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991 results on '"Griffiths, Lyn R."'

9. The protocol for an observational Australian cohort study of CADASIL: The AusCADASIL study

Author

Saks, Danit G., Bajorek, Beata, Catts, Vibeke S., Bentvelzen, Adam C., Jiang, Jiyang, Wen, Wei, Mather, Karen A., Thalamuthu, Anbupalam, Huang-Lung, Jessie, Nivison-Smith, Lisa, Griffiths, Lyn R., Smith, Robert A., Sexton, Adrienne, James, Paul, Jayasena, Tharusha, Poljak, Anne, Hansra, Gurpreet K., Hosoki, Satoshi, Park, Ashley, Hillenbrand, Claudia M., van Wijngaarden, Peter, Chander, Russell J., Humphrey, Sam, Chen, Rory, Kochan, Nicole A., Helman, Tessa J., Levi, Christopher, Brodtmann, Amy, O'Sullivan, Michael J., Markus, Romesh, Butcher, Ken, Parsons, Mark, Kovacic, Jason C., and Sachdev, Perminder S.

Published
2024
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17. Identification of Polymorphisms in EAAT1 Glutamate Transporter Gene SLC1A3 Associated with Reduced Migraine Risk.

Author

Albury, Cassie L., Sutherland, Heidi G., Lam, Alexis W. Y., Tran, Ngan K., Lea, Rod A., Haupt, Larisa M., and Griffiths, Lyn R.

Subjects
GLUTAMATE transporters, GENETIC polymorphisms, MIGRAINE, EXCITATORY amino acids, SPREADING cortical depression, SINGLE nucleotide polymorphisms, SUMATRIPTAN
Abstract

Dysfunction in ion channels or processes involved in maintaining ionic homeostasis is thought to lower the threshold for cortical spreading depression (CSD), and plays a role in susceptibility to associated neurological disorders, including pathogenesis of a migraine. Rare pathogenic variants in specific ion channels have been implicated in monogenic migraine subtypes. In this study, we further examined the channelopathic nature of a migraine through the analysis of common genetic variants in three selected ion channel or transporter genes: SLC4A4, SLC1A3, and CHRNA4. Using the Agena MassARRAY platform, 28 single-nucleotide polymorphisms (SNPs) across the three candidate genes were genotyped in a case–control cohort comprised of 182 migraine cases and 179 matched controls. Initial results identified significant associations between migraine and rs3776578 (p = 0.04) and rs16903247 (p = 0.05) genotypes within the SLC1A3 gene, which encodes the EAAT1 glutamate transporter. These SNPs were subsequently genotyped in an independent cohort of 258 migraine cases and 290 controls using a high-resolution melt assay, and association testing supported the replication of initial findings—rs3776578 (p = 0.0041) and rs16903247 (p = 0.0127). The polymorphisms are in linkage disequilibrium and localise within a putative intronic enhancer region of SLC1A3. The minor alleles of both SNPs show a protective effect on migraine risk, which may be conferred via influencing the expression of SLC1A3. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Improving the strategy to identify historical military remains: a literature review and Y-STR meta-analysis.

Author

Mitchell, Melinda R, Chaseling, Janet, Jones, Lee, White, Toni, Bernie, Andrew, Haupt, Larisa M, Griffiths, Lyn R, and Wright, Kirsty M

Subjects
LITERATURE reviews, META-analysis, MICROSATELLITE repeats, WAR casualties, WORLD War I, DNA fingerprinting, SHORT tandem repeat analysis, IDENTIFICATION
Abstract

