiagnosed MODY: Time for Action
- Author
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Kleinberger, Jeffrey W. and Pollin, Toni I.
- Published
- 2015
- Full Text
- View/download PDF
47. Seasonality of mood and behavior in the Old Order Amish
- Author
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Raheja, Uttam K., Stephens, Sarah H., Mitchell, Braxton D., Rohan, Kelly J., Vaswani, Dipika, Balis, Theodora G., Nijjar, Gagan V., Sleemi, Aamar, Pollin, Toni I., Ryan, Kathleen, Reeves, Gloria M., Weitzel, Nancy, Morrissey, Mary, Yousufi, Hassaan, Langenberg, Patricia, Shuldiner, Alan R., and Postolache, Teodor T.
- Published
- 2013
- Full Text
- View/download PDF
48. Biallelic truncating variants in the muscular A‐type lamin‐interacting protein ( MLIP ) gene cause myopathy with hyperCKemia
- Author
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Salzer‐Sheelo, Liat, primary, Fellner, Avi, additional, Orenstein, Naama, additional, Bazak, Lily, additional, Lev‐El Halabi, Noa, additional, Daue, Melanie, additional, Smirin‐Yosef, Pola, additional, Van Hout, Cristopher V., additional, Fellig, Yakov, additional, Ruhrman‐Shahar, Noa, additional, Staples, Jeffrey, additional, Magal, Nurit, additional, Shuldiner, Alan R., additional, Mitchell, Braxton D., additional, Nevo, Yoram, additional, Pollin, Toni I., additional, Gonzaga‐Jauregui, Claudia, additional, and Basel‐Salmon, Lina, additional
- Published
- 2022
- Full Text
- View/download PDF
49. A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection
- Author
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Pollin, Toni I., Damcott, Coleen M., Shen, Haiqing, Ott, Sandra H., Shelton, John, Horenstein, Richard B., Post, Wendy, McLenithan, John C., Bielak, Lawrence F., Peyser, Patricia A., Mitchell, Braxton D., Miller, Michael, O'Connell, Jeffrey R., and Shuldiner, Alan R.
- Published
- 2008
- Full Text
- View/download PDF
50. Investigations of the Y Chromosome, Male Founder Structure and YSTR Mutation Rates in the Old Order Amish
- Author
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Pollin, Toni I., McBride, Daniel J., Agarwala, Richa, Schäffer, Alejandro A., Shuldiner, Alan R., Mitchell, Braxton D., and O’Connell, Jeffrey R.
- Published
- 2008
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