☆ 4.4 Article

Haplotype analysis of the folate-related genes MTHFR, MTRR, and MTR and migraine with aura

CEPHALALGIA (2013)

期刊

CEPHALALGIA

卷 33, 期 7, 页码 469-482

出版社

SAGE PUBLICATIONS LTD

DOI: 10.1177/0333102413477738

关键词

Migraine; folate; haplotype; genetics

类别

Clinical Neurology Neurosciences

资金

National Institutes of Health [N01-AG-1-2100]
National Institute on Aging Intramural Research Program
Hjartavernd (the Icelandic Heart Association)
Althingi (the Icelandic Parliament)

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摘要

Aims: The C677T variant in the methylenetetrahydrofolate reductase (MTHFR; EC 1.5.1.20) enzyme, a key player in the folate metabolic pathway, has been associated with increased risk of migraine with aura. Other genes encoding molecular components of this pathway include methionine synthase (MTR; EC 2.1.1.13) and methionine synthase reductase (MTRR; EC 2.1.1.135) among others. We performed a haplotype analysis of migraine risk and MTHFR, MTR, and MTRR. Methods: Study participants are from a random sub-sample participating in the population-based AGES-Reykjavik Study, including subjects with non-migraine headache (n = 367), migraine without aura (n = 85), migraine with aura (n = 167), and no headache (n = 1347). Haplotypes spanning each gene were constructed using Haploview. Association testing was performed on single SNP and haplotypes using logistic regression, controlling for demographic and cardiovascular risk factors and correcting for multiple testing. Results: Haplotype analysis suggested an association between MTRR haplotypes and reduced risk of migraine with aura. All other associations were not significant after correcting for multiple testing. Conclusions: These results suggest that MTRR variants may protect against migraine with aura in an older population.