The identification of historical military remains by Unrecovered War Casualties—Army (UWC-A) currently relies on Y-chromosome Short Tandem Repeat (Y-STR) testing when maternal relatives are not available, or when a mitochondrial DNA match does not provide sufficient certainty of identification. However, common Y-STR profiles (using Yfiler™) between sets of remains or families often prevent identification. To resolve these cases, an investigation of additional Y-DNA markers is needed for their potential inclusion into the DNA identification strategy. The number of genetic transmissions between missing soldiers and their living relatives needs to be considered to avoid false exclusions between paternal relatives. Analysis of 236 World War I/II (WWI/II) era pairs of relatives identified up to seven genetic transmissions between WWII soldiers and their living relatives, and nine for WWI. Previous Y-STR meta-analyses were published approximately 10 years ago when rapidly mutating markers were relatively new. This paper reports a contemporary literature review and meta-analysis of 35 studies (which includes 23 studies not previously used in meta-analysis) and 23 commonly used Y-STR's mutation rates to inform the inclusion of additional loci to UWC-A's DNA identification strategy. Meta-analysis found mutation data for a given Y-STR locus could be pooled between studies and that the mutation rates were significantly different between some loci (at P  < 0.05). Based on this meta-analysis, we have identified two additional markers from PowerPlex® Y23 for potential inclusion in UWC-A's identification strategy. Further avenues for potential experimental exploration are discussed. Key points From 236 UWC-A pairs of relatives, we observed up to nine genetic transmissions between WWI soldiers and their living relatives, and seven for WWII. MedCalc® software for meta-analysis utilizing the Freeman–Tukey transformation was run, which analysed 35 published studies and 23 commonly used loci. Previous Y-STR mutation rate meta-analyses are now 10 years old; this paper includes 23 studies that were not included in previous meta-analyses. Through meta-analysis, we identify two markers from PowerPlex® Y23 for potential inclusion in UWC-A's historical remains identification strategy (alongside Yfiler™). We discuss potential next steps for experimental exploration of additional Y-DNA markers. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Genome wide association study of response to interval and continuous exercise training: the Predict-HIIT study

Author

Williams, Camilla J., Li, Zhixiu, Harvey, Nicholas, Lea, Rodney A., Gurd, Brendon J., Bonafiglia, Jacob T., Papadimitriou, Ioannis, Jacques, Macsue, Croci, Ilaria, Stensvold, Dorthe, Wisloff, Ulrik, Taylor, Jenna L., Gajanand, Trishan, Cox, Emily R., Ramos, Joyce S., Fassett, Robert G., Little, Jonathan P., Francois, Monique E., Hearon, Jr, Christopher M., Sarma, Satyam, Janssen, Sylvan L. J. E., Van Craenenbroeck, Emeline M., Beckers, Paul, Cornelissen, Véronique A., Howden, Erin J., Keating, Shelley E., Yan, Xu, Bishop, David J., Bye, Anja, Haupt, Larisa M., Griffiths, Lyn R., Ashton, Kevin J., Brown, Matthew A., Torquati, Luciana, Eynon, Nir, and Coombes, Jeff S.

Published
2021
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34. Exercise is associated with younger methylome and transcriptome profiles in human skeletal muscle.

Author

Voisin, Sarah, Seale, Kirsten, Jacques, Macsue, Landen, Shanie, Harvey, Nicholas R., Haupt, Larisa M., Griffiths, Lyn R., Ashton, Kevin J., Coffey, Vernon G., Thompson, Jamie‐Lee M., Doering, Thomas M., Lindholm, Malene E., Walsh, Colum, Davison, Gareth, Irwin, Rachelle, McBride, Catherine, Hansson, Ola, Asplund, Olof, Heikkinen, Aino E., and Piirilä, Päivi

Subjects
TRANSCRIPTOMES, EXERCISE therapy, MUSCLE aging, DNA methylation, GENE expression, AEROBIC exercises, SHORT tandem repeat analysis
Abstract

Exercise training prevents age‐related decline in muscle function. Targeting epigenetic aging is a promising actionable mechanism and late‐life exercise mitigates epigenetic aging in rodent muscle. Whether exercise training can decelerate, or reverse epigenetic aging in humans is unknown. Here, we performed a powerful meta‐analysis of the methylome and transcriptome of an unprecedented number of human skeletal muscle samples (n = 3176). We show that: (1) individuals with higher baseline aerobic fitness have younger epigenetic and transcriptomic profiles, (2) exercise training leads to significant shifts of epigenetic and transcriptomic patterns toward a younger profile, and (3) muscle disuse "ages" the transcriptome. Higher fitness levels were associated with attenuated differential methylation and transcription during aging. Furthermore, both epigenetic and transcriptomic profiles shifted toward a younger state after exercise training interventions, while the transcriptome shifted toward an older state after forced muscle disuse. We demonstrate that exercise training targets many of the age‐related transcripts and DNA methylation loci to maintain younger methylome and transcriptome profiles, specifically in genes related to muscle structure, metabolism, and mitochondrial function. Our comprehensive analysis will inform future studies aiming to identify the best combination of therapeutics and exercise regimes to optimize longevity. [ABSTRACT FROM AUTHOR]

