☆ 4.6 Editorial Material

Common and rare genetic variants and risk of CHD

NATURE REVIEWS CARDIOLOGY (2017)

Journal

NATURE REVIEWS CARDIOLOGY

Volume 14, Issue 2, Pages 73-74

Publisher

NATURE PUBLISHING GROUP

DOI: 10.1038/nrcardio.2016.209

Keywords

-

Categories

Cardiac & Cardiovascular Systems

Funding

National Institute for Health Research Academic Clinical Fellowship
National Institute for Health Research, University College London and Hospitals Biomedical Research Centre
British Heart Foundation [PG08/008]
British Heart Foundation [RG/08/008/25291] Funding Source: researchfish
National Institute for Health Research [ACF-2015-21-003] Funding Source: researchfish

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Abstract

Much of the progress in cardiovascular genetics in 2016 has been driven by next-generation sequencing studies, and the clinical utility of knowing an individual's genotype for predicting their risk of cardiovascular disease is gaining credibility, both for monogenic and polygenic disorders. Additionally, phenotype data are increasingly abundant, although databases linking genotype with clinically relevant phenotypes require optimization.

Authors

I am an author on this paper

Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.6

Not enough ratings

Secondary Ratings

Novelty

-

Significance

-

Scientific rigor

-

Rate this paper

Recommended

Article Critical Care Medicine

Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis

David Zhang, Gundula Povysil, Philippe H. Kobeissy, Qi Li, Binhan Wang, Mason Amelotte, Hager Jaouadi, Chad A. Newton, Toby M. Maher, Philip L. Molyneaux, Imre Noth, Fernando J. Martinez, Ganesh Raghu, Jamie L. Todd, Scott M. Palmer, Carolina Haefliger, Adam Platt, Slave Petrovski, Joseph A. Garcia, David B. Goldstein, Christine Kim Garcia

Summary: Through gene burden analysis and functional studies, rare deleterious variants in KIF15 and three telomere-related genes were found to be enriched in IPF. Functional studies of KIF15 suggest its involvement in cell proliferation and IPF susceptibility.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients

Melania Lippi, Mattia Chiesa, Ciro Ascione, Matteo Pedrazzini, Saima Mushtaq, Davide Rovina, Daniela Riggio, Anna Maria Di Blasio, Maria Luisa Biondi, Giulio Pompilio, Gualtiero Colombo, Michela Casella, Valeria Novelli, Elena Sommariva

Summary: By performing next-generation sequencing on ACM patients, we identified pathogenic variants and variants of uncertain significance in genes associated with ACM, as well as high-impact variants in genes not previously linked to ACM. Furthermore, we found significant genotype-phenotype associations between common variants and clinical parameters.

BIOMOLECULES (2022)