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Graham Barr, Emily Barron-Casella, Lucas Barwick, Terri Beaty, Gerald Beck, Diane Becker, Lewis Becker, Rebecca Beer, Amber Beitelshees, Emelia Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua Bis, Thomas Blackwell, John Blangero, Nathan Blue, Donald W. Bowden, Russell Bowler, Jennifer Brody, Ulrich Broeckel, Jai Broome, Deborah Brown, Karen Bunting, Esteban Burchard, Carlos Bustamante, Erin Buth, Brian Cade, Jonathan Cardwell, Vincent Carey, Julie Carrier, April P. Carson, Cara Carty, Richard Casaburi, Juan P. Casas Romero, James Casella, Peter Castaldi, Mark Chaffin, Christy Chang, Yi-Cheng Chang, Daniel Chasman, Sameer Chavan, Bo-Juen Chen, Wei-Min Chen, Yii-Der Ida Chen, Michael Cho, Seung Hoan Choi, Lee-Ming Chuang, Mina Chung, Ren-Hua Chung, Clary Clish, Suzy Comhair, Matthew Conomos, Elaine Cornell, Adolfo Correa, Carolyn Crandall, James Crapo, L. Adrienne Cupples, Joanne Curran, Jeffrey Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sean David, Colleen Davis, Michelle Daya, Mariza de Andrade, Lisa de las Fuentes, Paul de Vries, Michael DeBaun, Ranjan Deka, Dawn DeMeo, Scott Devine, Huyen Dinh, Harsha Doddapaneni, Qing Duan, Shannon Dugan-Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles Eaton, Lynette Ekunwe, Adel El Boueiz, Patrick Ellinor, Leslie Emery, Serpil Erzurum, Charles Farber, Jesse Farek, Tasha Fingerlin, Matthew Flickinger, Myriam Fornage, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Bruce Gelb, Mark Geraci, Soren Germer, Robert Gerszten, Auyon Ghosh, Richard Gibbs, Chris Gignoux, Mark Gladwin, David Glahn, Stephanie Gogarten, Da-Wei Gong, Harald Goring, Sharon Graw, Kathryn J. Gray, Daniel Grine, Colin Gross, C. Charles Gu, Yue Guan, Xiuqing Guo, Namrata Gupta, Jeff Haessler, Michael Hall, Yi Han, Patrick Hanly, Daniel Harris, Nicola L. Hawley, Jiang He, Ben Heavner, Susan Heckbert, Ryan Hernandez, David Herrington, Craig Hersh, Bertha Hidalgo, James Hixson, Brian Hobbs, John Hokanson, Elliott Hong, Karin Hoth, Chao (Agnes) Hsiung, Jianhong Hu, Yi-Jen Hung, Haley Huston, Chii Min Hwu, Marguerite Ryan Irvin, Rebecca Jackson, Deepti Jain, Cashell Jaquish, Jill Johnsen, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Robert Kaplan, Sharon Kardia, Shannon Kelly, Eimear Kenny, Michael Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Greg Kinney, Barbara Konkle, Charles Kooperberg, Holly Kramer, Christoph Lange, Ethan Lange, Leslie Lange, Cathy Laurie, Cecelia Laurie, Meryl LeBoff, Jiwon Lee, Sandra Lee, Wen-Jane Lee, Jonathon LeFaive, David Levine, Joshua Lewis, Xiaohui Li, Yun Li, Henry Lin, Honghuang Lin, Xihong Lin, Simin Liu, Yongmei Liu, Yu Liu, Ruth J. F. Loos, Steven Lubitz, Kathryn Lunetta, James Luo, Ulysses Magalang, Michael Mahaney, Barry Make, Ani Manichaikul, Alisa Manning, JoAnn Manson, Lisa Martin, Melissa Marton, Susan Mathai, Rasika Mathias, Susanne May, Patrick McArdle, Merry-Lynn McDonald, Sean McFarland, Stephen McGarvey, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James Meigs, Vipin Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Nancy Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, Zeineen Momin, May E. Montasser, Courtney Montgomery, Donna Muzny, Josyf C. Mychaleckyj, Girish Nadkarni, Rakhi Naik, Take Naseri, Sergei Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah Nickerson, Osuji Nkechinyere, Kari North, Jeff O'Connell, Tim O'Connor, Heather Ochs-Balcom, Geoffrey Okwuonu, Allan Pack, David T. Paik, Nicholette Palmer, James Pankow, George Papanicolaou, Cora Parker, Gina Peloso, Juan Manuel Peralta, Marco Perez, James Perry, Ulrike Peters, Patricia Peyser, Lawrence S. Phillips, Jacob Pleiness, Toni Pollin, Wendy Post, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuss, Bruce Psaty, Pankaj Qasba, Dandi Qiao, Zhaohui Qin, Nicholas Rafaels, Laura Raffield, Mahitha Rajendran, D. C. Rao, Laura Rasmussen-Torvik, Aakrosh Ratan, Susan Redline, Robert Reed, Catherine Reeves, Elizabeth Regan, Alex Reiner, Muagututi'a Sefuiva Reupena, Ken Rice, Stephen Rich, Rebecca Robillard, Nicolas Robine, Dan Roden, Carolina Roselli, Jerome Rotter, Ingo Ruczinski, Alexi Runnels, Pamela Russell, Sarah Ruuska, Kathleen Ryan, Ester Cerdeira Sabino, Danish Saleheen, Shabnam Salimi, Sejal Salvi, Steven Salzberg, Kevin Sandow, Vijay G. Sankaran, Jireh Santibanez, Karen Schwander, David Schwartz, Frank Sciurba, Christine Seidman, Jonathan Seidman, Frederic Series, Vivien Sheehan, Stephanie L. Sherman, Amol Shetty, Aniket Shetty, Wayne Hui-Heng Sheu, M. Benjamin Shoemaker, Brian Silver, Edwin Silverman, Robert Skomro, Albert Vernon Smith, Jennifer Smith, Josh Smith, Nicholas Smith, Tanja Smith, Sylvia Smoller, Beverly Snively, Michael Snyder, Tamar Sofer, Nona Sotoodehnia, Adrienne M. Stilp, Garrett Storm, Elizabeth Streeten, Jessica Lasky Su, Yun Ju Sung, Jody Sylvia, Adam Szpiro, Daniel Taliun, Hua Tang, Margaret Taub, Kent D. Taylor, Matthew Taylor, Simeon Taylor, Marilyn Telen, Timothy A. Thornton, Machiko Threlkeld, Lesley Tinker, David Tirschwell, Sarah Tishkoff, Hemant Tiwari, Catherine Tong, Russell Tracy, Michael Tsai, Dhananjay Vaidya, David van den Berg, Peter VandeHaar, Scott Vrieze, Tarik Walker, Robert Wallace, Avram Walts, Fei Fei Wang, Heming Wang, Jiongming Wang, Karol Watson, Jennifer Watt, Daniel E. Weeks, Bruce Weir, Scott T. Weiss, Lu-Chen Weng, Jennifer Wessel, Cristen Willer, Kayleen Williams, L. Keoki Williams, Scott Williams, Carla Wilson, James Wilson, Lara Winterkorn, Quenna Wong, Joseph Wu, Huichun Xu, Lisa Yanek, Ivana Yang, Ketian Yu, Yingze Zhang, Snow Xueyan Zhao, Wei Zhao, Xiaofeng Zhu, Elad Ziv, Michael Zody, Sebastian Zoellner