Published
2024
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35. Association Study of a Comprehensive Panel of Neuropeptide-Related Polymorphisms Suggest Potential Roles in Verbal Learning and Memory.

Author

Avgan, Nesli, Sutherland, Heidi G., Lea, Rod A., Haupt, Larisa M., Shum, David H. K., and Griffiths, Lyn R.

Subjects
VERBAL learning, VERBAL memory, COGNITIVE ability, GENETIC variation, GENETIC polymorphisms
Abstract

Neuropeptides are mostly expressed in regions of the brain responsible for learning and memory and are centrally involved in cognitive pathways. The majority of neuropeptide research has been performed in animal models; with acknowledged differences between species, more research into the role of neuropeptides in humans is necessary to understand their contribution to higher cognitive function. In this study, we investigated the influence of genetic polymorphisms in neuropeptide genes on verbal learning and memory. Variants in genes encoding neuropeptides and neuropeptide receptors were tested for association with learning and memory measures using the Hopkins Verbal Learning Test—Revised (HVLT-R) in a healthy cohort of individuals (n = 597). The HVLT-R is a widely used task for verbal learning and memory assessment and provides five sub-scores: recall, delay, learning, retention, and discrimination. To determine the effect of candidate variants on learning and memory performance, genetic association analyses were performed for each HVLT-R sub-score with over 1300 genetic variants from 124 neuropeptide and neuropeptide receptor genes, genotyped on Illumina OmniExpress BeadChip arrays. This targeted analysis revealed numerous suggestive associations between HVLT-R test scores and neuropeptide and neuropeptide receptor gene variants; candidates include the SCG5, IGFR1, GALR1, OXTR, CCK, and VIPR1 genes. Further characterization of these genes and their variants will improve our understanding of the genetic contribution to learning and memory and provide insight into the importance of the neuropeptide network in humans. [ABSTRACT FROM AUTHOR]

Published
2024
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41. Exercise is associated with younger methylome and transcriptome profiles in human skeletal muscle

Author

Voisin, Sarah, primary, Seale, Kirsten, additional, Jacques, Macsue, additional, Landen, Shanie, additional, Harvey, Nicholas R., additional, Haupt, Larisa M., additional, Griffiths, Lyn R., additional, Ashton, Kevin J., additional, Coffey, Vernon G., additional, Thompson, Jamie‐Lee M., additional, Doering, Thomas M., additional, Lindholm, Malene E., additional, Walsh, Colum, additional, Davison, Gareth, additional, Irwin, Rachelle, additional, McBride, Catherine, additional, Hansson, Ola, additional, Asplund, Olof, additional, Heikkinen, Aino E., additional, Piirilä, Päivi, additional, Pietiläinen, Kirsi H., additional, Ollikainen, Miina, additional, Blocquiaux, Sara, additional, Thomis, Martine, additional, Coletta, Dawn K., additional, Sharples, Adam P., additional, and Eynon, Nir, additional

Published
2023
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44. Associations of autozygosity with a broad range of human phenotypes