Add to Collection

Article Critical Care Medicine

Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants

Anna L. Peljto, Rachel Z. Blumhagen, Avram D. Walts, Jonathan Cardwell, Julia Powers, Tamera J. Corte, Joanne L. Dickinson, Ian Glaspole, Yuben P. Moodley, Martina Koziar Vasakova, Elisabeth Bendstrup, Jesper R. Davidsen, Raphael Borie, Bruno Crestani, Philippe Dieude, Francesco Bonella, Ulrich Costabel, Gunnar Gudmundsson, Seamas C. Donnelly, Jim Egan, Michael T. Henry, Michael P. Keane, Marcus P. Kennedy, Cormac McCarthy, Aoife N. McElroy, Joshua A. Olaniyi, Katherine M. A. O'Reilly, Luca Richeldi, Paolo M. Leone, Venerino Poletti, Francesco Puppo, Sara Tomassetti, Valentina Luzzi, Nurdan Kokturk, Nesrin Mogulkoc, Christine A. Fiddler, Nikhil Hirani, R. Gisli Jenkins, Toby M. Maher, Philip L. Molyneaux, Helen Parfrey, Rebecca Braybrooke, Timothy S. Blackwell, Peter D. Jackson, Steven D. Nathan, Mary K. Porteous, Kevin K. Brown, Jason D. Christie, Harold R. Collard, Oliver Eickelberg, Elena E. Foster, Kevin F. Gibson, Marilyn Glassberg, Daniel J. Kass, Jonathan A. Kropski, David Lederer, Angela L. Linderholm, Jim Loyd, Susan K. Mathai, Sydney B. Montesi, Imre Noth, Justin M. Oldham, Amy J. Palmisciano, Cristina A. Reichner, Mauricio Rojas, Jesse Roman, Neil Schluger, Barry S. Shea, Jeffrey J. Swigris, Paul J. Wolters, Yingze Zhang, Cecilia M. A. Prele, Juan I. Enghelmayer, Maria Otaola, Christopher J. Ryerson, Mauricio Salinas, Martina Sterclova, Tewodros H. Gebremariam, Marjukka Myllarniemi, Roberto G. Carbone, Haruhiko Furusawa, Masaki Hirose, Yoshikazu Inoue, Yasunari Miyazaki, Ken Ohta, Shin Ohta, Tsukasa Okamoto, Dong Soon Kim, Annie Pardo, Moises Selman, Alvaro U. Aranda, Moo Suk Park, Jong Sun Park, Jin Woo Song, Maria Molina-Molina, Lurdes Planas-Cerezales, Gunilla Westergren-Thorsson, Albert V. Smith, Ani W. Manichaikul, John S. Kim, Stephen S. Rich, Elizabeth C. Oelsner, R. Graham Barr, Jerome I. Rotter, Josee Dupuis, George O'Connor, Ramachandran S. Vasan, Michael H. Cho, Edwin K. Silverman, Marvin I. Schwarz, Mark P. Steele, Joyce S. Lee, Ivana V. Yang, Tasha E. Fingerlin, David A. Schwartz

Summary: This study investigated the role of rare variants, genome-wide, on the risk of idiopathic pulmonary fibrosis (IPF) using whole-genome sequencing. The results showed that rare variants within the TERT and RTEL1 genes were significantly associated with IPF, along with well-established common variants. Therefore, including TERT, RTEL1, common variants, and environmental risk factors in risk profiling and IPF therapy development is likely to have the largest impact on this complex disease.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2023)

Add to Collection

Article Immunology

Common and Rare Variants Genetic Association Analysis of Circulating Neutrophil Extracellular Traps

Samantha J. Donkel, Eliana Portilla Fernandez, Shahzad Ahmad, Fernando Rivadeneira, Frank J. A. van Rooij, M. Arfan Ikram, Frank W. G. Leebeek, Moniek P. M. de Maat, Mohsen Ghanbari

Summary: In this study, a genome-wide association study (GWAS) and exome-sequencing analysis were conducted to identify genetic variants associated with plasma myeloperoxidase (MPO)-DNA complex levels, a biomarker for neutrophil extracellular traps (NETs), in a population-based cohort. Several common and rare genetic variants in candidate genes were found to be associated with NETs levels. Pathway analysis revealed involvement in cellular development, molecular transport, RNA trafficking, and cancer association. Further experimental studies are needed to elucidate the precise mechanisms of how these genes contribute to neutrophil function or NET formation.

FRONTIERS IN IMMUNOLOGY (2021)

Add to Collection

Article Clinical Neurology

Probability of Alzheimer's disease based on common and rare genetic variants

Valentina Escott-Price, Karl Michael Schmidt

Summary: This study developed a method to estimate Alzheimer's disease risk by combining polygenic risk score (PRS), APOE, rare variants, and disease prevalence in age groups. The results showed that AD probability varies with age, APOE status, and presence of rare variants. This approach has the potential for clinical use and can be updated with new rare variants and genome-wide association data.

ALZHEIMERS RESEARCH & THERAPY (2021)

Add to Collection

Article Genetics & Heredity

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Andrew R. Harper, Anuj Goel, Christopher Grace, Kate L. Thomson, Steffen E. Petersen, Xiao Xu, Adam Waring, Elizabeth Ormondroyd, Christopher M. Kramer, Carolyn Y. Ho, Stefan Neubauer, Rafik Tadros, James S. Ware, Connie R. Bezzina, Martin Farrall, Hugh Watkins

Summary: The study identified 12 genome-wide significant susceptibility loci for HCM, showing a strong polygenic influence, especially for sarcomere-negative HCM. A genetic risk score influenced the odds of HCM and phenotypic severity in carriers of sarcomere variants. Mendelian randomization identified diastolic blood pressure as a key modifiable risk factor for sarcomere-negative HCM.