Summary: The study found that clonal hematopoiesis of indeterminate potential (CHIP) is associated with an increased risk of liver inflammation and chronic liver disease progression. Furthermore, experiments showed that mice transplanted with Tet2-deficient hematopoietic cells exhibited more severe liver inflammation and fibrosis. These findings suggest that CHIP contributes to liver inflammation and the development of chronic liver disease through an aberrant inflammatory response.

NATURE (2023)

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Article Genetics & Heredity

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Nick Shrine, Abril G. Izquierdo, Jing Chen, Richard Packer, Robert J. Hall, Anna L. Guyatt, Chiara Batini, Rebecca J. Thompson, Chandan Pavuluri, Vidhi Malik, Brian D. Hobbs, Matthew Moll, Wonji Kim, Ruth Tal-Singer, Per Bakke, Katherine A. Fawcett, Catherine John, Kayesha Coley, Noemi Nicole Piga, Alfred Pozarickij, Kuang Lin, Iona Y. Millwood, Zhengming Chen, Liming Li, Sara R. A. Wijnant, Lies Lahousse, Guy Brusselle, Andre G. Uitterlinden, Ani Manichaikul, Elizabeth C. Oelsner, Stephen S. Rich, R. Graham Barr, Shona M. Kerr, Veronique Vitart, Michael R. Brown, Matthias Wielscher, Medea Imboden, Ayoung Jeong, Traci M. Bartz, Sina A. Gharib, Claudia Flexeder, Stefan Karrasch, Christian Gieger, Annette Peters, Beate Stubbe, Xiaowei Hu, Victor E. Ortega, Deborah A. Meyers, Eugene R. Bleecker, Stacey B. Gabriel, Namrata Gupta, Albert Vernon Smith, Jian'an Luan, Jing-Hua Zhao, Ailin F. Hansen, Arnulf Langhammer, Cristen Willer, Laxmi Bhatta, David Porteous, Blair H. Smith, Archie Campbell, Tamar Sofer, Jiwon Lee, Martha L. Daviglus, Bing Yu, Elise Lim, Hanfei Xu, George T. O'Connor, Gaurav Thareja, Omar M. E. Albagha, Said I. Ismail, Wadha Al-Muftah, Radja Badji, Hamdi Mbarek, Dima Darwish, Tasnim Fadl, Heba Yasin, Maryem Ennaifar, Rania Abdellatif, Fatima Alkuwari, Muhammad Alvi, Yasser Al-Sarraj, Chadi Saad, Asmaa Althani, Eleni Fethnou, Fatima Qafoud, Eiman Alkhayat, Nahla Afifi, Sara Tomei, Wei Liu, Stephan Lorenz, Najeeb Syed, Hakeem Almabrazi, Fazulur Rehaman Vempalli, Ramzi Temanni, Tariq Abu Saqri, Mohammedhusen Khatib, Mehshad Hamza, Tariq Abu Zaid, Ahmed El Khouly, Tushar Pathare, Shafeeq Poolat, Rashid Al-Ali, Souhaila Al-Khodor, Mashael Alshafai, Ramin Badii, Lotfi Chouchane, Xavier Estivill, Khalid Fakhro, Younes Mokrab, Jithesh Puthen, Zohreh Tatari, Karsten Suhre, Raquel Granell, Tariq O. Faquih, Pieter S. Hiemstra, Annelies M. Slats, Benjamin H. Mullin, Jennie Hui, Alan James, John Beilby, Karina Patasova, Pirro Hysi, Jukka T. Koskela, Annah B. Wyss, Jianping Jin, Sinjini Sikdar, Mikyeong Lee, Sebastian May-Wilson, Nicola Pirastu, Katherine A. Kentistou, Peter K. Joshi, Paul R. H. J. Timmers, Alexander T. Williams, Robert C. Free, Xueyang Wang, John L. Morrison, Frank D. Gilliland, Zhanghua Chen, Carol A. Wang, Rachel E. Foong, Sarah E. Harris, Adele Taylor, Paul Redmond, James P. Cook, Anubha Mahajan, Lars Lind, Teemu Palviainen, Terho Lehtimaki, Olli T. Raitakari, Jaakko Kaprio, Taina Rantanen, Kirsi H. Pietilainen, Simon R. Cox, Craig E. Pennell, Graham L. Hall, W. James Gauderman, Chris Brightling, James F. Wilson, Tuula Vasankari, Tarja Laitinen, Veikko Salomaa, Dennis O. Mook-Kanamori, Nicholas J. Timpson, Eleftheria Zeggini, Josee Dupuis, Caroline Hayward, Ben Brumpton, Claudia Langenberg, Stefan Weiss, Georg Homuth, Carsten Oliver Schmidt, Nicole Probst-Hensch, Marjo-Riitta Jarvelin, Alanna C. Morrison, Ozren Polasek, Igor Rudan, Joo-Hyeon Lee, Ian Sayers, Emma L. Rawlins, Frank Dudbridge, Edwin K. Silverman, David P. Strachan, Robin G. Walters, Andrew P. Morris, Stephanie J. London, Michael H. Cho, Louise Wain, Ian P. Hall, Martin Tobin

