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1. Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank

Author

Ryu, Justine, Rämö, Joel T., Jurgens, Sean J., Palotie, Aarno, Daly, Mark, Riley-Gills, Bridget, Jacob, Howard, Viollet, Coralie, Petrovski, Slavé, Chen, Chia-Yen, John, Sally, Okafo, George, Plenge, Robert, Maranville, Joseph, McCarthy, Mark, Pendergrass, Rion, Ehm, Margaret G., Auro, Kirsi, Longerich, Simonne, Mälarstig, Anders, Vlahiotis, Anna, Klinger, Katherine, Chatelain, Clement, Gossel, Matthias, Estrada, Karol, Graham, Robert, Waterworth, Dawn, O´Donnell, Chris, Renaud, Nicole, Mäkelä, Tomi P., Kaprio, Jaakko, Ruddock, Minna, Virolainen, Petri, Hakanen, Antti, Kilpi, Terhi, Perola, Markus, Partanen, Jukka, Raivio, Taneli, Tikkanen, Jani, Serpi, Raisa, Kristiansson, Kati, Kosma, Veli-Matti, Laukkanen, Jari, Hautalahti, Marco, Tuovila, Outi, Waring, Jeffrey, Riley-Gillis, Bridget, Rahimov, Fedik, Tachmazidou, Ioanna, Chen, Chia-Yen, Ding, Zhihao, Jung, Marc, Tuoken, Hanati, Biswas, Shameek, Pendergrass, Rion, Ehm, Margaret G., Pulford, David, Raghavan, Neha, Huertas-Vazquez, Adriana, Sul, Jae-Hoon, Mälarstig, Anders, Hu, Xinli, Hedman, Åsa, Klinger, Katherine, Graham, Robert, Waterworth, Dawn, Renaud, Nicole, Obeidat, Ma´en, Chung, Jonathan, Zierer, Jonas, Niemi, Mari, Ripatti, Samuli, Schleutker, Johanna, Perola, Markus, Arvas, Mikko, Carpén, Olli, Hinttala, Reetta, Kettunen, Johannes, Mannermaa, Arto, Aalto-Setälä, Katriina, Kähönen, Mika, Laukkanen, Jari, Mäkelä, Johanna, Kälviäinen, Reetta, Julkunen, Valtteri, Soininen, Hilkka, Remes, Anne, Hiltunen, Mikko, Peltola, Jukka, Raivio, Minna, Tienari, Pentti, Rinne, Juha, Kallionpää, Roosa, Partanen, Juulia, Ziemann, Adam, Smaoui, Nizar, Lehtonen, Anne, Eaton, Susan, Runz, Heiko, Lahdenperä, Sanni, Biswas, Shameek, Bowers, Natalie, Teng, Edmond, Pendergrass, Rion, Xu, Fanli, Pulford, David, Auro, Kirsi, Addis, Laura, Eicher, John, Li, Qingqin S., He, Karen, Khramtsova, Ekaterina, Raghavan, Neha, Färkkilä, Martti, Koskela, Jukka, Pikkarainen, Sampsa, Jussila, Airi, Kaukinen, Katri, Blomster, Timo, Kiviniemi, Mikko, Voutilainen, Markku, Daly, Mark, Waring, Jeffrey, Smaoui, Nizar, Rahimov, Fedik, Lehtonen, Anne, Lu, Tim, Bowers, Natalie, Pendergrass, Rion, McCarthy, Linda, Hart, Amy, Guan, Meijian, Miller, Jason, Kalpala, Kirsi, Miller, Melissa, Hu, Xinli, Eklund, Kari, Palomäki, Antti, Isomäki, Pia, Pirilä, Laura, Kaipiainen-Seppänen, Oili, Huhtakangas, Johanna, Mars, Nina, Waring, Jeffrey, Rahimov, Fedik, Lertratanakul, Apinya, Smaoui, Nizar, Lehtonen, Anne, Viollet, Coralie, Hochfeld, Marla, Bowers, Natalie, Pendergrass, Rion, Gordillo, Jorge Esparza, Auro, Kirsi, Waterworth, Dawn, Farias, Fabiana, Kalpala, Kirsi, Bing, Nan, Hu, Xinli, Laitinen, Tarja, Pelkonen, Margit, Kauppi, Paula, Kankaanranta, Hannu, Harju, Terttu, Lahesmaa, Riitta, Smaoui, Nizar, Viollet, Coralie, Eaton, Susan, Chen, Hubert, Pendergrass, Rion, Bowers, Natalie, Betts, Joanna, Auro, Kirsi, Mishra, Rajashree, Mouded, Majd, Ngo, Debby, Niiranen, Teemu, Vaura, Felix, Salomaa, Veikko, Metsärinne, Kaj, Aittokallio, Jenni, Kähönen, Mika, Hernesniemi, Jussi, Gordin, Daniel, Sinisalo, Juha, Taskinen, Marja-Riitta, Tuomi, Tiinamaija, Hiltunen, Timo, Laukkanen, Jari, Elliott, Amanda, Reeve, Mary Pat, Ruotsalainen, Sanni, Paul, Dirk, Bowers, Natalie, Pendergrass, Rion, Chu, Audrey, Auro, Kirsi, Reilly, Dermot, Mendelson, Mike, Parkkinen, Jaakko, Miller, Melissa, Meretoja, Tuomo, Joensuu, Heikki, Carpén, Olli, Mattson, Johanna, Salminen, Eveliina, Auranen, Annika, Karihtala, Peeter, Auvinen, Päivi, Elenius, Klaus, Schleutker, Johanna, Pitkänen, Esa, Mars, Nina, Daly, Mark, Popovic, Relja, Waring, Jeffrey, Riley-Gillis, Bridget, Lehtonen, Anne, Fabre, Margarete, Schutzman, Jennifer, Bowers, Natalie, Pendergrass, Rion, Kulkarni, Diptee, Auro, Kirsi, Porello, Alessandro, Loboda, Andrey, Lehtonen, Heli, McDonough, Stefan, Vuoti, Sauli, Kaarniranta, Kai, Turunen, Joni A., Ollila, Terhi, Uusitalo, Hannu, Karjalainen, Juha, Pitkänen, Esa, Liu, Mengzhen, Runz, Heiko, Loomis, Stephanie, Strauss, Erich, Bowers, Natalie, Chen, Hao, Pendergrass, Rion, Tasanen, Kaisa, Huilaja, Laura, Hannula-Jouppi, Katariina, Salmi, Teea, Peltonen, Sirkku, Koulu, Leena, Smaoui, Nizar, Rahimov, Fedik, Lehtonen, Anne, Choy, David, Pendergrass, Rion, Waterworth, Dawn, Kalpala, Kirsi, Wu, Ying, Pussinen, Pirkko, Salminen, Aino, Salo, Tuula, Rice, David, Nieminen, Pekka, Palotie, Ulla, Siponen, Maria, Suominen, Liisa, Mäntylä, Päivi, Gursoy, Ulvi, Anttonen, Vuokko, Sipilä, Kirsi, Pendergrass, Rion, Laivuori, Hannele, Kurra, Venla, Kotaniemi-Talonen, Laura, Heikinheimo, Oskari, Kalliala, Ilkka, Aaltonen, Lauri, Jokimaa, Varpu, Kettunen, Johannes, Vääräsmäki, Marja, Uimari, Outi, Morin-Papunen, Laure, Niinimäki, Maarit, Piltonen, Terhi, Kivinen, Katja, Widen, Elisabeth, Tukiainen, Taru, Reeve, Mary Pat, Daly, Mark, Välimäki, Niko, Laakkonen, Eija, Tyrmi, Jaakko, Silven, Heidi, Sliz, Eeva, Arffman, Riikka, Savukoski, Susanna, Laisk, Triin, Pujol, Natalia, Liu, Mengzhen, Riley-Gillis, Bridget, Pendergrass, Rion, Kumar, Janet, Auro, Kirsi, Hovatta, Iiris, Chen, Chia-Yen, Isometsä, Erkki, Ollila, Hanna, Suvisaari, Jaana, Mäkitie, Antti, Bizaki-Vallaskangas, Argyro, Toppila-Salmi, Sanna, Willberg, Tytti, Saarentaus, Elmo, Aarnisalo, Antti, Salminen, Eveliina, Rahikkala, Elisa, Kettunen, Johannes, Aittomäki, Kristiina, Åberg, Fredrik, Kurki, Mitja, Ripatti, Samuli, Daly, Mark, Karjalainen, Juha, Havulinna, Aki, Mehtonen, Juha, Palta, Priit, Hassan, Shabbeer, Della Briotta Parolo, Pietro, Zhou, Wei, Maasha, Mutaamba, Hassan, Shabbeer, Lemmelä, Susanna, Rivas, Manuel, Palotie, Aarno, Liu, Aoxing, Lehisto, Arto, Ganna, Andrea, Llorens, Vincent, Laivuori, Hannele, Tukiainen, Taru, Reeve, Mary Pat, Heyne, Henrike, Mars, Nina, Rämö, Joel, Saarentaus, Elmo, Ollila, Hanna, Rodosthenous, Rodos, Strausz, Satu, Palotie, Tuula, Palin, Kimmo, Garcia-Tabuenca, Javier, Siirtola, Harri, Kiiskinen, Tuomo, Lee, Jiwoo, Tsuo, Kristin, Elliott, Amanda, Kristiansson, Kati, Arvas, Mikko, Hyvärinen, Kati, Ritari, Jarmo, Carpén, Olli, Kettunen, Johannes, Pylkäs, Katri, Sliz, Eeva, Karjalainen, Minna, Mantere, Tuomo, Kangasniemi, Eeva, Heikkinen, Sami, Mannermaa, Arto, Laakkonen, Eija, Pitkänen, Nina, Lessard, Samuel, Chatelain, Clément, Kallio, Lila, Wahlfors, Tiina, Partanen, Jukka, Punkka, Eero, Serpi, Raisa, Siltanen, Sanna, Kosma, Veli-Matti, Kuopio, Teijo, Jalanko, Anu, Shen, Huei-Yi, Kajanne, Risto, Aavikko, Mervi, Cooper, Helen, Öller, Denise, Leinonen, Rasko, Palin, Henna, Linna, Malla-Maria, Kurki, Mitja, Karjalainen, Juha, Della Briotta Parolo, Pietro, Lehisto, Arto, Mehtonen, Juha, Zhou, Wei, Kanai, Masahiro, Maasha, Mutaamba, Zheng, Zhili, Laivuori, Hannele, Havulinna, Aki, Lemmelä, Susanna, Kiiskinen, Tuomo, Lahtela, L. Elisa, Kaunisto, Mari, Kilpeläinen, Elina, Sipilä, Timo P., Dada, Oluwaseun Alexander, Ghazal, Awaisa, Kytölä, Anastasia, Weldatsadik, Rigbe, Ruotsalainen, Sanni, Donner, Kati, Sipilä, Timo P., Loukola, Anu, Laiho, Päivi, Sistonen, Tuuli, Kaiharju, Essi, Laukkanen, Markku, Järvensivu, Elina, Lähteenmäki, Sini, Männikkö, Lotta, Wong, Regis, Toivola, Auli, Brunfeldt, Minna, Mattsson, Hannele, Kristiansson, Kati, Lemmelä, Susanna, Koskelainen, Sami, Hiekkalinna, Tero, Paajanen, Teemu, Palta, Priit, Luo, Shuang, Laitinen, Tarja, Reeve, Mary Pat, Padmanabhuni, Shanmukha Sampath, Niemi, Marianna, Siirtola, Harri, Gracia-Tabuenca, Javier, Helminen, Mika, Luukkaala, Tiina, Vähätalo, Iida, Tammerluoto, Jyrki, Hautalahti, Marco, Mäkelä, Johanna, Smith, Sarah, Southerington, Tom, Lehto, Petri, Niiranen, Teemu, Sanna-Cherchi, Simone, Bauer, Kenneth A., Haj, Amelia, Choi, Seung Hoan, Palotie, Aarno, Daly, Mark, Ellinor, Patrick T., and Bendapudi, Pavan K.