NATURE GENETICS (2021)

Add to Collection

Article Biochemistry & Molecular Biology

Glucocorticoids unmask silent non-coding genetic risk variants for common diseases

Thanh Thanh L. Nguyen, Huanyao Gao, Duan Liu, Trudy Janice Philips, Zhenqing Ye, Jeong-Heon Lee, Geng-xian Shi, Kaleigh Copenhaver, Lingxin Zhang, Lixuan Wei, Jia Yu, Huan Zhang, Abhijeet Barath, Maggie Luong, Cheng Zhang, Alexandre Gaspar-Maia, Hu Li, Liewei Wang, Tamas Ordog, Richard M. Weinshilboum

Summary: Understanding the function of non-coding genomic sequence variants is a challenge for biomedicine. This study focuses on non-coding variants that influence gene expression after drug or hormone exposure and provides a mechanistic framework for understanding their role in disease risk and drug response. The research identified cis-regulatory elements and 3D interactions underlying the associations between variants and gene expression, and found that many of these variants were associated with clinical phenotypes relevant to diseases such as autoimmunity, metabolic and mood disorders, osteoporosis, and cancer.

NUCLEIC ACIDS RESEARCH (2022)

Add to Collection

Article Multidisciplinary Sciences

The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID)

Atil Bisgin, Ozge Sonmezler, Ibrahim Boga, Mustafa Yilmaz

Summary: NGS of 103 CVID patients identified 112 different rare variants, with 49.1% classified as variants of uncertain significance and 1.8% classified as pathogenic. Rare variants in different genes were found to play a prominent role in disease susceptibility and etiology. However, the frequencies of these variants differed from population frequency databases.

SCIENTIFIC REPORTS (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Doris Skoric-Milosavljevic, Rafik Tadros, Fernanda M. Bosada, Federico Tessadori, Jan Hendrik van Weerd, Odilia Woudstra, Fleur V. Y. Tjong, Najim Lahrouchi, Fanny Bajolle, Heather J. Cordell, A. J. Agopian, Gillian M. Blue, Daniela Q. C. M. Barge-Schaapveld, Marc Gewillig, Christoph Preuss, Elisabeth M. Lodder, Phil Barnett, Aho Ilgun, Leander Beekman, Karel van Duijvenboden, Regina Bokenkamp, Martina Muller-Nurasyid, Hubert W. Vliegen, Thelma C. Konings, Joost P. van Melle, Arie P. J. van Dijk, Roland R. J. van Kimmenade, Jolien W. Roos-Hesselink, Gertjan Sieswerda, Folkert Meijboom, Hashim Abdul-Khaliq, Felix Berger, Sven Dittrich, Marc-Phillip Hitz, Julia Moosmann, Frank-Thomas Riede, Stephan Schubert, Pilar Galan, Mark Lathrop, Hans Markus Munter, Ammar Al-Chalabi, Christopher E. Shaw, Pamela J. Shaw, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Sylvia Evans, Marcelo A. Nobrega, Ivy Aneas, Milena Radivojkov-Blagojevic, Thomas Meitinger, Erwin Oechslin, Tapas Mondal, M. Lynn Bergin, John F. Smythe, Luis Altamirano-Diaz, Jane Lougheed, Berto J. Bouma, Marie A. Chaix, Jennie Kline, Anne S. Bassett, Gregor Andelfinger, Roel L. F. van der Palen, Patrice Bouvagnet, Sally-Ann B. Clur, Jeroen Breckpot, Wilhelmina S. Kerstjens-Frederikse, David S. Winlaw, Ulrike M. M. Bauer, Seema Mital, Elizabeth Goldmuntz, Bernard Keavney, Damien Bonnet, Barbara J. Mulder, Michael W. T. Tanck, Jeroen Bakkers, Vincent M. Christoffels, Cornelis J. Boogerd, Alex Postma, Connie R. Bezzina

Summary: This study reveals the genetic mechanism of dextro-transposition of the great arteries (D-TGA), identifies a susceptibility locus near the WNT5A gene, and confirms the role of WNT5A in D-TGA. The findings provide important insights for the treatment of D-TGA.