Summary: Through a large-scale multi-ancestry genome-wide association meta-analysis, 1020 independent association signals implicating 559 genes related to COPD were identified. These genes were enriched in 29 pathways. Variants showed heterogeneity across ancestries, age and smoking groups, and the genetic risk score was strongly associated with COPD across ancestry groups. New potential causal variants, genes, proteins and pathways were highlighted, including those targeted by existing drugs. These findings contribute to a better understanding of lung function and COPD mechanisms and have implications for functional genomics experiments and future COPD therapies.

NATURE GENETICS (2023)

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Article Clinical Neurology

Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function A Meta-analysis of Community-Based Cohorts

Yuankai Zhang, Xue Liu, Kerri L. Wiggins, Nuzulul L. Kurniansyah, Xiuqing Guo, Amanda L. Rodrigue, Wei Zhao, Lisa R. Yanek, Scott M. Ratliff, Achilleas Pitsillides, Juan Sebastian Aguirre Patino, Tamar Sofer, Dan E. Arking, Thomas R. Austin, Alexa S. Beiser, John Blangero, Eric E. Boerwinkle, Jan Bressler, Joanne E. Curran, Lifang Hou, Timothy J. Hughes, Sharon L. R. Kardia, Lenore J. Launer, Daniel Levy, Thomas H. Mosley, Ilya M. Nasrallah, Stephen S. Rich, Jerome Rotter, Sudha Seshadri, Wassim Tarraf, Kevin A. Gonzalez, Vasan Ramachandran, Kristine Yaffe, Paul A. Nyquist, Bruce M. Psaty, Charles C. DeCarli, Jennifer M. Smith, David C. Glahn, Hector M. Gonzalez, Joshua R. Bis, Myriam L. Fornage, Susan Heckbert, Annette L. Fitzpatrick, Chunyu Liu, Claudia L. Satizabal

Summary: This study found that higher mitochondrial DNA copy number (CN) in blood is associated with better cognitive function in both current and future settings, but is not causally related to cognition. This suggests that circulating mtDNA CN could serve as a biomarker of cognitive function in the community.

NEUROLOGY (2023)

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Article Genetics & Heredity

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants

Jonah Einson, Dafni Glinos, Eric Boerwinkle, Peter Castaldi, Dawood Darbar, Mariza de Andrade, Patrick Ellinor, Myriam Fornage, Stacey Gabriel, Soren Germer, Richard Gibbs, Craig P. Hersh, Jill Johnsen, Robert Kaplan, Barbara A. Konkle, Charles Kooperberg, Rami Nassir, Ruth J. F. Loos, Deborah A. Meyers, Braxton D. Mitchell, Bruce Psaty, Ramachandran S. Vasan, Stephen S. Rich, Michael Rienstra, Jerome Rotter, Aabida Saferali, Moore Benjamin Shoemaker, Edwin Silverman, Albert Vernon Smith, Pejman Mohammadi, Stephane E. Castel, Ivan Iossifov, Tuuli Lappalainen

Summary: This study suggests that common splice-regulatory variants may reduce the pathogenicity of rare exonic variants.