Abstract

•Population-scale genomics (N = 937 939) allowed assembly of a large FVL/PTGM double-heterozygous cohort while mitigating ascertainment bias.•FVL/PTGM DH appeared to be more common than FVL homozygosity and conferred a similar risk of venous thrombosis.

Published
2024
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2. Rare coding variant analysis for human diseases across biobanks and ancestries

Author

Jurgens, Sean J., Wang, Xin, Choi, Seung Hoan, Weng, Lu-Chen, Koyama, Satoshi, Pirruccello, James P., Nguyen, Trang, Smadbeck, Patrick, Jang, Dongkeun, Chaffin, Mark, Walsh, Roddy, Roselli, Carolina, Elliott, Amanda L., Wijdeveld, Leonoor F. J. M., Biddinger, Kiran J., Kany, Shinwan, Rämö, Joel T., Natarajan, Pradeep, Aragam, Krishna G., Flannick, Jason, Burtt, Noël P., Bezzina, Connie R., Lubitz, Steven A., Lunetta, Kathryn L., and Ellinor, Patrick T.

Abstract

Large-scale sequencing has enabled unparalleled opportunities to investigate the role of rare coding variation in human phenotypic variability. Here, we present a pan-ancestry analysis of sequencing data from three large biobanks, including the All of Us research program. Using mixed-effects models, we performed gene-based rare variant testing for 601 diseases across 748,879 individuals, including 155,236 with ancestry dissimilar to European. We identified 363 significant associations, which highlighted core genes for the human disease phenome and identified potential novel associations, including UBR3for cardiometabolic disease and YLPM1for psychiatric disease. Pan-ancestry burden testing represented an inclusive and useful approach for discovery in diverse datasets, although we also highlight the importance of ancestry-specific sensitivity analyses in this setting. Finally, we found that effect sizes for rare protein-disrupting variants were concordant between samples similar to European ancestry and other genetic ancestries (βDeming= 0.7–1.0). Our results have implications for multi-ancestry and cross-biobank approaches in sequencing association studies for human disease.

Published
2024
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3. Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes

Author

Elliott, Amanda, Walters, Raymond K., Pirinen, Matti, Kurki, Mitja, Junna, Nella, Goldstein, Jacqueline I., Reeve, Mary Pat, Siirtola, Harri, Lemmelä, Susanna M., Turley, Patrick, Lahtela, Elisa, Mehtonen, Juha, Reis, Kadri, Elnahas, Abdelrahman G., Reigo, Anu, Palta, Priit, Esko, Tõnu, Mägi, Reedik, Palotie, Aarno, Daly, Mark J., and Widén, Elisabeth

Abstract

Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide1,2. GDM is related to an increased lifetime risk of type 2 diabetes (T2D)1–3, with over a third of women developing T2D within 15 years of their GDM diagnosis. The diseases are hypothesized to share a genetic predisposition1–7, but few studies have sought to uncover the genetic underpinnings of GDM. Most studies have evaluated the impact of T2D loci only8–10, and the three prior genome-wide association studies of GDM11–13have identified only five loci, limiting the power to assess to what extent variants or biological pathways are specific to GDM. We conducted the largest genome-wide association study of GDM to date in 12,332 cases and 131,109 parous female controls in the FinnGen study and identified 13 GDM-associated loci, including nine new loci. Genetic features distinct from T2D were identified both at the locus and genomic scale. Our results suggest that the genetics of GDM risk falls into the following two distinct categories: one part conventional T2D polygenic risk and one part predominantly influencing mechanisms disrupted in pregnancy. Loci with GDM-predominant effects map to genes related to islet cells, central glucose homeostasis, steroidogenesis and placental expression.

Published
2024
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4. Social Determinants of Health Among Pregnant Hispanic Women and Associated Psychological Outcomes

Author

Baumgartel, Kelley, Saint Fleur, Angeline, Prescott, Stephanie, Fanfan, Dany, Elliott, Amanda, Yoo, Ji Youn, Koerner, Rebecca, Harringon, Monalisa, Dutra, Samia Ozorio, Duffy, Allyson, Ji, Ming, and Groer, Maureen W.

Abstract

Background: There has been a concerning surge in maternal mortality among Hispanic women in recent years. Compromised mental health is present in nearly half of all maternal deaths, and risk factors include poor social support and depression. Objective: Among Hispanic women who were born in the USA versus those not born in the USA, we sought to describe and compare social determinants of health and maternal psychological outcomes. Methods: Hispanic pregnant women (n= 579) were recruited from two clinics in Tampa, FL, and completed various questionnaires related to social determinants of health, depression, stress, and social support. Statistical Analysis: Descriptive statistics, t-tests, and chi-square analyses were used to compare relationships between maternal nativity and subsequent psychosocial outcomes. Pearson correlations were used to explore associations between variables. Results: Hispanic pregnant women who were not born in the USA had lower incomes (χ2= 5.68, p= 0.018, df = 1), were more likely to be unemployed (χ2= 8.12, p= 0.004, df = 1), and were more likely to be married (χ2= 4.79, p= 0.029, df = 1) when compared with those born in the USA. Those not born in the USA reported lower social support (t= 3.92, p<0.001), specifically the tangible (t= 4.18, p< 0.001) and emotional support subscales (t= 4.4, p<0.001). When compared with those born in the USA, foreign-born Hispanic women reported less stress (t= 3.23, p= 0.001) and depression (t= 3.3, p= 0.002). Conclusion: Pregnant Hispanic women not born in the USA are at increased risk for suboptimal social determinants of health, including less social support. US-born women were more stressed and depressed and had higher BMIs.