Author

Clark, David W, Okada, Yukinori, Moore, Kristjan H S, Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona L K, Lin, Kuang, Zhao, Jing Hua, Deelen, Patrick, Rohde, Rebecca, Schurmann, Claudia, Guo, Xiuqing, Giulianini, Franco, Zhang, Weihua, Medina-Gomez, Carolina, Karlsson, Robert, Bao, Yanchun, Bartz, Traci M, Baumbach, Clemens, Biino, Ginevra, Bixley, Matthew J, Brumat, Marco, Chai, Jin-Fang, Corre, Tanguy, Cousminer, Diana L, Dekker, Annelot M, Eccles, David A, van Eijk, Kristel R, Fuchsberger, Christian, Gao, He, Germain, Marine, Gordon, Scott D, de Haan, Hugoline G, Harris, Sarah E, Hofer, Edith, Huerta-Chagoya, Alicia, Igartua, Catherine, Jansen, Iris E, Jia, Yucheng, Kacprowski, Tim, Karlsson, Torgny, Kleber, Marcus E, Li, Shengchao Alfred, Li-Gao, Ruifang, Mahajan, Anubha, Matsuda, Koichi, Meidtner, Karina, Meng, Weihua, Montasser, May E, van der Most, Peter J, Munz, Matthias, Nutile, Teresa, Palviainen, Teemu, Prasad, Gauri, Prasad, Rashmi B, Priyanka, Tallapragada Divya Sri, Rizzi, Federica, Salvi, Erika, Sapkota, Bishwa R, Shriner, Daniel, Skotte, Line, Smart, Melissa C, Smith, Albert Vernon, van der Spek, Ashley, Spracklen, Cassandra N, Strawbridge, Rona J, Tajuddin, Salman M, Trompet, Stella, Turman, Constance, Verweij, Niek, Viberti, Clara, Wang, Lihua, Warren, Helen R, Wootton, Robyn E, Yanek, Lisa R, Yao, Jie, Yousri, Noha A, Zhao, Wei, Adeyemo, Adebowale A, Afaq, Saima, Aguilar-Salinas, Carlos Alberto, Akiyama, Masato, Albert, Matthew L, Allison, Matthew A, Alver, Maris, Aung, Tin, Azizi, Fereidoun, Bentley, Amy R, Boeing, Heiner, Boerwinkle, Eric, Borja, Judith B, de Borst, Gert J, Bottinger, Erwin P, Broer, Linda, Campbell, Harry, Chanock, Stephen, Chee, Miao-Li, Chen, Guanjie, Chen, Yii-Der I, Chen, Zhengming, Chiu, Yen-Feng, Cocca, Massimiliano, Collins, Francis S, Concas, Maria Pina, Corley, Janie, Cugliari, Giovanni, van Dam, Rob M, Damulina, Anna, Daneshpour, Maryam S, Day, Felix R, Delgado, Graciela E, Dhana, Klodian, Doney, Alexander S F, Dörr, Marcus, Doumatey, Ayo P, Dzimiri, Nduna, Ebenesersdóttir, S Sunna, Elliott, Joshua, Elliott, Paul, Ewert, Ralf, Felix, Janine F, Fischer, Krista, Freedman, Barry I, Girotto, Giorgia, Goel, Anuj, Gögele, Martin, Goodarzi, Mark O, Graff, Mariaelisa, Granot-Hershkovitz, Einat, Grodstein, Francine, Guarrera, Simonetta, Gudbjartsson, Daniel F, Guity, Kamran, Gunnarsson, Bjarni, Guo, Yu, Hagenaars, Saskia P, Haiman, Christopher A, Halevy, Avner, Harris, Tamara B, Hedayati, Mehdi, van Heel, David A, Hirata, Makoto, Höfer, Imo, Hsiung, Chao Agnes, Huang, Jinyan, Hung, Yi-Jen, Ikram, M Arfan, Jagadeesan, Anuradha, Jousilahti, Pekka, Kamatani, Yoichiro, Kanai, Masahiro, Kerrison, Nicola D, Kessler, Thorsten, Khaw, Kay-Tee, Khor, Chiea Chuen, de Kleijn, Dominique P V, Koh, Woon-Puay, Kolcic, Ivana, Kraft, Peter, Krämer, Bernhard K, Kutalik, Zoltán, Kuusisto, Johanna, Langenberg, Claudia, Launer, Lenore J, Lawlor, Deborah