CIRCULATION RESEARCH (2022)

Add to Collection

Article Multidisciplinary Sciences

Rare genetic variants impact muscle strength

Yunfeng Huang, Dora Bodnar, Chia-Yen Chen, Gabriela Sanchez-Andrade, Mark Sanderson, Jun E. Shi, Katherine S. Meilleur, Matthew A. Hurles, Sebastian Gerety, Ellen Tsai, Heiko Runz

Summary: The authors conducted an exome study on hand grip strength, which serves as a proxy for overall muscle strength. They discovered six significant genes, associated with diseases, and found that rare and common genetic variants both contribute to muscle strength. Muscle strength has a strong genetic basis and is a predictor of various negative health outcomes, including mortality.

NATURE COMMUNICATIONS (2023)

Add to Collection

Article Clinical Neurology

Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke

Thomas Jaworek, Huichun Xu, Brady J. Gaynor, John W. Cole, Kristiina Rannikmae, Tara M. Stanne, Liisa Tomppo, Vida Abedi, Philippe Amouyel, Nicole D. Armstrong, John Attia, Steven Bell, Oscar R. Benavente, Giorgio B. Boncoraglio, Adam Butterworth, Jara Carcel-Marquez, Zhengming Chen, Michael Chong, Carlos Cruchaga, Mary Cushman, John Danesh, Stephanie Debette, David J. Duggan, Jon Peter Durda, Gunnar Engstrom, Chris Enzinger, Jessica D. Faul, Natalie S. Fecteau, Israel Fernandez-Cadenas, Christian Gieger, Anne-Katrin Giese, Raji P. Grewal, Ulrike Grittner, Aki S. Havulinna, Laura Heitsch, Marc C. Hochberg, Elizabeth Holliday, Jie Hu, Andreea Ilinca, Marguerite R. Irvin, Rebecca D. Jackson, Mina A. Jacob, Raquel Rabionet, Jordi Jimenez-Conde, Julie A. Johnson, Yoichiro Kamatani, Sharon L. R. Kardia, Masaru Koido, Michiaki Kubo, Leslie Lange, Jin-Moo Lee, Robin Lemmens, Christopher R. Levi, Jiang Li, Liming Li, Kuang Lin, Haley Lopez, Sothear Luke, Jane Maguire, Patrick F. McArdle, Caitrin W. McDonough, James F. Meschia, Tiina Metso, Martina Mueller-Nurasyid, Timothy D. O'Connor, Martin O'Donnell, Leema R. Peddareddygari, Joanna Pera, James A. Perry, Annette Peters, Jukka Putaala, Debashree Ray, Kathryn Rexrode, Marta Ribases, Jonathan Rosand, Peter M. Rothwell, Tatjana Rundek, Kathleen A. Ryan, Ralph L. Sacco, Veikko Salomaa, Cristina Sanchez-Mora, Reinhold Schmidt, Pankaj Sharma, Agnieszka Slowik, Jennifer A. Smith, Nicholas L. Smith, Sylvia Wassertheil-Smoller, Martin Soderholm, O. Colin Stine, Daniel Strbian, Cathie L. M. Sudlow, Turgut Tatlisumak, Chikashi Terao, Vincent Thijs, Nuria P. Torres-Aguila, David-Alexandre Tregouet, Anil M. Tuladhar, Jan H. Veldink, Robin G. Walters, David R. Weir, Daniel Woo, Bradford B. Worrall, Charles C. Hong, Owen A. Ross, Ramin Zand, Frank-Erik de Leeuw, Arne G. Lindgren, Guillaume Pare, Christopher D. Anderson, Hugh S. Markus, Christina Jern, Rainer Malik, Martin Dichgans, Braxton D. Mitchell, Steven J. Kittner

Summary: Genome-wide association studies of early-onset ischemic stroke identified significant associations with ABO variants and genetic risk for venous thrombosis, suggesting a stronger role of prothrombotic factors in early-onset stroke compared to late-onset stroke.