Published
2024
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5. Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study

Author

Miller, Eliza C., Kauko, Anni, Tom, Sarah E., Laivuori, Hannele, Niiranen, Teemu, Bello, Natalie A., Palotie, Aarno, Daly, Mark, Riley-Gills, Bridget, Jacob, Howard, Paul, Dirk, Matakidou, Athena, Platt, Adam, Runz, Heiko, John, Sally, Okafo, George, Lawless, Nathan, Salminen-Mankonen, Heli, Plenge, Robert, Maranville, Joseph, McCarthy, Mark, Hunkapiller, Julie, Ehm, Margaret G., Auro, Kirsi, Longerich, Simonne, Fox, Caroline, Mälarstig, Anders, Klinger, Katherine, Raipal, Deepak, Green, Eric, Graham, Robert, Yang, Robert, Donnell, Chris O´, Mäkelä, Tomi P., Kaprio, Jaakko, Virolainen, Petri, Hakanen, Antti, Kilpi, Terhi, Perola, Markus, Partanen, Jukka, Pitkäranta, Anne, Raivio, Taneli, Serpi, Raisa, Laitinen, Tarja, Kosma, Veli-Matti, Laukkanen, Jari, Hautalahti, Marco, Tuovila, Outi, Pakkanen, Raimo, Waring, Jeffrey, Riley-Gillis, Bridget, Rahimov, Fedik, Tachmazidou, Ioanna, Chen, Chia-Yen, Runz, Heiko, Ding, Zhihao, Jung, Marc, Biswas, Shameek, Pendergrass, Rion, Hunkapiller, Julie, Ehm, Margaret G., Pulford, David, Raghavan, Neha, Huertas-Vazquez, Adriana, Sul, Jae-Hoon, Mälarstig, Anders, Hu, Xinli, Klinger, Katherine, Graham, Robert, Green, Eric, Mozaffari, Sahar, Waterworth, Dawn, Renaud, Nicole, Obeidat, Ma´en, Ripatti, Samuli, Schleutker, Johanna, Perola, Markus, Arvas, Mikko, Carpén, Olli, Hinttala, Reetta, Kettunen, Johannes, Mannermaa, Arto, Aalto-Setälä, Katriina, Kähönen, Mika, Laukkanen, Jari, Mäkelä, Johanna, Kälviäinen, Reetta, Julkunen, Valtteri, Soininen, Hilkka, Remes, Anne, Hiltunen, Mikko, Peltola, Jukka, Raivio, Minna, Tienari, Pentti, Rinne, Juha, Kallionpää, Roosa, Partanen, Juulia, Abbasi, Ali, Ziemann, Adam, Smaoui, Nizar, Lehtonen, Anne, Eaton, Susan, Runz, Heiko, Lahdenperä, Sanni, Biswas, Shameek, Hunkapiller, Julie, Bowers, Natalie, Teng, Edmond, Pendergrass, Rion, Xu, Fanli, Pulford, David, Auro, Kirsi, Addis, Laura, Eicher, John, Li, Qingqin S, He, Karen, Khramtsova, Ekaterina, Raghavan, Neha, Färkkilä, Martti, Koskela, Jukka, Pikkarainen, Sampsa, Jussila, Airi, Kaukinen, Katri, Blomster, Timo, Kiviniemi, Mikko, Voutilainen, Markku, Daly, Mark, Abbasi, Ali, Waring, Jeffrey, Smaoui, Nizar, Rahimov, Fedik, Lehtonen, Anne, Lu, Tim, Bowers, Natalie, Pendergrass, Rion, McCarthy, Linda, Hart, Amy, Guan, Meijian, Miller, Jason, Kalpala, Kirsi, Miller, Melissa, Hu, Xinli, Eklund, Kari, Palomäki, Antti, Isomäki, Pia, Pirilä, Laura, Kaipiainen-Seppänen, Oili, Huhtakangas, Johanna, Mars, Nina, Abbasi, Ali, Waring, Jeffrey, Rahimov, Fedik, Lertratanakul, Apinya, Smaoui, Nizar, Lehtonen, Anne, Hochfeld, Marla, Bowers, Natalie, Pendergrass, Rion, Esparza Gordillo, Jorge, Auro, Kirsi, Waterworth, Dawn, Farias, Fabiana, Kalpala, Kirsi, Bing, Nan, Hu, Xinli, Laitinen, Tarja, Pelkonen, Margit, Kauppi, Paula, Kankaanranta, Hannu, Harju, Terttu, Lahesmaa, Riitta, Smaoui, Nizar, Lassi, Glenda, Eaton, Susan, Chen, Hubert, Pendergrass, Rion, Bowers, Natalie, Betts, Joanna, Auro, Kirsi, Mishra, Rajashree, Mouded, Majd, Ngo, Debby, Vaura, Felix, Salomaa, Veikko, Metsärinne, Kaj, Aittokallio, Jenni, Kähönen, Mika, Hernesniemi, Jussi, Gordin, Daniel, Sinisalo, Juha, Taskinen, Marja-Riitta, Tuomi, Tiinamaija, Hiltunen, Timo, Laukkanen, Jari, Elliott, Amanda, Pat Reeve, Mary, Ruotsalainen, Sanni, Challis, Benjamin, Paul, Dirk, Hunkapiller, Julie, Bowers, Natalie, Pendergrass, Rion, Chu, Audrey, Auro, Kirsi, Reilly, Dermot, Mendelson, Mike, Parkkinen, Jaakko, Miller, Melissa, Meretoja, Tuomo, Joensuu, Heikki, Carpén, Olli, Mattson, Johanna, Salminen, Eveliina, Auranen, Annika, Karihtala, Peeter, Elenius, Päivi Auvinen Klaus, Schleutker, Johanna, Pitkänen, Esa, Mars, Nina, Daly, Mark, Popovic, Relja, Waring, Jeffrey, Riley-Gillis, Bridget, Lehtonen, Anne, Schutzman, Jennifer, Hunkapiller, Julie, Bowers, Natalie, Pendergrass, Rion, Kulkarni, Diptee, Auro, Kirsi, Porello, Alessandro, Loboda, Andrey, Lehtonen, Heli, McDonough, Stefan, Vuoti, Sauli, Kaarniranta, Kai, Turunen, Joni A, Ollila, Terhi, Uusitalo, Hannu, Karjalainen, Juha, Pitkänen, Esa, Liu, Mengzhen, Runz, Heiko, Loomis, Stephanie, Strauss, Erich, Bowers, Natalie, Chen, Hao, Pendergrass, Rion, Tasanen, Kaisa, Huilaja, Laura, Hannula-Jouppi, Katariina, Salmi, Teea, Peltonen, Sirkku, Koulu, Leena, Smaoui, Nizar, Rahimov, Fedik, Lehtonen, Anne, Choy, David, Pendergrass, Rion, Waterworth, Dawn, Kalpala, Kirsi, Wu, Ying, Pussinen, Pirkko, Salminen, Aino, Salo, Tuula, Rice, David, Nieminen, Pekka, Palotie, Ulla, Siponen, Maria, Suominen, Liisa, Mäntylä, Päivi, Gursoy, Ulvi, Anttonen, Vuokko, Sipilä, Kirsi, Pendergrass, Rion, Kurra, Venla, Kotaniemi-Talonen, Laura, Heikinheimo, Oskari, Kalliala, Ilkka, Aaltonen, Lauri, Jokimaa, Varpu, Kettunen, Johannes, Vääräsmäki, Marja, Uimari, Outi, Morin-Papunen, Laure, Niinimäki, Maarit, Piltonen, Terhi, Kivinen, Katja, Widen, Elisabeth, Tukiainen, Taru, Pat Reeve, Mary, Daly, Mark, Välimäki, Niko, Laakkonen, Eija, Tyrmi, Jaakko, Silven, Heidi, Sliz, Eeva, Arffman, Riikka, Savukoski, Susanna, Laisk, Triin, Pujol, Natalia, Liu, Mengzhen, Riley-Gillis, Bridget, Pendergrass, Rion, Kumar, Janet, Auro, Kirsi, Hovatta, Iiris, Chen, Chia-Yen, Isometsä, Erkki, Ollila, Hanna, Suvisaari, Jaana, Damm Als, Thomas, Mäkitie, Antti, Bizaki-Vallaskangas, Argyro, Toppila-Salmi, Sanna, Willberg, Tytti, Saarentaus, Elmo, Aarnisalo, Antti, Salminen, Eveliina, Rahikkala, Elisa, Kettunen, Johannes, Aittomäki, Kristiina, Åberg, Fredrik, Kurki, Mitja, Ripatti, Samuli, Daly, Mark, Karjalainen, Juha, Havulinna, Aki, Mehtonen, Juha, Palta, Priit, Hassan, Shabbeer, Della, Pietro, Parolo, Briotta, Zhou, Wei, Maasha, Mutaamba, Hassan, Shabbeer, Lemmelä, Susanna, Rivas, Manuel, Niemi, Mari E., Palotie, Aarno, Liu, Aoxing, Lehisto, Arto, Ganna, Andrea, Llorens, Vincent, Tukiainen, Taru, Pat Reeve, Mary, Heyne, Henrike, Mars, Nina, Rämö, Joel, Saarentaus, Elmo, Ollila, Hanna, Rodosthenous, Rodos, Strausz, Satu, Palotie, Tuula, Palin, Kimmo, Garcia-Tabuenca, Javier, Siirtola, Harri, Kiiskinen, Tuomo, Lee, Jiwoo, Tsuo, Kristin, Elliott, Amanda, Kristiansson, Kati, Arvas, Mikko, Hyvärinen, Kati, Ritari, Jarmo, Carpén, Olli, Kettunen, Johannes, Pylkäs, Katri, Sliz, Eeva, Karjalainen, Minna, Mantere, Tuomo, Kangasniemi, Eeva, Heikkinen, Sami, Mannermaa, Arto, Laakkonen, Eija, Pitkänen, Nina, Lessard, Samuel, Chatelain, Clément, Terho, Perttu, Soini, Sirpa, Partanen, Jukka, Punkka, Eero, Serpi, Raisa, Siltanen, Sanna, Kosma, Veli-Matti, Kuopio, Teijo, Jalanko, Anu, Shen, Huei-Yi, Kajanne, Risto, Aavikko, Mervi, Palin, Henna, Linna, Malla-Maria, Kurki, Mitja, Karjalainen, Juha, Della, Pietro, Parolo, Briotta, Lehisto, Arto, Mehtonen, Juha, Zhou, Wei, Kanai, Masahiro, Maasha, Mutaamba, Havulinna, Aki, Lemmelä, Susanna, Kiiskinen, Tuomo, Elisa Lahtela, L., Kaunisto, Mari, Kilpeläinen, Elina, Sipilä, Timo P., Alexander Dada, Oluwaseun, Ghazal, Awaisa, Kytölä, Anastasia, Weldatsadik, Rigbe, Ruotsalainen, Sanni, Donner, Kati, Sipilä, Timo P., Loukola, Anu, Laiho, Päivi, Sistonen, Tuuli, Kaiharju, Essi, Laukkanen, Markku, Järvensivu, Elina, Lähteenmäki, Sini, Männikkö, Lotta, Wong, Regis, Toivola, Auli, Brunfeldt, Minna, Mattsson, Hannele, Kristiansson, Kati, Lemmelä, Susanna, Koskelainen, Sami, Hiekkalinna, Tero, Paajanen, Teemu, Palta, Priit, Pärn, Kalle, Kals, Mart, Luo, Shuang, Laitinen, Tarja, Pat Reeve, Mary, Sampath Padmanabhuni, Shanmukha, Niemi, Marianna, Siirtola, Harri, Gracia-Tabuenca, Javier, Helminen, Mika, Luukkaala, Tiina, Vähätalo, Iida, Pitkänen, Jyrki, Hautalahti, Marco, Mäkelä, Johanna, Smith, Sarah, and Southerington, Tom