A, Lee, I-Te, Lee, Wen-Jane, Lerch, Markus M, Li, Liming, Liu, Jianjun, Loh, Marie, London, Stephanie J, Loomis, Stephanie, Lu, Yingchang, Luan, Jian’an, Mägi, Reedik, Manichaikul, Ani W, Manunta, Paolo, Másson, Gísli, Matoba, Nana, Mei, Xue W, Meisinger, Christa, Meitinger, Thomas, Mezzavilla, Massimo, Milani, Lili, Millwood, Iona Y, Momozawa, Yukihide, Moore, Amy, Morange, Pierre-Emmanuel, Moreno-Macías, Hortensia, Mori, Trevor A, Morrison, Alanna C, Muka, Taulant, Murakami, Yoshinori, Murray, Alison D, de Mutsert, Renée, Mychaleckyj, Josyf C, Nalls, Mike A, Nauck, Matthias, Neville, Matt J, Nolte, Ilja M, Ong, Ken K, Orozco, Lorena, Padmanabhan, Sandosh, Pálsson, Gunnar, Pankow, James S, Pattaro, Cristian, Pattie, Alison, Polasek, Ozren, Poulter, Neil, Pramstaller, Peter P, Quintana-Murci, Lluis, Räikkönen, Katri, Ralhan, Sarju, Rao, Dabeeru C, van Rheenen, Wouter, Rich, Stephen S, Ridker, Paul M, Rietveld, Cornelius A, Robino, Antonietta, van Rooij, Frank J A, Ruggiero, Daniela, Saba, Yasaman, Sabanayagam, Charumathi, Sabater-Lleal, Maria, Sala, Cinzia Felicita, Salomaa, Veikko, Sandow, Kevin, Schmidt, Helena, Scott, Laura J, Scott, William R, Sedaghati-Khayat, Bahareh, Sennblad, Bengt, van Setten, Jessica, Sever, Peter J, Sheu, Wayne H-H, Shi, Yuan, Shrestha, Smeeta, Shukla, Sharvari Rahul, Sigurdsson, Jon K, Sikka, Timo Tonis, Singh, Jai Rup, Smith, Blair H, Stančáková, Alena, Stanton, Alice, Starr, John M, Stefansdottir, Lilja, Straker, Leon, Sulem, Patrick, Sveinbjornsson, Gardar, Swertz, Morris A, Taylor, Adele M, Taylor, Kent D, Terzikhan, Natalie, Tham, Yih-Chung, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tillander, Annika, Tracy, Russell P, Tusié-Luna, Teresa, Tzoulaki, Ioanna, Vaccargiu, Simona, Vangipurapu, Jagadish, Veldink, Jan H, Vitart, Veronique, Völker, Uwe, Vuoksimaa, Eero, Wakil, Salma M, Waldenberger, Melanie, Wander, Gurpreet S, Wang, Ya Xing, Wareham, Nicholas J, Wild, Sarah, Yajnik, Chittaranjan S, Yuan, Jian-Min, Zeng, Lingyao, Zhang, Liang, Zhou, Jie, Amin, Najaf, Asselbergs, Folkert W, Bakker, Stephan J L, Becker, Diane M, Lehne, Benjamin, Bennett, David A, van den Berg, Leonard H, Berndt, Sonja I, Bharadwaj, Dwaipayan, Bielak, Lawrence F, Bochud, Murielle, Boehnke, Mike, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Campbell, Archie, Carmi, Shai, Caulfield, Mark J, Cesarini, David, Chambers, John C, Chandak, Giriraj Ratan, Cheng, Ching-Yu, Ciullo, Marina, Cornelis, Marilyn, Cusi, Daniele, Smith, George Davey, Deary, Ian J, Dorajoo, Rajkumar, van Duijn, Cornelia M, Ellinghaus, David, Erdmann, Jeanette, Eriksson, Johan G, Evangelou, Evangelos, Evans, Michele K, Faul, Jessica D, Feenstra, Bjarke, Feitosa, Mary, Foisy, Sylvain, Franke, Andre, Friedlander, Yechiel, Gasparini, Paolo, Gieger, Christian, Gonzalez, Clicerio, Goyette, Philippe, Grant, Struan F A, Griffiths, Lyn R, Groop, Leif, Gudnason, Vilmundur, Gyllensten, Ulf, Hakonarson, Hakon, Hamsten, Anders, van