NEUROLOGY (2022)

Add to Collection

Article Ophthalmology

Common and rare genetic risk variants in age-related macular degeneration and genetic risk score in the Coimbra eye study

Claudia Farinha, Patricia Barreto, Rita Coimbra, Maria Luz Cachulo, Joana Barbosa Melo, Jose Cunha-Vaz, Yara Lechanteur, Carel B. Hoyng, Rufino Silva

Summary: This study found that both common and rare genetic variants are associated with AMD, with a rare CFH variant conferring the highest risk of the disease. However, the allele frequency of three major risk variants is lower than expected in the population studied.

ACTA OPHTHALMOLOGICA (2023)

Add to Collection

Article Multidisciplinary Sciences

The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians

Young Jin Kim, Sanghoon Moon, Mi Yeong Hwang, Sohee Han, Hye-Mi Jang, Jinhwa Kong, Dong Mun Shin, Kyungheon Yoon, Sung Min Kim, Jong-Eun Lee, Anubha Mahajan, Hyun-Young Park, Mark McCarthy, Yoon Shin Cho, Bong-Jo Kim

Summary: By conducting a genome-wide meta-analysis for metabolic traits in 288,137 East Asians, the authors highlight the interplay of common and rare variants on inherited risk of metabolic traits.

NATURE COMMUNICATIONS (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Family-based analysis of the contribution of rare and common genetic variants to school performance in schizophrenia

Alexandros Rammos, George Kirov, Leon Hubbard, James T. R. Walters, Peter Holmans, Michael J. Owen, Michael C. O'Donovan, Elliott Rees

Summary: Impaired cognition in schizophrenia is associated with worse functional outcomes. Genetic factors, including both common and rare variants, contribute to school performance in schizophrenia. Damaging de novo coding variants in genes associated with developmental disorders have significant effects on school performance, and are also linked to comorbid mild intellectual disability. Non-transmitted parental common alleles do not have significant effects on school performance in schizophrenia.

MOLECULAR PSYCHIATRY (2023)

Add to Collection

Article Urology & Nephrology

Combined Effect of a Polygenic Risk Score and Rare Genetic Variants on Prostate Cancer Risk

Burcu F. Darst, Xin Sheng, Rosalind A. Eeles, Zsofia Kote-Jarai, David V. Conti, Christopher A. Haiman

Summary: The study revealed that the risk of prostate cancer from rare variants could vary based on an individual's genetic profile of common risk variants. Therefore, to comprehensively assess genetic risk of prostate cancer, it is crucial to consider both rare and common variants.

EUROPEAN UROLOGY (2021)

Add to Collection

Article Nutrition & Dietetics

Alcohol consumption in relation to carotid subclinical atherosclerosis and its progression: results from a European longitudinal multicentre study

Federica Laguzzi, Damiano Baldassarre, Fabrizio Veglia, Rona J. Strawbridge, Steve E. Humphries, Rainer Rauramaa, Andries J. Smit, Philippe Giral, Angela Silveira, Elena Tremoli, Anders Hamsten, Ulf de Faire, Paolo Frumento, Karin Leander

Summary: Based on data from a European multicentre study, this research found an inverse association between moderate alcohol consumption and carotid subclinical atherosclerosis and its 30-month progression. The relationship between alcohol consumption and C-IMT appears to be linear.

EUROPEAN JOURNAL OF NUTRITION (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Metabolic Dysregulation of the Lysophospholipid/Autotaxin Axis in the Chromosome 9p21 Gene SNP rs10757274

Sven W. Meckelmann, Jade Hawksworth, Daniel A. White, Robert Andrews, Patricia R. S. Rodrigues, Anne O'Connor, Jorge Alvarez-Jarreta, Victoria Tyrrell, Christine Hinz, You Zhou, Julie Williams, Maceler Aldrovandi, William John Watkins, Adam Engler, David A. Slatter, Stuart Allen, Jay Acharya, Jacquie Mitchell, Jackie Cooper, Junken Aoki, Kuniyuki Kano, Steve Humphries, Valerie O'Donnell, Valentina Lo Sardo