Published
2023
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6. Enhancing Caregiver Health: Findings from the Resources for Enhancing Alzheimer's Caregiver Health II Intervention

Author

Elliott, Amanda F., Burgio, Louis D., and DeCoster, Jamie

Subjects
Depression, Mental -- Social aspects, Alzheimer's disease -- Social aspects, Caregivers -- Social aspects, Health, Seniors
Abstract

To authenticate to the full-text of this article, please visit this link: http://dx.doi.org/10.1111/j.1532-5415.2009.02631.x Byline: Amanda F. Elliott (*[dagger]), Louis D. Burgio ([dagger][double dagger]), Jamie DeCoster ([dagger]s.) Keywords: dementia caregiving; physical health; mental health Abstract: OBJECTIVES: To examine the relationships between changes from baseline to post-Resources for Enhancing Alzheimer's Caregiver Health (REACH) intervention in caregiver (CG) self-reported health, burden, and bother. DESIGN: Randomized, multisite clinical trial. SETTING: CG and care recipient (CR) homes in five U.S. cities. PARTICIPANTS: Four hundred ninety-five dementia CG and CR dyads (169 Hispanic, 160 white, and 166 African American) receiving intervention and their controls. INTERVENTION: CGs were assigned to the REACH intervention or a no-treatment control group. Intervention subjects received individual risk profiles and the REACH intervention through nine in-home and three telephone sessions over 6 months. Control subjects received two brief 'check-in' telephone calls during this 6-month period. MEASUREMENTS: The primary outcome was change in CG health status from baseline to after the intervention. Secondary outcomes were CG burden and bother after the intervention. RESULTS: After the intervention, CGs reported better self-rated health, sleep quality, physical health, and emotional health, which was related to less burden and bother with their caregiving role than for CGs not receiving the intervention. Changes in depression appeared to mediate these relationships. Several racial and ethnic group differences existed in physical and emotional health, as well as in total frustration with caregiving, emotional burden, and CG-rated bother with CR's activities of daily living and instrumental activities of daily living at baseline and at follow-up, although differences between baseline and posttest did not vary according to race. CONCLUSION: A structured, multicomponent skills training intervention that targeted CG self-care behaviors as one of five target areas, improved self-reported health status, and decreased burden and bother in racially and ethnically diverse CGs of people with dementia. Author Affiliation: (*)Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama ([dagger])Center for Mental Health and Aging (s.)Institute for Social Science Research, University of Alabama, Tuscaloosa, Alabama ([double dagger])School of Social Work and Institute of Gerontology, University of Michigan, Ann Arbor, Michigan. Article note: Address correspondence to Louis D. Burgio, School of Social Work, Institute of Gerontology, University of Michigan, 1080 S. University, 2772 SSWB, Ann Arbor, MI 48109-1106. E-mail: lburgio@umich.edu

Published
2010
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7. Effects of an analgesic trial in reducing pain behaviors in community-dwelling older adults with dementia

Author

Elliott, Amanda Floetke and Horgas, Ann L.

Subjects
Analgesics -- Dosage and administration, Analgesics -- Demographic aspects, Analgesics -- Research, Dementia -- Care and treatment, Dementia -- Demographic aspects, Dementia -- Research, Nursing home patients -- Research, Pain -- Care and treatment, Pain -- Demographic aspects, Pain -- Research, Business, Business, international, General interest, News, opinion and commentary
Published
2009

8. The Nursing Home Minimum Data Set for Vision and Its Association with Visual Acuity and Contrast Sensitivity

Author

Swanson, Mark W., McGwin, Gerald, Jr., Elliott, Amanda F., and Owsley, Cynthia

Subjects
Medical colleges, Nursing home patients, Diabetic retinopathy, Nursing homes, Health, Seniors
Abstract

To authenticate to the full-text of this article, please visit this link: http://dx.doi.org/10.1111/j.1532-5415.2008.02144.x Byline: Mark W. Swanson (*), Gerald McGwin, Jr. ([dagger][double dagger]), Amanda F. Elliott ([dagger]), Cynthia Owsley ([dagger]) Keywords: MDS; vision; nursing home Abstract: OBJECTIVES: To evaluate the association between the Minimum Data Set's (MDS) Vision Patterns section and near and distance visual acuity and contrast sensitivity in nursing home residents. DESIGN: Cross-sectional study. SETTING: Seventeen nursing homes in the Birmingham, Alabama, area. PARTICIPANTS: Three hundred seventy-one nursing home residents aged 55 and older with Mini-Mental State Examination scores of 13 or greater. MEASUREMENTS: The MDS 2.0 assessment for vision from the date closest to acuity and contrast sensitivity assessment were obtained from the resident's medical record. Acuity and contrast sensitivity were measured using the ETDRS chart and Pelli-Robson chart, respectively. RESULTS: The MDS rating of visual status was associated with distance and near visual acuity and contrast sensitivity. The MDS performed poorly in distinguishing residents with mild visual impairment from those with moderate visual impairment. For residents who were rated on the MDS as having adequate vision, 45.9% had distance acuity worse than 20/40 in the better eye, 72.8% had near acuity worse than 20/40 in the better eye, and 85.8% had contrast sensitivity less than 1.50. CONCLUSION: The MDS 2.0 assessment for vision in nursing home residents is positively associated with visual acuity and contrast sensitivity but does not adequately distinguish between individuals with mild and moderate visual impairment and classifies many as having adequate vision who have visual impairment. The validity of the MDS 2.0 as a mechanism for triggering comprehensive eye care for nursing home residents is questionable. Author Affiliation: (*)Department of Optometry, School of Optometry ([dagger])Department of Ophthalmology, School of Medicine; and ([double dagger])Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama. Article note: Address correspondence to Mark W. Swanson, Department of Optometry, 1716 University Blvd, Birmingham, AL 35294. E-mail: mswanson@uab.edu