der Harst, Pim, Heng, Chew-Kiat, Hicks, Andrew A, Hochner, Hagit, Huikuri, Heikki, Hunt, Steven C, Jaddoe, Vincent W V, De Jager, Philip L, Johannesson, Magnus, Johansson, Åsa, Jonas, Jost B, Jukema, J Wouter, Junttila, Juhani, Kaprio, Jaakko, Kardia, Sharon L. R., Karpe, Fredrik, Kumari, Meena, Laakso, Markku, van der Laan, Sander W, Lahti, Jari, Laudes, Matthias, Lea, Rodney A, Lieb, Wolfgang, Lumley, Thomas, Martin, Nicholas G, März, Winfried, Matullo, Giuseppe, McCarthy, Mark I, Medland, Sarah E, Merriman, Tony R, Metspalu, Andres, Meyer, Brian F, Mohlke, Karen L, Montgomery, Grant W, Mook-Kanamori, Dennis, Munroe, Patricia B, North, Kari E, Nyholt, Dale R, O’connell, Jeffery R, Ober, Carole, Oldehinkel, Albertine J, Palmas, Walter, Palmer, Colin, Pasterkamp, Gerard G, Patin, Etienne, Pennell, Craig E, Perusse, Louis, Peyser, Patricia A, Pirastu, Mario, Polderman, Tinca J. C., Porteous, David J, Posthuma, Danielle, Psaty, Bruce M, Rioux, John D, Rivadeneira, Fernando, Rotimi, Charles, Rotter, Jerome I, Rudan, Igor, Den Ruijter, Hester M, Sanghera, Dharambir K, Sattar, Naveed, Schmidt, Reinhold, Schulze, Matthias B, Schunkert, Heribert, Scott, Robert A, Shuldiner, Alan R, Sim, Xueling, Small, Neil, Smith, Jennifer A, Sotoodehnia, Nona, Tai, E-Shyong, Teumer, Alexander, Timpson, Nicholas J, Toniolo, Daniela, Tregouet, David-Alexandre, Tuomi, Tiinamaija, Vollenweider, Peter, Wang, Carol A, Weir, David R, Whitfield, John B, Wijmenga, Cisca, Wong, Tien-Yin, Wright, John, Yang, Jingyun, Yu, Lei, Zemel, Babette S, Zonderman, Alan B, Perola, Markus, Magnusson, Patrik K. E., Uitterlinden, André G, Kooner, Jaspal S, Chasman, Daniel I, Loos, Ruth J. F., Franceschini, Nora, Franke, Lude, Haley, Chris S, Hayward, Caroline, Walters, Robin G, Perry, John R. B., Esko, Tōnu, Helgason, Agnar, Stefansson, Kari, Joshi, Peter K, Kubo, Michiaki, and Wilson, James F

Published
2019
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49. Exercise is associated with younger methylome and transcriptome profiles in human skeletal muscle

Author

Voisin, Sarah, primary, Seale, Kirsten, additional, Jacques, Macsue, additional, Landen, Shanie, additional, Harvey, Nicholas R, additional, Haupt, Larisa M, additional, Griffiths, Lyn R, additional, Ashton, Kevin J, additional, Coffey, Vernon G, additional, Thompson, Jamie-Lee M, additional, Doering, Thomas M, additional, Lindholm, Malene E, additional, Walsh, Colum, additional, Davison, Gareth, additional, Irwin, Rachelle, additional, McBride, Catherine, additional, Hansson, Ola, additional, Asplund, Olof, additional, Heikkinen, Aino E, additional, Piirilä, Päivi, additional, Pietiläinen, Kirsi H, additional, Ollikainen, Miina, additional, Blocquiaux, Sara, additional, Thomis, Martine, additional, Coletta, Dawn K, additional, Sharples, Adam P, additional, and Eynon, Nir, additional

Published
2022
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