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2020)

Add to Collection

Review Biochemistry & Molecular Biology

Non-HDL or LDL cholesterol in heterozygous familial hypercholesterolaemia: findings of the Simon Broome Register

Handrean Soran, Jackie A. Cooper, Paul N. Durrington, Nigel Capps, Ian Fw McDowell, Steve E. Humphries, Andrew Neil

CURRENT OPINION IN LIPIDOLOGY (2020)

Add to Collection

Review Pediatrics

Management of familial hypercholesterolaemia in childhood

Uma Ramaswami, Steve E. Humphries

CURRENT OPINION IN PEDIATRICS (2020)

Add to Collection

Article Medical Laboratory Technology

Establishing reference intervals for triglyceride-containing lipoprotein subfraction metabolites measured using nuclear magnetic resonance spectroscopy in a UK population

Roshni Joshi, Goya Wannamethee, Jorgen Engmann, Tom Gaunt, Deborah A. Lawlor, Jackie Price, Olia Papacosta, Tina Shah, Therese Tillin, Peter Whincup, Nishi Chaturvedi, Mika Kivimaki, Diana Kuh, Meena Kumari, Alun D. Hughes, Juan P. Casas, Steve E. Humphries, Aroon D. Hingorani, A. Floriaan Schmidt

Summary: This study measured 14 triglyceride-containing lipoprotein subfraction metabolites using nuclear magnetic resonance in a general population sample, establishing reference interval ranges. The results showed that triglyceride subfraction concentrations increased with age and body mass index, were higher in smokers, and in individuals with cardiovascular disease or type 2 diabetes. These findings emphasize the importance of appropriate reference interval ranges for clinical decision making regarding the role of triglycerides in cardiovascular disease.

ANNALS OF CLINICAL BIOCHEMISTRY (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Sex differences in cardiovascular morbidity associated with familial hypercholesterolaemia: A retrospective cohort study of the UK Simon Broome register linked to national hospital records

Barbara Iyen, Nadeem Qureshi, Stephen Weng, Paul Roderick, Joe Kai, Nigel Capps, Paul N. Durrington, Ian F. W. McDowell, Handrean Soran, Andrew Neil, Steve E. Humphries

ATHEROSCLEROSIS (2020)

Add to Collection

Article Multidisciplinary Sciences

The overlap of genetic susceptibility to schizophrenia and cardiometabolic disease can be used to identify metabolically different groups of individuals

Rona J. Strawbridge, Keira J. A. Johnston, Mark E. S. Bailey, Damiano Baldassarre, Breda Cullen, Per Eriksson, Ulf deFaire, Amy Ferguson, Bruna Gigante, Philippe Giral, Nicholas Graham, Anders Hamsten, Steve E. Humphries, Sudhir Kurl, Donald M. Lyall, Laura M. Lyall, Jill P. Pell, Matteo Pirro, Kai Savonen, Andries J. Smit, Elena Tremoli, Tomi-Pekka Tomainen, Fabrizio Veglia, Joey Ward, Bengt Sennblad, Daniel J. Smith

Summary: This study identified genetic associations between psychiatric disorders and cardiometabolic diseases in individuals of European ancestry, leading to the identification of sub-groups with distinct metabolic profiles. These findings were consistent across different samples, indicating potential implications for personalized approaches to managing cardiometabolic risks in individuals with severe mental illness.

SCIENTIFIC REPORTS (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

Marta Futema, Uma Ramaswami, Lukas Tichy, Martin P. Bogsrud, Kirsten B. Holven, Jeanine Roeters van Lennep, Albert Wiegman, Olivier S. Descamps, Anne De Leener, Elodie Fastre, Michal Vrablik, Tomas Freiberger, Harald Esterbauer, Hans Dieplinger, Susanne Greber-Platzer, Ana M. Medeiros, Mafalda Bourbon, Vasiliki Mollaki, Euridiki Drogari, Steve E. Humphries

Summary: The most common cause of familial hypercholesterolaemia in children from eight European countries was found to be LDLR mutation, with significant variations in the prevalence of APOB p.(Arg3527Gln) mutation across different countries. LDLR-FH was associated with higher concentrations of LDL-C and a family history of coronary heart disease compared to APOB-FH in children.