Published
2009

9. Vision-Enhancing Interventions in Nursing Home Residents and Their Short-Term Effect on Physical and Cognitive Function

Author

Elliott, Amanda F., McGwin, Gerald, and Owsley, Cynthia

Subjects
Medical colleges, Nursing home patients, Aged, Ophthalmology, Medical errors, Nursing homes, Health, Seniors
Abstract

To purchase or authenticate to the full-text of this article, please visit this link: http://dx.doi.org/10.1111/j.1532-5415.2008.02099.x Byline: Amanda F. Elliott (*), Gerald McGwin (*[dagger][double dagger]), Cynthia Owsley (*) Keywords: vision intervention; physical functioning; cognitive impairment; nursing homes Abstract: OBJECTIVES: To evaluate the effect of vision-enhancing interventions (cataract surgery or refractive error correction) on physical function and cognitive status in nursing home residents. DESIGN: Longitudinal cohort study. SETTING: Seventeen nursing homes in Birmingham, Alabama. PARTICIPANTS: A total of 187 English-speaking adults aged 55 and older. INTERVENTION: Participants took part in one of two vision-enhancing interventions: cataract surgery or refractive error correction. Each group was compared against a control group (persons eligible for but who declined cataract surgery or who received delayed correction of refractive error). MEASUREMENTS: Physical function (ability to perform activities of daily living and mobility) was assessed using a series of self-report and certified nursing assistant ratings at baseline and at 2 months for the refractive error correction group and at 4 months for the cataract surgery group. The Mini Mental State Examination was also administered. RESULTS: No significant differences existed within or between groups from baseline to follow-up on any of the measures of physical function. Mental status scores significantly declined from baseline to follow-up for the immediate (P=.05) and delayed (P CONCLUSION: Vision-enhancing interventions did not lead to short-term improvements in physical functioning or cognitive status in this sample of elderly nursing home residents. Author Affiliation: (*)Departments of Ophthalmology ([dagger])Epidemiology, and ([double dagger])Surgery, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama. Article note: Address correspondence to Amanda F. Elliott, Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, 700 S. 18th Street, Suite 609, Birmingham, AL 35294. E-mail: elliotta@uab.edu

Published
2009

10. Pain Assessment in Persons with Dementia: Relationship Between Self-Report and Behavioral Observation

Author

Horgas, Ann L., Elliott, Amanda F., and Marsiske, Michael

Subjects
Pain -- Care and treatment, Analgesics, Medical colleges, Aged, Dwellings, Housing, Nursing home patients, Dementia, Health, Seniors
Abstract

To purchase or authenticate to the full-text of this article, please visit this link: http://dx.doi.org/10.1111/j.1532-5415.2008.02071.x Byline: Ann L. Horgas (*), Amanda F. Elliott ([dagger]), Michael Marsiske ([double dagger]) Keywords: pain; dementia; measurement Abstract: OBJECTIVES: To investigate the relationship between self-report and behavioral indicators of pain in cognitively impaired and intact older adults. DESIGN: Quasi-experimental, correlational study of older adults. SETTING: Data were collected from residents of nursing homes, assisted living, and retirement apartments in north-central Florida. PARTICIPANTS: One hundred twenty-six adults, mean age 83; 64 cognitively intact, 62 cognitively impaired. MEASUREMENTS: Pain interviews (pain presence, intensity, locations, duration), pain behavior measure, Mini-Mental State Examination, analgesic medications, and demographic characteristics. Participants completed an activity-based protocol to induce pain. RESULTS: Eighty-six percent self-reported regular pain. Controlling for analgesics, cognitively impaired participants reported less pain than cognitively intact participants after movement but not at rest. Behavioral pain indicators did not differ between cognitively intact and impaired participants. Total number of pain behaviors was significantly related to self-reported pain intensity ([beta]=0.40, P=.000) in cognitively intact elderly people. CONCLUSION: Cognitively impaired elderly people self-report less pain than cognitively intact elderly people, independent of analgesics, but only when assessed after movement. Behavioral pain indicators do not differ between the groups. The relationship between self-report and pain behaviors supports the validity of behavioral assessments in this population. These findings support the use of multidimensional pain assessment in persons with dementia. Author Affiliation: (*)Department of Adult and Elderly Nursing, University of Florida, College of Nursing, Gainesville, Florida ([dagger])Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama ([double dagger])Department of Clinical and Health Psychology, College of Public Health and Health Professions, University of Florida, Gainesville, Florida. Article note: Address correspondence to Ann Horgas, College of Nursing, University of Florida, PO Box 100197-HSC, 101 S. Newell Drive, Room 2201, Gainesville, FL 32610. E-mail: ahorgas@ufl.edu