GENETICS (2023)

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Correction Multidisciplinary Sciences

Clonal haematopoiesis and risk of chronic liver disease (vol 616, pg 747, 2023)

Waihay J. Wong, Connor Emdin, Alexander G. Bick, Seyedeh M. Zekavat, Abhishek Niroula, James Pirruccello, Laura Dichtel, Gabriel Griffin, Md Mesbah E. Uddin, Christopher Gibson, Veronica T. Kovalcik, Amy Lin, Marie McConkey, Amelie Vromman, Rob Sellar, Peter Kim, Mridul Agrawal, Joshua Weinstock, Michelle Long, Bing Yu, Rajarshi Banerjee, Rowan Nicholls, Andrea Dennis, Matt Kelly, Po-Ru Loh, Steve McCarroll, Eric Boerwinkle, Ramachandran Vasan, Siddhartha Jaiswal, Andrew Johnson, Raymond Chung, Kathleen Corey, Daniel Levy, Christie Ballantyne, Benjamin Ebert, Pradeep Natarajan

NATURE (2023)

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Review Biochemical Research Methods

Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease

Saori Sakaue, Saisriram Gurajala, Michelle Curtis, Yang Luo, Wanson Choi, Kazuyoshi Ishigaki, Joyce B. Kang, Laurie Rumker, Aaron J. Deutsch, Sebastian Schoenherr, Lukas Forer, Jonathon LeFaive, Christian Fuchsberger, Buhm Han, Tobias L. Lenz, Paul I. W. de Bakker, Yukinori Okada, Albert V. Smith, Soumya Raychaudhuri

Summary: The HLA locus is associated with more complex diseases than any other locus in the human genome, and it explains more heritability in many diseases than all other known loci combined. In silico HLA imputation methods allow for rapid and accurate estimation of HLA alleles in genotyped individuals. This tutorial provides guidance on performing HLA imputation, association testing, and fine mapping, and aims to contribute to understanding the role of HLA in human diseases.

NATURE PROTOCOLS (2023)

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Article Multidisciplinary Sciences

Genetic insights into resting heart rate and its role in cardiovascular disease

Yordi van de Vegte, Ruben P. Eppinga, M. Yldau van der Ende, Yanick Hagemeijer, Yuvaraj V. Mahendran, Elias Y. Salfati, Albert E. Smith, Vanessa Tan, Dan V. Arking, Ioanna Ntalla, Emil A. Appel, Claudia Schurmann, Jennifer Brody, Rico Rueedi, Ozren Polasek, Gardar Sveinbjornsson, Cecile Lecoeur, Claes Ladenvall, Jing Hua Zhao, Aaron Isaacs, Lihua Wang, Jian'an Luan, Shih-Jen Hwang, Nina U. Mononen, Kirsi F. Auro, Anne Jackson, Lawrence Bielak, Linyao Zeng, Nabi Shah, Maria Nethander, Archie Campbell, Tuomo Rankinen, Sonali Pechlivanis, Lu Qi, Wei Zhao, Federica Rizzi, Toshiko Tanaka, Antonietta Robino, Massimiliano Cocca, Leslie Lange, Martina Mueller-Nurasyid, Carolina E. Roselli, Weihua Zhang, Marcus J. Kleber, Xiuqing Guo, Henry E. Lin, Francesca Pavani, Tessel Galesloot, Raymond E. Noordam, Yuri Milaneschi, Katharina Schraut, Marcel den Hoed, Frauke E. Degenhardt, Stella Trompet, Marten van den Berg, Giorgio Pistis, Yih-Chung S. Tham, Stefan L. Weiss, Xueling J. Sim, Hengtong M. Li, Peter van der Most, Ilja Nolte, Leo-Pekka R. Lyytikaeinen, M. Abdullah Said, Daniel Witte, Carlos M. Iribarren, Lenore S. Launer, Susan Ring, Paul de Vries, Peter P. Sever, Allan Linneberg, Erwin M. Bottinger, Sandosh Padmanabhan, Bruce Psaty, Nona Sotoodehnia, Ivana Kolcic, Delnaz D. Roshandel, Andrew O. Paterson, David F. Arnar, Daniel Gudbjartsson, Hilma Holm, Beverley T. Balkau, Claudia H. Silva, Christopher Newton-Cheh, Kjell Nikus, Perttu L. Salo, Karen A. Mohlke, Patricia Peyser, Heribert Schunkert, Mattias Lorentzon, Jari C. Lahti, Dabeeru C. Rao, Marilyn D. Cornelis, Jessica A. Faul, Jennifer Smith, Katarzyna Stolarz-Skrzypek, Stefania Bandinelli, Maria Pina Concas, Gianfranco Sinagra, Thomas Meitinger, Melanie F. Waldenberger, Moritz Sinner, Konstantin E. Strauch, Graciela D. Delgado, Kent Taylor, Jie Yao, Luisa Foco, Olle Melander, Jacqueline de Graaf, Renee de Mutsert, Eco J. C. de Geus, Asa K. Johansson, Peter K. Joshi, Lars Lind, Andre W. Franke, Peter V. Macfarlane, Kirill Tarasov, Nicholas B. Tan, Stephan Felix, E-Shyong Q. Tai, Debra Quek, Harold Snieder, Johan Ormel, Martin Ingelsson, Cecilia P. Lindgren, Andrew T. Morris, Olli Raitakari, Torben Hansen, Themistocles Assimes, Vilmundur J. Gudnason, Nicholas C. Timpson, Alanna B. Morrison, Patricia P. Munroe, David Strachan, Niels Grarup, Ruth J. F. R. Loos, Susan Heckbert, Peter Vollenweider, Caroline Hayward, Kari Stefansson, Philippe Froguel, Leif J. Groop, Nicholas M. Wareham, Cornelia F. van Duijn, Mary J. Feitosa, Christopher O'Donnell, Mika Kaehoenen, Markus Perola, Michael Boehnke, Sharon L. R. Kardia, Jeanette Erdmann, Colin N. A. Palmer, Claes J. Ohlsson, David G. Porteous, Johan Eriksson, Claude Bouchard, Susanne Moebus, Peter R. Kraft, David Weir, Daniele Cusi, Luigi Ferrucci, Sheila Ulivi, Giorgia Girotto, Adolfo Correa, Stefan Kaeaeb, Annette C. Peters, John S. Chambers, Jaspal Kooner, Winfried I. Maerz, Jerome A. Rotter, Andrew Hicks, J. Gustav Smith, Lambertus A. L. M. O. Kiemeney, Dennis Mook-Kanamori, Brenda W. J. H. Penninx, Ulf F. Gyllensten, James Wilson, Stephen Burgess, Johan Sundstroem, Wolfgang Lieb, J. Wouter Jukema, Mark Eijgelsheim, Edward L. M. Lakatta, Ching-Yu Cheng, Marcus Doerr, Tien-Yin Wong, Charumathi J. Sabanayagam, Albertine Oldehinkel, Harriette Riese, Terho Lehtimaeki, Niek Verweij, Pim van der Harst