ATHEROSCLEROSIS (2021)

Add to Collection

Article Biochemistry & Molecular Biology

Genome-wide association study of circulating interleukin 6 levels identifies novel loci

Tarunveer S. Ahluwalia, Bram P. Prins, Mohammadreza Abdollahi, Nicola J. Armstrong, Stella Aslibekyan, Lisa Bain, Barbara Jefferis, Jens Baumert, Marian Beekman, Yoav Ben-Shlomo, Joshua C. Bis, Braxton D. Mitchell, Eco de Geus, Graciela E. Delgado, Diana Marek, Joel Eriksson, Eero Kajantie, Stavroula Kanoni, John P. Kemp, Chen Lu, Riccardo E. Marioni, Stela McLachlan, Yuri Milaneschi, Ilja M. Nolte, Alexandros M. Petrelis, Eleonora Porcu, Maria Sabater-Lleal, Elnaz Naderi, Ilkka Seppala, Tina Shah, Gaurav Singhal, Marie Standl, Alexander Teumer, Anbupalam Thalamuthu, Elisabeth Thiering, Stella Trompet, Christie M. Ballantyne, Emelia J. Benjamin, Juan P. Casas, Catherine Toben, George Dedoussis, Joris Deelen, Peter Durda, Jorgen Engmann, Mary F. Feitosa, Harald Grallert, Ann Hammarstedt, Sarah E. Harris, Georg Homuth, Jouke-Jan Hottenga, Sirpa Jalkanen, Yalda Jamshidi, Magdalene C. Jawahar, Tine Jess, Mika Kivimaki, Marcus E. Kleber, Jari Lahti, Yongmei Liu, Pedro Marques-Vidal, Dan Mellstrom, Simon P. Mooijaart, Martina Muller-Nurasyid, Brenda Penninx, Joana A. Revez, Peter Rossing, Katri Raikkonen, Naveed Sattar, Hubert Scharnagl, Bengt Sennblad, Angela Silveira, Beate St Pourcain, Nicholas J. Timpson, Julian Trollor, Jenny van Dongen, Diana Van Heemst, Sophie Visvikis-Siest, Peter Vollenweider, Uwe Volker, Melanie Waldenberger, Gonneke Willemsen, Delilah Zabaneh, Richard W. Morris, Donna K. Arnett, Bernhard T. Baune, Dorret Boomsma, Yen-Pei C. Chang, Ian J. Deary, Panos Deloukas, Johan G. Eriksson, David M. Evans, Manuel A. Ferreira, Tom Gaunt, Vilmundur Gudnason, Anders Hamsten, Joachim Heinrich, Aroon Hingorani, Steve E. Humphries, J. Wouter Jukema, Wolfgang Koenig, Meena Kumari, Zoltan Kutalik, Deborah A. Lawlor, Terho Lehtimaki, Winfried Marz, Karen A. Mather, Silvia Naitza, Matthias Nauck, Claes Ohlsson, Jackie F. Price, Olli Raitakari, Ken Rice, Perminder S. Sachdev, Eline Slagboom, Thorkild I. A. Sorensen, Tim Spector, David Stacey, Maria G. Stathopoulou, Toshiko Tanaka, S. Goya Wannamethee, Peter Whincup, Jerome Rotter, Abbas Dehghan, Eric Boerwinkle, Bruce M. Psaty, Harold Snieder, Behrooz Z. Alizadeh

Summary: This study identified novel genetic loci influencing circulating IL-6 levels, uncovering new immunological and inflammatory pathways that may impact the pathobiology of IL-6.