Published
2009

11. High-Resolution Genotyping of Formalin-Fixed Tissue Accurately Estimates Polygenic Risk Scores in Human Diseases

Author

Youssef, Omar, Loukola, Anu, Zidi-Mouaffak, Yossra H.S., Tamlander, Max, Ruotsalainen, Sanni, Kilpeläinen, Elina, Mars, Nina, Ripatti, Samuli, Palotie, Aarno, Daly, Mark, Riley-Gills, Bridget, Jacob, Howard, Paul, Dirk, Petrovski, Slavé, Runz, Heiko, John, Sally, Okafo, George, Lawless, Nathan, Salminen-Mankonen, Heli, Plenge, Robert, Maranville, Joseph, McCarthy, Mark, Ehm, Margaret G., Auro, Kirsi, Longerich, Simonne, Mälarstig, Anders, Klinger, Katherine, Chatelain, Clement, Gossel, Matthias, Estrada, Karol, Graham, Robert, Yang, Robert, ODonnell, Chris, Mäkelä, Tomi P., Kaprio, Jaakko, Virolainen, Petri, Hakanen, Antti, Kilpi, Terhi, Perola, Markus, Partanen, Jukka, Pitkäranta, Anne, Raivio, Taneli, Tikkanen, Jani, Serpi, Raisa, Laitinen, Tarja, Kosma, Veli-Matti, Laukkanen, Jari, Hautalahti, Marco, Tuovila, Outi, Pakkanen, Raimo, Waring, Jeffrey, Riley-Gillis, Bridget, Rahimov, Fedik, Tachmazidou, Ioanna, Chen, Chia-Yen, Runz, Heiko, Ding, Zhihao, Jung, Marc, Biswas, Shameek, Pendergrass, Rion, Ehm, Margaret G., Pulford, David, Raghavan, Neha, Huertas-Vazquez, Adriana, Sul, Jae-Hoon, Mälarstig, Anders, Hu, Xinli, Hedman, Åsa, Klinger, Katherine, Graham, Robert, Rivas, Manuel, Waterworth, Dawn, Renaud, Nicole, Obeidat, Maen, Ripatti, Samuli, Schleutker, Johanna, Perola, Markus, Arvas, Mikko, Carpén, Olli, Hinttala, Reetta, Kettunen, Johannes, Mannermaa, Arto, Aalto-Setälä, Katriina, Kähönen, Mika, Laukkanen, Jari, Mäkelä, Johanna, Kälviäinen, Reetta, Julkunen, Valtteri, Soininen, Hilkka, Remes, Anne, Hiltunen, Mikko, Peltola, Jukka, Raivio, Minna, Tienari, Pentti, Rinne, Juha, Kallionpää, Roosa, Partanen, Juulia, Abbasi, Ali, Ziemann, Adam, Smaoui, Nizar, Lehtonen, Anne, Eaton, Susan, Runz, Heiko, Lahdenperä, Sanni, Biswas, Shameek, Bowers, Natalie, Teng, Edmond, Pendergrass, Rion, Xu, Fanli, Pulford, David, Auro, Kirsi, Addis, Laura, Eicher, John, Li, Qingqin S., He, Karen, Khramtsova, Ekaterina, Raghavan, Neha, Färkkilä, Martti, Koskela, Jukka, Pikkarainen, Sampsa, Jussila, Airi, Kaukinen, Katri, Blomster, Timo, Kiviniemi, Mikko, Voutilainen, Markku, Daly, Mark, Abbasi, Ali, Waring, Jeffrey, Smaoui, Nizar, Rahimov, Fedik, Lehtonen, Anne, Lu, Tim, Bowers, Natalie, Pendergrass, Rion, McCarthy, Linda, Hart, Amy, Guan, Meijian, Miller, Jason, Kalpala, Kirsi, Miller, Melissa, Hu, Xinli, Eklund, Kari, Palomäki, Antti, Isomäki, Pia, Pirilä, Laura, Kaipiainen-Seppänen, Oili, Huhtakangas, Johanna, Mars, Nina, Abbasi, Ali, Waring, Jeffrey, Rahimov, Fedik, Lertratanakul, Apinya, Smaoui, Nizar, Lehtonen, Anne, Viollet, Coralie, Hochfeld, Marla, Bowers, Natalie, Pendergrass, Rion, Gordillo, Jorge Esparza, Auro, Kirsi, Waterworth, Dawn, Farias, Fabiana, Kalpala, Kirsi, Bing, Nan, Hu, Xinli, Laitinen, Tarja, Pelkonen, Margit, Kauppi, Paula, Kankaanranta, Hannu, Harju, Terttu, Lahesmaa, Riitta, Smaoui, Nizar, Viollet, Coralie, Eaton, Susan, Chen, Hubert, Pendergrass, Rion, Bowers, Natalie, Betts, Joanna, Auro, Kirsi, Mishra, Rajashree, Mouded, Majd, Ngo, Debby, Niiranen, Teemu, Vaura, Felix, Salomaa, Veikko, Metsärinne, Kaj, Aittokallio, Jenni, Kähönen, Mika, Hernesniemi, Jussi, Gordin, Daniel, Sinisalo, Juha, Taskinen, Marja-Riitta, Tuomi, Tiinamaija, Hiltunen, Timo, Laukkanen, Jari, Elliott, Amanda, Reeve, Mary Pat, Ruotsalainen, Sanni, Paul, Dirk, Bowers, Natalie, Pendergrass, Rion, Chu, Audrey, Auro, Kirsi, Reilly, Dermot, Mendelson, Mike, Parkkinen, Jaakko, Miller, Melissa, Meretoja, Tuomo, Joensuu, Heikki, Carpén, Olli, Mattson, Johanna, Salminen, Eveliina, Auranen, Annika, Karihtala, Peeter, Auvinen, Päivi, Elenius, Klaus, Schleutker, Johanna, Pitkänen, Esa, Mars, Nina, Daly, Mark, Popovic, Relja, Waring, Jeffrey, Riley-Gillis, Bridget, Lehtonen, Anne, Fabre, Margarete, Schutzman, Jennifer, Bowers, Natalie, Pendergrass, Rion, Kulkarni, Diptee, Auro, Kirsi, Porello, Alessandro, Loboda, Andrey, Lehtonen, Heli, McDonough, Stefan, Vuoti, Sauli, Kaarniranta, Kai, Turunen, Joni A., Ollila, Terhi, Uusitalo, Hannu, Karjalainen, Juha, Pitkänen, Esa, Liu, Mengzhen, Runz, Heiko, Loomis, Stephanie, Strauss, Erich, Bowers, Natalie, Chen, Hao, Pendergrass, Rion, Tasanen, Kaisa, Huilaja, Laura, Hannula-Jouppi, Katariina, Salmi, Teea, Peltonen, Sirkku, Koulu, Leena, Smaoui, Nizar, Rahimov, Fedik, Lehtonen, Anne, Choy, David, Pendergrass, Rion, Waterworth, Dawn, Kalpala, Kirsi, Wu, Ying, Pussinen, Pirkko, Salminen, Aino, Salo, Tuula, Rice, David, Nieminen, Pekka, Palotie, Ulla, Siponen, Maria, Suominen, Liisa, Mäntylä, Päivi, Gursoy, Ulvi, Anttonen, Vuokko, Sipilä, Kirsi, Pendergrass, Rion, Laivuori, Hannele, Kurra, Venla, Kotaniemi-Talonen, Laura, Heikinheimo, Oskari, Kalliala, Ilkka, Aaltonen, Lauri, Jokimaa, Varpu, Kettunen, Johannes, Vääräsmäki, Marja, Uimari, Outi, Morin-Papunen, Laure, Niinimäki, Maarit, Piltonen, Terhi, Kivinen, Katja, Widen, Elisabeth, Tukiainen, Taru, Reeve, Mary Pat, Daly, Mark, Välimäki, Niko, Laakkonen, Eija, Tyrmi, Jaakko, Silven, Heidi, Sliz, Eeva, Arffman, Riikka, Savukoski, Susanna, Laisk, Triin, Pujol, Natalia, Liu, Mengzhen, Riley-Gillis, Bridget, Pendergrass, Rion, Kumar, Janet, Auro, Kirsi, Hovatta, Iiris, Chen, Chia-Yen, Isometsä, Erkki, Ollila, Hanna, Suvisaari, Jaana, Als, Thomas Damm, Mäkitie, Antti, Bizaki-Vallaskangas, Argyro, Toppila-Salmi, Sanna, Willberg, Tytti, Saarentaus, Elmo, Aarnisalo, Antti, Salminen, Eveliina, Rahikkala, Elisa, Kettunen, Johannes, Aittomäki, Kristiina, Åberg, Fredrik, Kurki, Mitja, Ripatti, Samuli, Daly, Mark, Karjalainen, Juha, Havulinna, Aki, Mehtonen, Juha, Palta, Priit, Hassan, Shabbeer, Della Briotta Parolo, Pietro, Zhou, Wei, Maasha, Mutaamba, Hassan, Shabbeer, Lemmelä, Susanna, Rivas, Manuel, Palotie, Aarno, Liu, Aoxing, Lehisto, Arto, Ganna, Andrea, Llorens, Vincent, Laivuori, Hannele, Tukiainen, Taru, Reeve, Mary Pat, Heyne, Henrike, Mars, Nina, Rämö, Joel, Saarentaus, Elmo, Ollila, Hanna, Rodosthenous, Rodos, Strausz, Satu, Palotie, Tuula, Palin, Kimmo, Garcia-Tabuenca, Javier, Siirtola, Harri, Kiiskinen, Tuomo, Lee, Jiwoo, Tsuo, Kristin, Elliott, Amanda, Kristiansson, Kati, Arvas, Mikko, Hyvärinen, Kati, Ritari, Jarmo, Carpén, Olli, Kettunen, Johannes, Pylkäs, Katri, Sliz, Eeva, Karjalainen, Minna, Mantere, Tuomo, Kangasniemi, Eeva, Heikkinen, Sami, Mannermaa, Arto, Laakkonen, Eija, Pitkänen, Nina, Lessard, Samuel, Chatelain, Clément, Kallio, Lila, Wahlfors, Tiina, Partanen, Jukka, Punkka, Eero, Serpi, Raisa, Siltanen, Sanna, Kosma, Veli-Matti, Kuopio, Teijo, Jalanko, Anu, Shen, Huei-Yi, Kajanne, Risto, Aavikko, Mervi, Cooper, Helen, Öller, Denise, Leinonen, Rasko, Palin, Henna, Linna, Malla-Maria, Kurki, Mitja, Karjalainen, Juha, Della Briotta Parolo, Pietro, Lehisto, Arto, Mehtonen, Juha, Zhou, Wei, Kanai, Masahiro, Maasha, Mutaamba, Zheng, Zhili, Laivuori, Hannele, Havulinna, Aki, Lemmelä, Susanna, Kiiskinen, Tuomo, Lahtela, L. Elisa, Kaunisto, Mari, Kilpeläinen, Elina, Sipilä, Timo P., Dada, Oluwaseun Alexander, Ghazal, Awaisa, Kytölä, Anastasia, Weldatsadik, Rigbe, Ruotsalainen, Sanni, Donner, Kati, Sipilä, Timo P., Loukola, Anu, Laiho, Päivi, Sistonen, Tuuli, Kaiharju, Essi, Laukkanen, Markku, Järvensivu, Elina, Lähteenmäki, Sini, Männikkö, Lotta, Wong, Regis, Toivola, Auli, Brunfeldt, Minna, Mattsson, Hannele, Kristiansson, Kati, Lemmelä, Susanna, Koskelainen, Sami, Hiekkalinna, Tero, Paajanen, Teemu, Palta, Priit, Pärn, Kalle, Kals, Mart, Luo, Shuang, Laitinen, Tarja, Reeve, Mary Pat, Padmanabhuni, Shanmukha Sampath, Niemi, Marianna, Siirtola, Harri, Gracia-Tabuenca, Javier, Helminen, Mika, Luukkaala, Tiina, Vähätalo, Iida, Tammerluoto, Jyrki, Hautalahti, Marco, Mäkelä, Johanna, Smith, Sarah, Southerington, Tom, Lehto, Petri, Palotie, Aarno, Donner, Kati, and Carpén, Olli