Summary: This study identifies new genetic variants associated with resting heart rate (RHR) and demonstrates that higher genetically predicted RHR is associated with a decreased risk of atrial fibrillation and ischemic stroke. Genome-wide analysis reveals multiple genetic variants in cardiomyocyte-related genes and provides insights into their electrocardiogram (ECG) signature. Mendelian randomization analyses indicate that higher genetically predicted RHR increases the risk of dilated cardiomyopathy, but reduces the risk of atrial fibrillation, ischemic stroke, and cardio-embolic stroke.

NATURE COMMUNICATIONS (2023)

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Article Geriatrics & Gerontology

Associations of plasma NfL, GFAP, and t-tau with cerebral small vessel disease and incident dementia: longitudinal data of the AGES-Reykjavik Study

April C. E. van Gennip, Claudia L. Satizabal, Russell P. Tracy, Sigurdur Sigurdsson, Vilmundur Gudnason, Lenore J. Launer, Thomas T. van Sloten

Summary: In this study, the associations of NfL, GFAP, and t-tau with SVD and incident dementia were investigated. The study found that plasma NfL had the strongest correlation with SVD, and the association with WMHV partially explained its association with incident dementia. Further research is needed to explore the clinical implications of these findings.

GEROSCIENCE (2023)

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Article Geriatrics & Gerontology

Exposure factors associated with dementia among older adults in Iceland: the AGES-Reykjavik study

Vaka Valsdottir, Brynja Bjork Magnusdottir, Haukur Freyr Gylfason, Milan Chang, Thor Aspelund, Vilmundur Gudnason, Lenore J. Launer, Maria K. Jonsdottir

Summary: The study aimed to assess the association between factors related to cognitive performance and the development of dementia. Logistic regression analysis was conducted using the AGES-Reykjavik Study epidemiological data from 2002 to 2011, involving 1,491 participants aged 66 to 90. The study found that high cognitive reserve factors reduced the risk of developing dementia and that baseline cognitive performance had a stronger association with dementia than changes in cognition over a five-year period.

GEROSCIENCE (2023)

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