HUMAN MOLECULAR GENETICS (2021)

Add to Collection

Review Cardiac & Cardiovascular Systems

Treatment and prevention of lipoprotein(a)-mediated cardiovascular disease: the emerging potential of RNA interference therapeutics

Daniel Swerdlow, David A. Rider, Arash Yavari, Marie Wikstrom Lindholm, Giles Campion, Steven E. Nissen

Summary: While lipid- and lipoprotein-modifying therapies have shown effectiveness in reducing cardiovascular disease risk, no specific therapy targeting lipoprotein(a) (Lp(a)) has been proven to be successful. Lp(a) is a genetically determined risk factor for various cardiovascular diseases, and reducing its levels through a safe and effective therapy has become a priority. N-acetylgalactosamine-conjugated gene silencing therapeutics, such as small interfering RNA (siRNA), offer a promising approach for lowering Lp(a) with few doses per year. This review evaluates the role of Lp(a) in cardiovascular disease, the effectiveness of current lipid-modifying therapies, and the potential of siRNA therapeutics in treating and preventing Lp(a)-related diseases.

CARDIOVASCULAR RESEARCH (2022)

Add to Collection

Article Multidisciplinary Sciences

Intake of food rich in saturated fat in relation to subclinical atherosclerosis and potential modulating effects from single genetic variants

Federica Laguzzi, Buamina Maitusong, Rona J. Strawbridge, Damiano Baldassarre, Fabrizio Veglia, Steve E. Humphries, Rainer Rauramaa, Sudhir Kurl, Andries J. Smit, Philippe Giral, Angela Silveira, Elena Tremoli, Anders Hamsten, Ulf de Faire, Bruna Gigante, Karin Leander

Summary: The study aimed to investigate the relationship between intake of saturated fats and subclinical atherosclerosis, as well as the potential influence of genetic variants. Results showed an association between high intake of saturated fats and C-IMT thickness, but this association was no longer significant in multivariate analysis. There was no clear association between high intake of saturated fats and risk of atherosclerotic progression. Additionally, no significant genetic-dietary fat interactions were identified in relation to risk of subclinical atherosclerosis.

SCIENTIFIC REPORTS (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Association Between Uric Acid, Carotid Intima-Media Thickness, and Cardiovascular Events: Prospective Results From the IMPROVE Study

Massimo R. Mannarino, Matteo Pirro, Bruna Gigante, Kai Savonen, Sudhir Kurl, Philippe Giral, Andries Smit, Fabrizio Veglia, Elena Tremoli, Damiano Baldassarre

Summary: The study found a U-shaped association between SUA levels and VEs in men at moderate-to-high CVD risk, with both low and high SUA levels being associated with an increased risk of VEs. Elevated SUA levels were also independently associated with cIMT progression in men. However, no significant associations were found in women between SUA levels, CVD end points, and cIMT progression.

JOURNAL OF THE AMERICAN HEART ASSOCIATION (2021)

Add to Collection

Article Biotechnology & Applied Microbiology

Lack of Association of LPA Gene Polymorphisms with Coronary Artery Disease in Pakistani Subjects

Saleem Ullah Shahid, N. A. Shabana, Steve Humphries

Summary: Coronary artery disease is the leading cause of death worldwide, with Pakistan facing a high epidemic. While genetic markers have been associated with CAD, a study on LPA gene SNPs in Pakistani subjects showed that they do not significantly contribute to CAD progression.

DISEASE MARKERS (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Case-finding and genetic testing for familial hypercholesterolaemia in primary care

Nadeem Qureshi, Ralph Kwame Akyea, Brittany Dutton, Steve E. Humphries, Hasidah Abdul Hamid, Laura Condon, Stephen F. Weng, Joe Kai

Summary: By utilizing electronic case-finding and genetic testing in primary care, this intervention study was able to improve the identification of patients at risk of familial hypercholesterolaemia and target them for specialist assessment. The results showed that patients with FH-causing genetic variants had higher total cholesterol and low-density lipoprotein-cholesterol levels compared to those with other genetic test results.

HEART (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Comparing the performance of the novel FAMCAT algorithms and established case-finding criteria for familial hypercholesterolaemia in primary care

Nadeem Qureshi, Ralph K. Akyea, Brittany Dutton, Jo Leonardi-Bee, Steve E. Humphries, Stephen Weng, Joe Kai

Summary: A novel case-finding algorithm, FAMCAT 2, shows better performance in detecting genetically confirmed FH in the general population compared to other established criteria, without the need for prior clinical review.

OPEN HEART (2021)

Add to Collection

No Data Available

© Peeref 2019-2024. All rights reserved.