Abstract

Formalin-fixed paraffin-embedded (FFPE) tissues stored in biobanks and pathology archives are a vast but underutilized source for molecular studies on different diseases. Beyond being the “gold standard” for preservation of diagnostic human tissues, FFPE samples retain similar genetic information as matching blood samples, which could make FFPE samples an ideal resource for genomic analysis. However, research on this resource has been hindered by the perception that DNA extracted from FFPE samples is of poor quality. Here, we show that germline disease-predisposing variants and polygenic risk scores (PRS) can be identified from FFPE normal tissue (FFPE-NT) DNA with high accuracy. We optimized the performance of FFPE-NT DNA on a genome-wide array containing 657,675 variants. Via a series of testing and validation phases, we established a protocol for FFPE-NT genotyping with results comparable with blood genotyping. The median call rate of FFPE-NT samples in the validation phase was 99.85% (range 98.26%-99.94%) and median concordance with matching blood samples was 99.79% (range 98.85%-99.9%). We also demonstrated that a rare pathogenic PALB2variant predisposing to cancer can be correctly identified in FFPE-NT samples. We further imputed the FFPE-NT genotype data and calculated the FFPE-NT genome-wide PRS in 3 diseases and 4 disease risk variables. In all cases, FFPE-NT and matching blood PRS were highly concordant (all Pearson’s r> 0.95). The ability to precisely genotype FFPE-NT on a genome-wide array enables translational genomics applications of archived FFPE-NT samples with the possibility to link to corresponding phenotypes and longitudinal health data.

Published
2024
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12. Meet the new John and Jane Doe's

Author

Elliott, Amanda

Subjects
Banks (Finance) -- Evaluation, Banking industry -- Marketing, Marketing, Post-baby boom generation -- Evaluation, Company marketing practices, Banking industry, Banking, finance and accounting industries, Business
Abstract

Who Is Generation X? While Definitions and Images May Vary, the Individuals Who Make Up This Less-Than-Distinct Generation Will Be Your Primary Customers In the Future. Better To Gather Market [...]

Published
1996

13. Women in banking

Author

Elliott, Amanda

Subjects
Women executives -- Vocational guidance, Banking industry -- Social aspects, Working women -- Evaluation, Employment discrimination -- Analysis, Banking, finance and accounting industries, Business
Abstract

Women bankers are a new breed. Women who were able to make successful careers achieved these through accomplishments, hard work and perseverance. However, majority of the senior and board positions are still held by men. Women need to break the glass ceiling to be able to advance in the corporate world. Women should take line functions. Skills, qualifications, hard work and building on trusting, business relationships will help women reach the top levels of management., The Glass Ceiling Phenomenon Is Facing a New Dimension of Women Bankers Who Are, Despite the Odds, Climbing the Ladder of Success Betty Kimbrew was once one of 14 district [...]

Published
1995

15. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Author

Flannick, Jason, Mercader, Josep M., Fuchsberger, Christian, Udler, Miriam S., Mahajan, Anubha, Wessel, Jennifer, Teslovich, Tanya M., Caulkins, Lizz, Koesterer, Ryan, Barajas-Olmos, Francisco, Blackwell, Thomas W., Boerwinkle, Eric, Brody, Jennifer A., Centeno-Cruz, Federico, Chen, Ling, Chen, Siying, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, Cortes, Maria, DeFronzo, Ralph A., Dolan, Lawrence, Drews, Kimberly L., Elliott, Amanda, Floyd, James S., Gabriel, Stacey, Garay-Sevilla, Maria Eugenia, García-Ortiz, Humberto, Gross, Myron, Han, Sohee, Heard-Costa, Nancy L., Jackson, Anne U., Jørgensen, Marit E., Kang, Hyun Min, Kelsey, Megan, Kim, Bong-Jo, Koistinen, Heikki A., Kuusisto, Johanna, Leader, Joseph B., Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Lyssenko, Valeriya, Manning, Alisa K., Marcketta, Anthony, Malacara-Hernandez, Juan Manuel, Martínez-Hernández, Angélica, Matsuo, Karen, Mayer-Davis, Elizabeth, Mendoza-Caamal, Elvia, Mohlke, Karen L., Morrison, Alanna C., Ndungu, Anne, Ng, Maggie C. Y., O’Dushlaine, Colm, Payne, Anthony J., Pihoker, Catherine, Post, Wendy S., Preuss, Michael, Psaty, Bruce M., Vasan, Ramachandran S., Rayner, N. William, Reiner, Alexander P., Revilla-Monsalve, Cristina, Robertson, Neil R., Santoro, Nicola, Schurmann, Claudia, So, Wing Yee, Soberón, Xavier, Stringham, Heather M., Strom, Tim M., Tam, Claudia H. T., Thameem, Farook, Tomlinson, Brian, Torres, Jason M., Tracy, Russell P., van Dam, Rob M., Vujkovic, Marijana, Wang, Shuai, Welch, Ryan P., Witte, Daniel R., Wong, Tien-Yin, Atzmon, Gil, Barzilai, Nir, Blangero, John, Bonnycastle, Lori L., Bowden, Donald W., Chambers, John C., Chan, Edmund, Cheng, Ching-Yu, Cho, Yoon Shin, Collins, Francis S., de Vries, Paul S., Duggirala, Ravindranath, Glaser, Benjamin, Gonzalez, Clicerio, Gonzalez, Ma Elena, Groop, Leif, Kooner, Jaspal Singh, Kwak, Soo Heon, Laakso, Markku, Lehman, Donna M., Nilsson, Peter, Spector, Timothy D., Tai, E. Shyong, Tuomi, Tiinamaija, Tuomilehto, Jaakko, Wilson, James G., Aguilar-Salinas, Carlos A., Bottinger, Erwin, Burke, Brian, Carey, David J., Chan, Juliana C. N., Dupuis, Josée, Frossard, Philippe, Heckbert, Susan R., Hwang, Mi Yeong, Kim, Young Jin, Kirchner, H. Lester, Lee, Jong-Young, Lee, Juyoung, Loos, Ruth J. F., Ma, Ronald C. W., Morris, Andrew D., O’Donnell, Christopher J., Palmer, Colin N. A., Pankow, James, Park, Kyong Soo, Rasheed, Asif, Saleheen, Danish, Sim, Xueling, Small, Kerrin S., Teo, Yik Ying, Haiman, Christopher, Hanis, Craig L., Henderson, Brian E., Orozco, Lorena, Tusié-Luna, Teresa, Dewey, Frederick E., Baras, Aris, Gieger, Christian, Meitinger, Thomas, Strauch, Konstantin, Lange, Leslie, Grarup, Niels, Hansen, Torben, Pedersen, Oluf, Zeitler, Philip, Dabelea, Dana, Abecasis, Goncalo, Bell, Graeme I., Cox, Nancy J., Seielstad, Mark, Sladek, Rob, Meigs, James B., Rich, Steve S., Rotter, Jerome I., Altshuler, David, Burtt, Noël P., Scott, Laura J., Morris, Andrew P., Florez, Jose C., McCarthy, Mark I., and Boehnke, Michael

Abstract

Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.5%) in 4 genes at exome-wide significance, including a series of more than 30 SLC30A8alleles that conveys protection against T2D, and in 12 gene sets, including those corresponding to T2D drug targets (P= 6.1 × 10−3) and candidate genes from knockout mice (P= 5.2 × 10−3). Within our study, the strongest T2D gene-level signals for rare variants explain at most 25% of the heritability of the strongest common single-variant signals, and the gene-level effect sizes of the rare variants that we observed in established T2D drug targets will require 75,000–185,000 sequenced cases to achieve exome-wide significance. We propose a method to interpret these modest rare-variant associations and to incorporate these associations into future target or gene prioritization efforts.

Published
2019
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17. Women Veterans, a Population at Risk for Fibromyalgia: The Associations Between Fibromyalgia, Symptoms, and Quality of Life.

Author

D'Aoust, Rita F, Rossiter, Alicia Gill, Elliott, Amanda, Ji, Ming, Lengacher, Cecile, and Groer, Maureen

Abstract

The Institute of Federal Health Care recently published an executive summary from a round table discussion indicating that active duty and retired female military personnel are at high risk for adverse health outcomes unique to military service including complications related to post-traumatic stress disorder (PTSD), unreported sexual trauma, and musculoskeletal problems. In 2008, the Institute of Medicine began to review, evaluate, and summarize the literature on health outcomes in Gulf War-deployed and found sufficient evidence of a causal relationship with PTSD and suggestive evidence of an association with fibromyalgia (FM). This study examines the prevalence and impact of FM in women veterans and to explore the association between other comorbidities to improve risk differentiation for treatment and improve outcomes.

Published
2017
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18. Generation X and financial planning

Author

Elliott, Amanda

Subjects
Financial planning -- Surveys, Retirement planning -- Surveys, Post-baby boom generation -- Surveys, Banking, finance and accounting industries, Business
Abstract

A survey of 2000 individuals between the ages of 15 and 35, collectively known as Generation X, shows that majority of them are thinking about retirement and the financial planning that goes with it. This finding shows that members of this generation are a little hard up but generally optimistic about the future. Such survey results should be seriously considered by financial institutions as an opportunity to market financial counseling services to these individuals., The following statistics are quite compelling: 77 percent of twenty-somethings say that they want to save for retirement, and 55 percent are prepared to reduce their personal spending now to [...]

Published
1996

19. Serving a new market in corporate America

Author

Elliott, Amanda

Subjects
Businesswomen -- Appreciation, Women-owned business enterprises -- Finance, Banking, finance and accounting industries, Business
Abstract

Businesses owned by women are an emerging market in the US economy. Business financing is one of the major blocks businesswomen face. Financial institutions are just starting to acknowledge the importance of businesses owned by women. The fact that women have not yet been that long in the business arena makes business financing an obstacle., Women-owned businesses are not only one of the most rapidly expanding sectors of the U.S. economy, but they are also a financially stable sector, according to the National Foundation for [...]

Published
1995

21. The Utility of Clinical Measures for the Diagnosis of Achilles Tendon Injuries: A Systematic Review With Meta-Analysis

Author

Reiman, Michael, Burgi, Ciara, Strube, Eileen, Prue, Kevin, Ray, Keaton, Elliott, Amanda, and Goode, Adam

Abstract

Objective:To summarize and evaluate the current diagnostic accuracy of clinical measures used to diagnose Achilles tendon injuries.Data Sources:A literature search of MEDLINE, CINAHL, and EMBASE databases was conducted with key words related to diagnostic accuracy and Achilles tendon injuries.Study Selection:Original research articles investigating Achilles tendon injuries against an acceptable reference standard were included.Data Extraction:Three studies met the inclusion criteria. Quality assessment was conducted using the Quality Assessment of Diagnostic Accuracy Studies-2 tool. DerSimonian-Laird random-effects models were used to pool sensitivity (SN), specificity (SP), and diagnostic odds ratios with their 95 confidence intervals (CIs).Data Synthesis:The SN and negative likelihood ratio (−LR) values for Achilles tendon rupture measures ranged from 0.73 (95 CI 0.65, 0.81) and 0.30 (95 CI 0.23, 0.40) to 0.96 (95 CI 0.93, 0.99) and 0.04 (95 CI 0.02, 0.10), respectively, whereas SP and positive likelihood ratio (LR) values ranged from 0.85 (95 CI 0.72, 0.98) and 6.29 (95 CI 2.33, 19.96) to 0.93 (95 CI 0.84, 1.00) and 13.71 (95 CI 3.54, 51.24), respectively, with the highest SN and SP both reported in the calf-squeeze test. The SN and −LR values for Achilles tendinopathy measures ranged from 0.03 (95 CI 0.00, 0.08) and 0.97 (95 CI not reported) to 0.89 (95 CI 0.75, 0.98) and 0.19 (95 CI not reported), whereas SP and LR values ranged from 0.58 (95 CI 0.38, 0.77) and 2.12 (95 CI not reported) to 1.00 (95 CI 1.00, 1.00) and infinity, respectively, with the highest SN and SP reported for morning stiffness and palpation for crepitus. Pooled analyses demonstrated similar diagnostic properties in all 3 clinical measures (arc sign, palpation, and Royal London Hospital test), with SN and −LR ranging from 0.42 (95 CI 0.23, 0.62) and 0.68 (95 CI 0.50, 0.93), respectively, for the arc sign, to 0.64 (95 CI 0.44, 0.81) and 0.48 (95 CI 0.29, 0.80), respectively, for palpation. Pooled SP and LR ranged from 0.81 (95 CI 0.65, 0.91) and 3.15 (95 CI 1.61, 6.18), respectively, for palpation, to 0.88 (95 CI 0.74, 0.96) SP for the arc sign and 3.84 (95 CI 1.69, 8.73) LR for the Royal London Hospital test.Conclusions:Most clinical measures for Achilles tendon injury have greater diagnostic than screening capability.

Published
2014
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22. Government faces pressure to tackle obesity

Author

Elliott, Amanda

Subjects
Obesity in children -- Political aspects, Obesity in children -- Prevention, Health promotion -- Political aspects, United Kingdom -- Social policy
Abstract

Ministers are under pressure from leading scientists and nutrition experts to take urgent action on childhood obesity. Reports from the Food Standards Agency and the Medical Research Council this week […]

Published
2003

23. Sports expert defends 'chocolate for equipment' scheme

Author

Elliott, Amanda

Subjects
Health promotion -- Evaluation, Obesity in children -- Prevention, Public health -- Reports
Abstract

A controversial, government endorsed campaign to tackle obesity by encouraging children to exchange chocolate bar wrappers for sports equipment is "showing positive results," a former government adviser has claimed. Dr […]

Published
2003

26. Vietnamese and Arabic Women's Responses to the Diagnostic Interview Schedule (Depression) and Self-Report Questionnaires: Cause for Concern

Author

Matthey, Stephen, Barnett, Bryanne E. W., and Elliott, Amanda

Abstract

Objective: The original study aimed to determine the best cut-off scores to screen for postnatal depression on translated versions of the Edinburgh Postnatal Depression Scale (EPDS) for Vietnamese and Arabic women. This research was conducted using the depression module of the Diagnostic Interview Schedule (DIS) to determine caseness. This paper reports on the suitability of this diagnostic interview as a criterion measure of depression in these women with a non-English speaking background.Method: Vietnamese and Arabic women in south-west Sydney completed the EPDS and a General Health Questionnaire (GHQ-30) antenatally. At 6–8 weeks postpartum they completed an EPDS, the GHQ-30 and a Faces Scale, and were interviewed using the depression module of the DIS. Members of a small convenience sample of women were asked about the cultural appropriateness of each of the instruments.Results: Vietnamese women admitted to few depressive symptoms on the DIS, whereas they appeared more open to reporting these on the EPDS and the GHQ-30. Arabic women responded more openly to the questionnaires and the interview, although they too were reluctant to report specific symptoms on the DIS.Conclusion: The usefulness of the DIS in determining rates of major depression in the Vietnamese and Arabic community in Australia is questionable. Further studies designed specifically to investigate this are needed.

Published
1997
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27. The Negotiator.

Author

ELLIOTT, AMANDA C.

Subjects
*GOVERNMENT shutdown, *EMIGRATION & immigration, PATIENT Protection & Affordable Care Act
Abstract

The article discusses the author's conversation with immigration lawyer-turned-Representative for Idaho Raul Labrador. Topics covered include the government shutdown in 2014 which was intended to delay the implementation of the Patient Protection and Affordable Care Act, John Boehner's achievements as Speaker of the U.S. House of Representatives, and child immigration.

Published
2014

28. The Prosecutor.

Author

ELLIOTT, AMANDA C.

Subjects
*UNITED States legislators, *AMERICAN politicians
Abstract

The article profiles Trey Gowdy, a congressman of the third district of South Carolina and a member of the Republican Party. Topics discussed include his memories serial killer Patrick Tracy Burris who murdered five people in six days in July 2009, serving in four separate committees in Congress, born and raised in Greenville, South Carolina, graduated from Baylor University with a degree in history and studied law at the University of South Carolina.

Published
2014

29. Apathetic fallacy.

Author

Elliott A

Subjects
Foundations, London, State Medicine organization & administration, Community Participation, Hospitals, Public organization & administration, Privatization
Published
2003

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